CO4A5_HUMAN
ID CO4A5_HUMAN Reviewed; 1685 AA.
AC P29400; Q16006; Q16126; Q6LD84; Q7Z700; Q9NUB7;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1994, sequence version 2.
DT 03-AUG-2022, entry version 236.
DE RecName: Full=Collagen alpha-5(IV) chain;
DE Flags: Precursor;
GN Name=COL4A5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8120014; DOI=10.1016/s0021-9258(17)37416-1;
RA Zhou J., Leinonen A., Tryggvason K.;
RT "Structure of the human type IV collagen COL4A5 gene.";
RL J. Biol. Chem. 269:6608-6614(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE OF 1-910, AND VARIANT ATS1 CYS-521.
RC TISSUE=Kidney;
RX PubMed=1352287; DOI=10.1016/s0021-9258(18)42301-0;
RA Zhou J., Hertz J.M., Leinonen A., Tryggvason K.;
RT "Complete amino acid sequence of the human alpha 5 (IV) collagen chain and
RT identification of a single-base mutation in exon 23 converting glycine 521
RT in the collagenous domain to cysteine in an Alport syndrome patient.";
RL J. Biol. Chem. 267:12475-12481(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 85-1685.
RC TISSUE=Placenta;
RX PubMed=2380186; DOI=10.1016/s0021-9258(18)77414-0;
RA Pihlajaniemi T., Pohjolainen E.R., Myers J.C.;
RT "Complete primary structure of the triple-helical region and the carboxyl-
RT terminal domain of a new type IV collagen chain, alpha 5(IV).";
RL J. Biol. Chem. 265:13758-13766(1990).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 924-1685.
RX PubMed=2004755; DOI=10.1016/0888-7543(91)90214-y;
RA Zhou J., Hostikka S.L., Chow L.T., Tryggvason K.;
RT "Characterization of the 3' half of the human type IV collagen alpha 5 gene
RT that is affected in the Alport syndrome.";
RL Genomics 9:1-9(1991).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 914-1685.
RX PubMed=1689491; DOI=10.1073/pnas.87.4.1606;
RA Hostikka S.L., Eddy R.L., Byers M.G., Hoeyhtyae M., Shows T.B.,
RA Tryggvason K.;
RT "Identification of a distinct type IV collagen alpha chain with restricted
RT kidney distribution and assignment of its gene to the locus of X
RT chromosome-linked Alport syndrome.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:1606-1610(1990).
RN [8]
RP NUCLEOTIDE SEQUENCE OF 1442-1471.
RX PubMed=2339699;
RA Myers J.C., Jones T.A., Pohjolainen E.R., Kadri A.S., Goddard A.D.,
RA Sheer D., Solomon E., Pihlajaniemi T.;
RT "Molecular cloning of alpha 5(IV) collagen and assignment of the gene to
RT the region of the X chromosome containing the Alport syndrome locus.";
RL Am. J. Hum. Genet. 46:1024-1033(1990).
RN [9]
RP NUCLEOTIDE SEQUENCE OF 1-20.
RA Guo C., van Damme B., Vanrenterghem Y., Devriendt K., Cassiman J.-J.,
RA Marynen P.;
RL Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE OF 1258-1270 (ISOFORM 2).
RX PubMed=8301933; DOI=10.1038/ki.1993.384;
RA Guo C., van Damme B., van Damme-Lombaerts R., van den Berghe H.,
RA Cassiman J.-J., Marynen P.;
RT "Differential splicing of COL4A5 mRNA in kidney and white blood cells: a
RT complex mutation in the COL4A5 gene of an Alport patient deletes the NC1
RT domain.";
RL Kidney Int. 44:1316-1321(1993).
RN [11]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1589-1598 AND 1677-1685, AND VARIANTS
RP ATS1 1597-TYR--THR-1685 DEL AND 1679-GLQ--THR-1685 DEL.
RX PubMed=7853788; DOI=10.1038/ki.1994.399;
RA Nakazato H., Hattori S., Ushijima T., Matsuura T., Koitabashi Y.,
RA Takada T., Yoshioka K., Endo F., Matsuda I.;
RT "Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in
RT primordial germ cells.";
RL Kidney Int. 46:1307-1314(1994).
RN [12]
RP REVIEW ON VARIANTS.
RX PubMed=9195222;
RX DOI=10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.0.co;2-#;
RA Lemmink H.H., Schroeder C.H., Monnens L.A.H., Smeets H.J.M.;
RT "The clinical spectrum of type IV collagen mutations.";
RL Hum. Mutat. 9:477-499(1997).
RN [13]
RP VARIANT ATS1 SER-1564.
RX PubMed=1672282; DOI=10.1016/0888-7543(91)90215-z;
RA Zhou J., Barker D.F., Hostikka S.L., Gregory M.C., Atkin C.L.,
RA Tryggvason K.;
RT "Single base mutation in alpha 5(IV) collagen chain gene converting a
RT conserved cysteine to serine in Alport syndrome.";
RL Genomics 9:10-18(1991).
RN [14]
RP VARIANT ATS1 ARG-325.
RX PubMed=1376965;
RA Knebelmann B., Deschenes G., Gros F., Hors M.-C., Gruenfeld J.-P.,
RA Tryggvason K., Gubler M.-C., Antignac C.;
RT "Substitution of arginine for glycine 325 in the collagen alpha 5 (IV)
RT chain associated with X-linked Alport syndrome: characterization of the
RT mutation by direct sequencing of PCR-amplified lymphoblast cDNA
RT fragments.";
RL Am. J. Hum. Genet. 51:135-142(1992).
RN [15]
RP VARIANT ATS1 GLU-325.
RX PubMed=1363780; DOI=10.1093/hmg/1.2.127;
RA Renieri A., Seri M., Myers J.C., Pihlajaniemi T., Massella L.,
RA Rizzoni G.F., de Marchi M.;
RT "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic
RT acid in Alport syndrome.";
RL Hum. Mol. Genet. 1:127-129(1992).
RN [16]
RP VARIANTS ATS1 THR-1517; SER-1538 AND GLN-1563.
RX PubMed=8406498; DOI=10.1006/geno.1993.1351;
RA Lemmink H.L., Schroeder C.H., Brunner H.G., Nelen M.R., Zhou J.,
RA Tryggvason K., Haggsma-Schouten W.A.G., Roodvoets A.P., Rascher W.,
RA van Oost B.A., Smeets H.J.M.;
RT "Identification of four novel mutations in the COL4A5 gene of patients with
RT Alport syndrome.";
RL Genomics 17:485-489(1993).
RN [17]
RP INVOLVEMENT IN DL-ATS.
RX PubMed=8356449; DOI=10.1126/science.8356449;
RA Zhou J., Mochizuki T., Smeets H., Antignac C., Laurila P., de Paepe A.,
RA Tryggvason K., Reeders S.T.;
RT "Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in
RT inherited smooth muscle tumors.";
RL Science 261:1167-1169(1993).
RN [18]
RP VARIANTS ATS1 GLU-400; VAL-406; VAL-638; ALA-638; ARG-653; ARG-796;
RP ARG-869; ARG-872 AND CYS-1241.
RX PubMed=7599631; DOI=10.1002/humu.1380050303;
RA Boye E., Flinter F., Zhou J., Tryggvason K., Bobrow M., Harris A.;
RT "Detection of 12 novel mutations in the collagenous domain of the COL4A5
RT gene in Alport syndrome patients.";
RL Hum. Mutat. 5:197-204(1995).
RN [19]
RP VARIANT ATS1 ARG-1649.
RX PubMed=8651292;
RA Barker D.F., Pruchno C.J., Jiang X., Atkin C.L., Stone E.M., Denison J.C.,
RA Fain P.R., Gregory M.C.;
RT "A mutation causing Alport syndrome with tardive hearing loss is common in
RT the western United States.";
RL Am. J. Hum. Genet. 58:1157-1165(1996).
RN [20]
RP VARIANTS ATS1.
RX PubMed=8651296;
RA Renieri A., Bruttini M., Galli L., Zanelli P., Neri T.M., Rossetti S.,
RA Turco A.E., Heiskari N., Zhou J., Gusmano R., Massella L., Banfi G.,
RA Scolari F., Sessa A., Rizzoni G.F., Tryggvason K., Pignatti P.F., Savi M.,
RA Ballabio A., de Marchi M.;
RT "X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons
RT of the COL4A5 gene.";
RL Am. J. Hum. Genet. 58:1192-1204(1996).
RN [21]
RP VARIANTS ATS1, AND VARIANTS ASP-430; SER-444; SER-619; ASN-664 AND
RP MET-1428.
RX PubMed=8940267;
RA Knebelmann B., Breillat C., Forestier L., Arrondel C., Jacassier D.,
RA Giatras I., Drouot L., Deschenes G., Gruenfeld J.-P., Broyer M.,
RA Gubler M.-C., Antignac C.;
RT "Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport
RT syndrome.";
RL Am. J. Hum. Genet. 59:1221-1232(1996).
RN [22]
RP VARIANT ATS1 ASP-1498.
RX PubMed=8829632;
RX DOI=10.1002/(sici)1098-1004(1996)7:2<149::aid-humu9>3.0.co;2-7;
RA Tverskaya S., Bobrynina V., Tsalykova F., Ignatova M., Krasnopolskaya X.,
RA Evgrafov O.;
RT "Substitution of A1498D in noncollagen domain of a5(IV) collagen chain
RT associated with adult-onset X-linked Alport syndrome.";
RL Hum. Mutat. 7:149-150(1996).
RN [23]
RP VARIANT ATS1 GLN-1677.
RX PubMed=9150741; DOI=10.1007/s004390050429;
RA Barker D.F., Denison J.C., Atkin C.L., Gregory M.C.;
RT "Common ancestry of three Ashkenazi-American families with Alport syndrome
RT and COL4A5 R1677Q.";
RL Hum. Genet. 99:681-684(1997).
RN [24]
RP VARIANTS ATS1 ARG-174; ARG-177; ARG-325; CYS-1410; TRP-1421; THR-1517 AND
RP ASP-1596.
RX PubMed=9452056; DOI=10.1002/humu.1380110135;
RA Neri T.M., Zanelli P., de Palma G., Savi M., Rossetti S., Turco A.E.,
RA Pignatti G.F., Galli L., Bruttini M., Renieri A., Mingarelli R.,
RA Trivelli A., Pinciaroli A.R., Ragaiolo M., Rizzoni G.F., de Marchi M.;
RT "Missense mutations in the COL4A5 gene in patients with X-linked Alport
RT syndrome.";
RL Hum. Mutat. Suppl. 1:S106-S109(1998).
RN [25]
RP VARIANTS ATS1 VAL-420; 456-PRO--PRO-458 DEL; ASP-573; ASP-624; ASP-635;
RP 802-GLY--PRO-807 DEL; ARG-869; CYS-941; SER-1030; SER-1066; ASP-1143;
RP ARG-1196; GLU-1261; SER-1357 AND ARG-1649.
RX PubMed=9848783; DOI=10.1681/asn.v9122291;
RA Martin P., Heiskari N., Zhou J., Leinonen A., Tumelius T., Hertz J.M.,
RA Barker D.F., Gregory M.C., Atkin C.L., Styrkarsdottir U., Neumann H.,
RA Springate J., Shows T.B., Pettersson E., Tryggvason K.;
RT "High mutation detection rate in the COL4A5 collagen gene in suspected
RT Alport syndrome using PCR and direct DNA sequencing.";
RL J. Am. Soc. Nephrol. 9:2291-2301(1998).
RN [26]
RP VARIANTS ATS1 GLU-579; LYS-633; ASP-947; VAL-953; ARG-1107; ARG-1158;
RP SER-1170 AND TRP-1678, AND VARIANTS SER-444 AND ALA-739.
RX PubMed=10561141; DOI=10.1016/s0272-6386(99)70042-9;
RA Inoue Y., Nishio H., Shirakawa T., Nakanishi K., Nakamura H., Sumino K.,
RA Nishiyama K., Iijima K., Yoshikawa N.;
RT "Detection of mutations in the COL4A5 gene in over 90% of male patients
RT with X-linked Alport's syndrome by RT-PCR and direct sequencing.";
RL Am. J. Kidney Dis. 34:854-862(1999).
RN [27]
RP VARIANT ATS1 ARG-822.
RX PubMed=10563487; DOI=10.1034/j.1399-0004.1999.560312.x;
RA Cruz-Robles D., Garcia-Torres R., Antignac C., Forestier L.,
RA Garcia de la Puente S., Correa-Rotter R., Garcia-Lopez E., Orozco L.;
RT "Three novel mutations in the COL4A5 gene in Mexican Alport syndrome
RT patients.";
RL Clin. Genet. 56:242-243(1999).
RN [28]
RP VARIANTS ATS1, AND VARIANTS.
RX PubMed=10094548;
RX DOI=10.1002/(sici)1098-1004(1999)13:2<124::aid-humu4>3.0.co;2-z;
RA Plant K.E., Green P.M., Vetrie D., Flinter F.A.;
RT "Detection of mutations in COL4A5 in patients with Alport syndrome.";
RL Hum. Mutat. 13:124-132(1999).
RN [29]
RP VARIANT ATS1 CYS-177.
RX PubMed=11004279; DOI=10.1016/s0002-9394(00)00466-9;
RA Blasi M.A., Rinaldi R., Renieri A., Petrucci R., De Bernardo C.,
RA Bruttini M., Grammatico P.;
RT "Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in
RT the COL4A5 gene.";
RL Am. J. Ophthalmol. 130:130-131(2000).
RN [30]
RP VARIANTS ATS1 ARG-216; ARG-415; GLU-1045; ASP-1086; SER-1167 AND
RP 864-SER--GLY-875 DEL.
RX PubMed=10862091;
RX DOI=10.1002/1098-1004(200006)15:6<579::aid-humu14>3.0.co;2-h;
RA Martin P., Heiskari N., Pajari H., Groenhagen-Riska C., Kaeaeriaeinen H.,
RA Koskimies O., Tryggvason K.;
RT "Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.";
RL Hum. Mutat. 15:579-579(2000).
RN [31]
RP VARIANTS ATS1 ARG-319; SER-739; VAL-902; GLU-911; ASP-1229 AND HIS-1511.
RX PubMed=10684360; DOI=10.1007/s004670050025;
RA Cheong H.I., Park H.W., Ha I.S., Choi Y.;
RT "Mutational analysis of COL4A5 gene in Korean Alport syndrome.";
RL Pediatr. Nephrol. 14:117-121(2000).
RN [32]
RP VARIANTS ATS1 ARG-192; ARG-292; ASP-295; ARG-325; ARG-558; VAL-603;
RP ASP-624; ASP-629; GLU-722; VAL-898; ALA-1006; VAL-1006; ASP-1244; ARG-1649
RP AND PRO-1677, AND VARIANT SER-444.
RX PubMed=11223851;
RX DOI=10.1002/1096-8628(20010115)98:2<148::aid-ajmg1024>3.0.co;2-w;
RA Barker D.F., Denison J.C., Atkin C.L., Gregory M.C.;
RT "Efficient detection of Alport syndrome COL4A5 mutations with multiplex
RT genomic PCR-SSCP.";
RL Am. J. Med. Genet. 98:148-160(2001).
RN [33]
RP INVOLVEMENT IN DL-ATS.
RX PubMed=12784310; DOI=10.1002/ajmg.a.20019;
RA Anker M.C., Arnemann J., Neumann K., Ahrens P., Schmidt H., Koenig R.;
RT "Alport syndrome with diffuse leiomyomatosis.";
RL Am. J. Med. Genet. A 119:381-385(2003).
RN [34]
RP VARIANT ATS1 GLU-123.
RX PubMed=24522658; DOI=10.1007/s11033-014-3227-1;
RA Guo Y., Yuan J., Liang H., Xiao J., Xu H., Yuan L., Gao K., Wu B., Tang Y.,
RA Li X., Deng H.;
RT "Identification of a novel COL4A5 mutation in a Chinese family with X-
RT linked Alport syndrome using exome sequencing.";
RL Mol. Biol. Rep. 41:3631-3635(2014).
CC -!- FUNCTION: Type IV collagen is the major structural component of
CC glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork
CC together with laminins, proteoglycans and entactin/nidogen.
CC -!- SUBUNIT: There are six type IV collagen isoforms, alpha 1(IV)-alpha
CC 6(IV), each of which can form a triple helix structure with 2 other
CC chains to generate type IV collagen network.
CC -!- INTERACTION:
CC P29400-2; Q8TB40: ABHD4; NbExp=3; IntAct=EBI-12211159, EBI-7131019;
CC P29400-2; P05067: APP; NbExp=3; IntAct=EBI-12211159, EBI-77613;
CC P29400-2; Q99437: ATP6V0B; NbExp=3; IntAct=EBI-12211159, EBI-3904417;
CC P29400-2; Q8WZ55: BSND; NbExp=3; IntAct=EBI-12211159, EBI-7996695;
CC P29400-2; P19397: CD53; NbExp=3; IntAct=EBI-12211159, EBI-6657396;
CC P29400-2; P11912: CD79A; NbExp=3; IntAct=EBI-12211159, EBI-7797864;
CC P29400-2; Q9HA82: CERS4; NbExp=3; IntAct=EBI-12211159, EBI-2622997;
CC P29400-2; O95471: CLDN7; NbExp=3; IntAct=EBI-12211159, EBI-740744;
CC P29400-2; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-12211159, EBI-18535450;
CC P29400-2; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12211159, EBI-781551;
CC P29400-2; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-12211159, EBI-18304435;
CC P29400-2; O15552: FFAR2; NbExp=3; IntAct=EBI-12211159, EBI-2833872;
CC P29400-2; Q8TED1: GPX8; NbExp=3; IntAct=EBI-12211159, EBI-11721746;
CC P29400-2; P48051: KCNJ6; NbExp=3; IntAct=EBI-12211159, EBI-12017638;
CC P29400-2; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-12211159, EBI-11956541;
CC P29400-2; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-12211159, EBI-3923617;
CC P29400-2; Q68D85: NCR3LG1; NbExp=3; IntAct=EBI-12211159, EBI-14061804;
CC P29400-2; O14524-2: NEMP1; NbExp=3; IntAct=EBI-12211159, EBI-10969203;
CC P29400-2; Q8NC24: RELL2; NbExp=3; IntAct=EBI-12211159, EBI-10269209;
CC P29400-2; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-12211159, EBI-3920694;
CC P29400-2; Q96EP9: SLC10A4; NbExp=3; IntAct=EBI-12211159, EBI-17456472;
CC P29400-2; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-12211159, EBI-18159983;
CC P29400-2; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-12211159, EBI-17595455;
CC P29400-2; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-12211159, EBI-17295964;
CC P29400-2; Q9NP94: SLC39A2; NbExp=3; IntAct=EBI-12211159, EBI-12898013;
CC P29400-2; Q8WY91: THAP4; NbExp=3; IntAct=EBI-12211159, EBI-726691;
CC P29400-2; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-12211159, EBI-11742770;
CC P29400-2; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-12211159, EBI-12195249;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix, basement membrane.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P29400-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P29400-2; Sequence=VSP_001173;
CC -!- TISSUE SPECIFICITY: Isoform 2 is found in kidney.
CC -!- DOMAIN: Alpha chains of type IV collagen have a non-collagenous domain
CC (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats
CC in the long central triple-helical domain (which may cause flexibility
CC in the triple helix), and a short N-terminal triple-helical 7S domain.
CC -!- PTM: Prolines at the third position of the tripeptide repeating unit
CC (G-X-Y) are hydroxylated in some or all of the chains.
CC -!- PTM: Type IV collagens contain numerous cysteine residues which are
CC involved in inter- and intramolecular disulfide bonding. 12 of these,
CC located in the NC1 domain, are conserved in all known type IV
CC collagens.
CC -!- PTM: The trimeric structure of the NC1 domains is stabilized by
CC covalent bonds between Lys and Met residues. {ECO:0000250}.
CC -!- DISEASE: Alport syndrome 1, X-linked (ATS1) [MIM:301050]: A syndrome
CC that is characterized by progressive glomerulonephritis, renal failure,
CC sensorineural deafness, specific eye abnormalities (lenticonous and
CC macular flecks), and glomerular basement membrane defects. The disorder
CC shows considerable heterogeneity in that families differ in the age of
CC end-stage renal disease and the occurrence of deafness.
CC {ECO:0000269|PubMed:10094548, ECO:0000269|PubMed:10561141,
CC ECO:0000269|PubMed:10563487, ECO:0000269|PubMed:10684360,
CC ECO:0000269|PubMed:10862091, ECO:0000269|PubMed:11004279,
CC ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:1352287,
CC ECO:0000269|PubMed:1363780, ECO:0000269|PubMed:1376965,
CC ECO:0000269|PubMed:1672282, ECO:0000269|PubMed:24522658,
CC ECO:0000269|PubMed:7599631, ECO:0000269|PubMed:7853788,
CC ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:8651292,
CC ECO:0000269|PubMed:8651296, ECO:0000269|PubMed:8829632,
CC ECO:0000269|PubMed:8940267, ECO:0000269|PubMed:9150741,
CC ECO:0000269|PubMed:9452056, ECO:0000269|PubMed:9848783}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Note=Deletions covering the N-terminal regions of COL4A5 and
CC COL4A6, which are localized in a head-to-head manner, are found in the
CC chromosome Xq22.3 centromeric deletion syndrome. This results in a
CC phenotype with features of diffuse leiomyomatosis and Alport syndrome
CC (DL-ATS).
CC -!- MISCELLANEOUS: [Isoform 2]: Contains 2 extra G-X-X repeats into the
CC triple-helix domain. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the type IV collagen family.
CC {ECO:0000255|PROSITE-ProRule:PRU00736}.
CC -!- WEB RESOURCE: Name= Alport syndrome and COL4A5;
CC URL="http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; M58526; AAA99480.1; -; mRNA.
DR EMBL; AL034369; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL035425; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031622; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136364; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471120; EAX02683.1; -; Genomic_DNA.
DR EMBL; M90464; AAA52046.1; -; mRNA.
DR EMBL; U04520; AAC27816.1; -; Genomic_DNA.
DR EMBL; U04470; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04471; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04472; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04473; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04474; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04476; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04477; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04478; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04479; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04480; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04483; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04485; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04486; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04487; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04488; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04489; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04490; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04491; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04492; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04493; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04494; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04495; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04496; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04497; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04498; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04499; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04500; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04501; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04502; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04503; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04504; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04505; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04506; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04507; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04508; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04509; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04510; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04511; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04512; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04514; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04515; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04516; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04517; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04518; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04519; AAC27816.1; JOINED; Genomic_DNA.
DR EMBL; U04520; AAF66217.2; -; Genomic_DNA.
DR EMBL; U04470; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04471; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04472; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04473; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04474; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04476; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04477; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04478; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04479; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04480; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04483; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04485; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04486; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04487; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04488; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04489; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04490; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04491; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04492; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04493; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04494; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04495; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04496; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04497; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04498; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04499; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04500; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04501; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04502; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04503; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04504; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04505; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04506; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04507; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04508; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04509; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04510; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; AF199451; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; AF199452; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04511; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04512; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04514; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04515; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04516; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04517; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04518; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; U04519; AAF66217.2; JOINED; Genomic_DNA.
DR EMBL; M63473; AAA51558.1; -; Genomic_DNA.
DR EMBL; M63455; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63456; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63457; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63458; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63459; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63460; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63461; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63462; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63463; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63464; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63465; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63466; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63467; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63468; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63470; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63471; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M63472; AAA51558.1; JOINED; Genomic_DNA.
DR EMBL; M31115; AAA52045.1; -; mRNA.
DR EMBL; Z37153; CAA85512.1; -; Genomic_DNA.
DR EMBL; S69168; AAC60612.1; -; mRNA.
DR EMBL; S59334; AAD13909.1; -; mRNA.
DR EMBL; S75903; AAB33374.1; -; Genomic_DNA.
DR CCDS; CCDS14543.1; -. [P29400-1]
DR CCDS; CCDS35366.1; -. [P29400-2]
DR PIR; S22917; S22917.
DR RefSeq; NP_000486.1; NM_000495.4. [P29400-1]
DR RefSeq; NP_203699.1; NM_033380.2. [P29400-2]
DR PDB; 5NAZ; X-ray; 1.85 A; A=1457-1685.
DR PDB; 6WKU; X-ray; 1.76 A; A=1461-1685.
DR PDBsum; 5NAZ; -.
DR PDBsum; 6WKU; -.
DR AlphaFoldDB; P29400; -.
DR SMR; P29400; -.
DR BioGRID; 107684; 53.
DR ComplexPortal; CPX-1724; Collagen type IV trimer variant 2.
DR ComplexPortal; CPX-1725; Collagen type IV trimer variant 3.
DR IntAct; P29400; 51.
DR MINT; P29400; -.
DR STRING; 9606.ENSP00000331902; -.
DR ChEMBL; CHEMBL2364188; -.
DR GlyGen; P29400; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; P29400; -.
DR PhosphoSitePlus; P29400; -.
DR BioMuta; COL4A5; -.
DR DMDM; 461675; -.
DR EPD; P29400; -.
DR jPOST; P29400; -.
DR MassIVE; P29400; -.
DR MaxQB; P29400; -.
DR PaxDb; P29400; -.
DR PeptideAtlas; P29400; -.
DR PRIDE; P29400; -.
DR ProteomicsDB; 54566; -. [P29400-1]
DR ProteomicsDB; 54567; -. [P29400-2]
DR Antibodypedia; 56249; 174 antibodies from 22 providers.
DR DNASU; 1287; -.
DR Ensembl; ENST00000328300.11; ENSP00000331902.7; ENSG00000188153.14. [P29400-2]
DR Ensembl; ENST00000361603.7; ENSP00000354505.2; ENSG00000188153.14. [P29400-1]
DR GeneID; 1287; -.
DR KEGG; hsa:1287; -.
DR MANE-Select; ENST00000328300.11; ENSP00000331902.7; NM_033380.3; NP_203699.1. [P29400-2]
DR UCSC; uc004enz.3; human. [P29400-1]
DR CTD; 1287; -.
DR DisGeNET; 1287; -.
DR GeneCards; COL4A5; -.
DR GeneReviews; COL4A5; -.
DR HGNC; HGNC:2207; COL4A5.
DR HPA; ENSG00000188153; Tissue enhanced (brain).
DR MalaCards; COL4A5; -.
DR MIM; 301050; phenotype.
DR MIM; 303630; gene.
DR neXtProt; NX_P29400; -.
DR OpenTargets; ENSG00000188153; -.
DR Orphanet; 97562; NON RARE IN EUROPE: Benign familial hematuria.
DR Orphanet; 88917; X-linked Alport syndrome.
DR Orphanet; 1018; X-linked Alport syndrome-diffuse leiomyomatosis.
DR PharmGKB; PA26722; -.
DR VEuPathDB; HostDB:ENSG00000188153; -.
DR eggNOG; KOG3544; Eukaryota.
DR GeneTree; ENSGT00940000162034; -.
DR HOGENOM; CLU_002023_0_0_1; -.
DR InParanoid; P29400; -.
DR OMA; NICNYAS; -.
DR OrthoDB; 63831at2759; -.
DR TreeFam; TF344135; -.
DR PathwayCommons; P29400; -.
DR Reactome; R-HSA-1442490; Collagen degradation.
DR Reactome; R-HSA-1474244; Extracellular matrix organization.
DR Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes.
DR Reactome; R-HSA-186797; Signaling by PDGF.
DR Reactome; R-HSA-2022090; Assembly of collagen fibrils and other multimeric structures.
DR Reactome; R-HSA-216083; Integrin cell surface interactions.
DR Reactome; R-HSA-2214320; Anchoring fibril formation.
DR Reactome; R-HSA-2243919; Crosslinking of collagen fibrils.
DR Reactome; R-HSA-3000157; Laminin interactions.
DR Reactome; R-HSA-3000171; Non-integrin membrane-ECM interactions.
DR Reactome; R-HSA-3000178; ECM proteoglycans.
DR Reactome; R-HSA-419037; NCAM1 interactions.
DR Reactome; R-HSA-8948216; Collagen chain trimerization.
DR Reactome; R-HSA-9010553; Regulation of expression of SLITs and ROBOs.
DR SignaLink; P29400; -.
DR SIGNOR; P29400; -.
DR BioGRID-ORCS; 1287; 13 hits in 699 CRISPR screens.
DR ChiTaRS; COL4A5; human.
DR GeneWiki; COL4A5; -.
DR GenomeRNAi; 1287; -.
DR Pharos; P29400; Tbio.
DR PRO; PR:P29400; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P29400; protein.
DR Bgee; ENSG00000188153; Expressed in mucosa of stomach and 182 other tissues.
DR ExpressionAtlas; P29400; baseline and differential.
DR Genevisible; P29400; HS.
DR GO; GO:0005604; C:basement membrane; IBA:GO_Central.
DR GO; GO:0005587; C:collagen type IV trimer; TAS:ProtInc.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0031594; C:neuromuscular junction; IEA:Ensembl.
DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR GO; GO:0030020; F:extracellular matrix structural constituent conferring tensile strength; HDA:BHF-UCL.
DR GO; GO:0038063; P:collagen-activated tyrosine kinase receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central.
DR GO; GO:0007528; P:neuromuscular junction development; IEA:Ensembl.
DR Gene3D; 2.170.240.10; -; 1.
DR InterPro; IPR008160; Collagen.
DR InterPro; IPR001442; Collagen_IV_NC.
DR InterPro; IPR036954; Collagen_IV_NC_sf.
DR InterPro; IPR016187; CTDL_fold.
DR Pfam; PF01413; C4; 2.
DR Pfam; PF01391; Collagen; 20.
DR SMART; SM00111; C4; 2.
DR SUPFAM; SSF56436; SSF56436; 2.
DR PROSITE; PS51403; NC1_IV; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alport syndrome; Alternative splicing; Basement membrane;
KW Chromosomal rearrangement; Collagen; Deafness; Disease variant;
KW Disulfide bond; Extracellular matrix; Glycoprotein; Hydroxylation;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..1685
FT /note="Collagen alpha-5(IV) chain"
FT /id="PRO_0000005852"
FT DOMAIN 1461..1685
FT /note="Collagen IV NC1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT REGION 27..41
FT /note="Nonhelical region (NC2)"
FT REGION 42..1456
FT /note="Triple-helical region"
FT REGION 49..1459
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 87..105
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 139..153
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 171..213
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 265..279
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 286..303
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 380..402
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 415..462
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 607..629
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 705..766
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 806..833
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 849..880
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 997..1018
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1039..1053
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1122..1146
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1232..1273
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1394..1408
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 125
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 451
FT /note="Interchain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 481
FT /note="Interchain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 484
FT /note="Interchain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 1476..1567
FT /note="Or C-1476 with C-1564"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 1509..1564
FT /note="Or C-1509 with C-1567"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 1521..1527
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 1586..1681
FT /note="Or C-1586 with C-1678"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 1620..1678
FT /note="Or C-1620 with C-1681"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT DISULFID 1632..1638
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00736"
FT CROSSLNK 1549
FT /note="S-Lysyl-methionine sulfilimine (Met-Lys) (interchain
FT with K-1667)"
FT /evidence="ECO:0000250"
FT CROSSLNK 1667
FT /note="S-Lysyl-methionine sulfilimine (Lys-Met) (interchain
FT with M-1549)"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1264
FT /note="G -> GPTGFQG (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_001173"
FT VARIANT 54
FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886043)"
FT /id="VAR_001914"
FT VARIANT 114
FT /note="G -> S (in ATS1)"
FT /id="VAR_007991"
FT VARIANT 123
FT /note="G -> E (in ATS1; dbSNP:rs1569488429)"
FT /evidence="ECO:0000269|PubMed:24522658"
FT /id="VAR_071932"
FT VARIANT 129
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs281874723)"
FT /id="VAR_001915"
FT VARIANT 129
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs281874723)"
FT /id="VAR_001916"
FT VARIANT 174
FT /note="G -> R (in ATS1; dbSNP:rs104886055)"
FT /evidence="ECO:0000269|PubMed:9452056"
FT /id="VAR_001917"
FT VARIANT 177
FT /note="G -> C (in ATS1; presenting with dot-and-fleck
FT retinopathy; dbSNP:rs104886056)"
FT /evidence="ECO:0000269|PubMed:11004279"
FT /id="VAR_011220"
FT VARIANT 177
FT /note="G -> R (in ATS1; adult type; dbSNP:rs104886056)"
FT /evidence="ECO:0000269|PubMed:9452056"
FT /id="VAR_001918"
FT VARIANT 192
FT /note="G -> R (in ATS1; dbSNP:rs104886060)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011221"
FT VARIANT 204
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886063)"
FT /id="VAR_011222"
FT VARIANT 216
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886067)"
FT /evidence="ECO:0000269|PubMed:10862091"
FT /id="VAR_001919"
FT VARIANT 219
FT /note="G -> S (in ATS1; dbSNP:rs104886075)"
FT /id="VAR_001920"
FT VARIANT 230
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886076)"
FT /id="VAR_011223"
FT VARIANT 239
FT /note="G -> E (in ATS1; dbSNP:rs104886068)"
FT /id="VAR_011224"
FT VARIANT 264
FT /note="G -> R (in ATS1; adult type; dbSNP:rs104886069)"
FT /id="VAR_011225"
FT VARIANT 289
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886450)"
FT /id="VAR_001921"
FT VARIANT 292
FT /note="G -> R (in ATS1; dbSNP:rs104886073)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011226"
FT VARIANT 292
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886078)"
FT /id="VAR_001922"
FT VARIANT 295
FT /note="G -> D (in ATS1; dbSNP:rs104886079)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011227"
FT VARIANT 298
FT /note="G -> S (in ATS1; dbSNP:rs104886080)"
FT /id="VAR_011228"
FT VARIANT 319
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886085)"
FT /evidence="ECO:0000269|PubMed:10684360"
FT /id="VAR_011229"
FT VARIANT 325
FT /note="G -> E (in ATS1; dbSNP:rs104886091)"
FT /evidence="ECO:0000269|PubMed:1363780"
FT /id="VAR_001923"
FT VARIANT 325
FT /note="G -> R (in ATS1; juvenile and adult types;
FT dbSNP:rs104886088)"
FT /evidence="ECO:0000269|PubMed:11223851,
FT ECO:0000269|PubMed:1376965, ECO:0000269|PubMed:9452056"
FT /id="VAR_001924"
FT VARIANT 331
FT /note="G -> V (in ATS1; dbSNP:rs104886092)"
FT /id="VAR_007992"
FT VARIANT 365..367
FT /note="Missing (in ATS1; juvenile type)"
FT /id="VAR_001926"
FT VARIANT 365
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886096)"
FT /id="VAR_001925"
FT VARIANT 371
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886097)"
FT /id="VAR_001927"
FT VARIANT 374
FT /note="G -> A (in ATS1; dbSNP:rs104886108)"
FT /id="VAR_001928"
FT VARIANT 383
FT /note="G -> D (in ATS1; juvenile type; dbSNP:rs104886105)"
FT /id="VAR_001929"
FT VARIANT 400
FT /note="G -> E (in ATS1; adult type; dbSNP:rs104886107)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001930"
FT VARIANT 406
FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886100)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001931"
FT VARIANT 409
FT /note="G -> D (in ATS1; dbSNP:rs104886101)"
FT /id="VAR_001932"
FT VARIANT 412
FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886102)"
FT /id="VAR_011230"
FT VARIANT 415
FT /note="G -> R (in ATS1; dbSNP:rs104886103)"
FT /evidence="ECO:0000269|PubMed:10862091"
FT /id="VAR_011231"
FT VARIANT 420
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs281874663)"
FT /id="VAR_011232"
FT VARIANT 420
FT /note="G -> V (in ATS1; dbSNP:rs281874663)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011233"
FT VARIANT 423
FT /note="G -> E (in ATS1; dbSNP:rs104886110)"
FT /id="VAR_011234"
FT VARIANT 430
FT /note="A -> D (in dbSNP:rs142883891)"
FT /evidence="ECO:0000269|PubMed:8940267"
FT /id="VAR_001933"
FT VARIANT 444
FT /note="I -> S (in dbSNP:rs2272946)"
FT /evidence="ECO:0000269|PubMed:10561141,
FT ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:8940267"
FT /id="VAR_001934"
FT VARIANT 456..458
FT /note="Missing (in ATS1)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_001935"
FT VARIANT 466
FT /note="G -> E (in ATS1; dbSNP:rs104886114)"
FT /id="VAR_001936"
FT VARIANT 472
FT /note="G -> R (in ATS1; dbSNP:rs104886116)"
FT /id="VAR_007993"
FT VARIANT 491
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886117)"
FT /id="VAR_011235"
FT VARIANT 494
FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886118)"
FT /id="VAR_001937"
FT VARIANT 496..507
FT /note="Missing (in ATS1; juvenile type)"
FT /id="VAR_001938"
FT VARIANT 497
FT /note="G -> C (in ATS1; adult type; dbSNP:rs104886120)"
FT /id="VAR_011236"
FT VARIANT 521
FT /note="G -> C (in ATS1; dbSNP:rs104886121)"
FT /evidence="ECO:0000269|PubMed:1352287"
FT /id="VAR_001939"
FT VARIANT 521
FT /note="G -> S (in ATS1; dbSNP:rs104886121)"
FT /id="VAR_001940"
FT VARIANT 524
FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886119)"
FT /id="VAR_011237"
FT VARIANT 545
FT /note="G -> R (in ATS1; dbSNP:rs104886126)"
FT /id="VAR_007994"
FT VARIANT 545
FT /note="G -> V (in ATS1; dbSNP:rs104886127)"
FT /id="VAR_007995"
FT VARIANT 558
FT /note="G -> R (in ATS1; dbSNP:rs104886129)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011238"
FT VARIANT 561
FT /note="G -> R (in ATS1; dbSNP:rs104886136)"
FT /id="VAR_007996"
FT VARIANT 567
FT /note="G -> A (in ATS1; juvenile type; dbSNP:rs104886137)"
FT /id="VAR_001941"
FT VARIANT 573
FT /note="G -> D (in ATS1; dbSNP:rs104886138)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011239"
FT VARIANT 579
FT /note="G -> E (in ATS1; dbSNP:rs104886130)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011240"
FT VARIANT 579
FT /note="G -> R (in ATS1; adult type; dbSNP:rs104886139)"
FT /id="VAR_007997"
FT VARIANT 603
FT /note="G -> V (in ATS1; dbSNP:rs104886133)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011241"
FT VARIANT 609
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886135)"
FT /id="VAR_011242"
FT VARIANT 609
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886140)"
FT /id="VAR_001942"
FT VARIANT 619
FT /note="P -> S (in dbSNP:rs1569494314)"
FT /evidence="ECO:0000269|PubMed:8940267"
FT /id="VAR_011243"
FT VARIANT 621
FT /note="G -> C (in ATS1; dbSNP:rs104886141)"
FT /id="VAR_011244"
FT VARIANT 624
FT /note="G -> D (in ATS1; dbSNP:rs104886142)"
FT /evidence="ECO:0000269|PubMed:11223851,
FT ECO:0000269|PubMed:9848783"
FT /id="VAR_011245"
FT VARIANT 629
FT /note="G -> D (in ATS1; dbSNP:rs104886144)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011246"
FT VARIANT 632
FT /note="G -> D (in ATS1; dbSNP:rs104886145)"
FT /id="VAR_011247"
FT VARIANT 633
FT /note="E -> K (in ATS1; dbSNP:rs104886146)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011248"
FT VARIANT 635
FT /note="G -> D (in ATS1; dbSNP:rs281874683)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_007998"
FT VARIANT 638
FT /note="G -> A (in ATS1; dbSNP:rs104886134)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001944"
FT VARIANT 638
FT /note="G -> S (in ATS1; juvenile type; dbSNP:rs104886147)"
FT /id="VAR_007999"
FT VARIANT 638
FT /note="G -> V (in ATS1; dbSNP:rs104886134)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001943"
FT VARIANT 653
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886150)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001945"
FT VARIANT 664
FT /note="K -> N (in dbSNP:rs34077552)"
FT /evidence="ECO:0000269|PubMed:8940267"
FT /id="VAR_001946"
FT VARIANT 669
FT /note="G -> A (in ATS1; juvenile type; dbSNP:rs104886151)"
FT /id="VAR_008000"
FT VARIANT 681
FT /note="G -> D (in ATS1; dbSNP:rs104886158)"
FT /id="VAR_011249"
FT VARIANT 684
FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886160)"
FT /id="VAR_001947"
FT VARIANT 687
FT /note="G -> E (in ATS1; dbSNP:rs104886168)"
FT /id="VAR_008001"
FT VARIANT 722
FT /note="G -> E (in ATS1; dbSNP:rs104886163)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011250"
FT VARIANT 739
FT /note="P -> A (in dbSNP:rs104886164)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011251"
FT VARIANT 739
FT /note="P -> S (in ATS1; juvenile type; dbSNP:rs104886164)"
FT /evidence="ECO:0000269|PubMed:10684360"
FT /id="VAR_011252"
FT VARIANT 740
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886165)"
FT /id="VAR_001948"
FT VARIANT 743
FT /note="G -> D (in ATS1; dbSNP:rs104886166)"
FT /id="VAR_008002"
FT VARIANT 772
FT /note="G -> D (in ATS1; juvenile type; dbSNP:rs104886173)"
FT /id="VAR_001949"
FT VARIANT 796
FT /note="G -> R (in ATS1; dbSNP:rs104886177)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001950"
FT VARIANT 802..807
FT /note="Missing (in ATS1)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011254"
FT VARIANT 802
FT /note="G -> R (in ATS1; dbSNP:rs104886179)"
FT /id="VAR_011253"
FT VARIANT 808
FT /note="G -> E (in ATS1; adult type; dbSNP:rs104886180)"
FT /id="VAR_008003"
FT VARIANT 811
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886183)"
FT /id="VAR_011255"
FT VARIANT 822..824
FT /note="Missing (in ATS1)"
FT /id="VAR_008004"
FT VARIANT 822
FT /note="G -> R (in ATS1; dbSNP:rs104886184)"
FT /evidence="ECO:0000269|PubMed:10563487"
FT /id="VAR_011256"
FT VARIANT 852
FT /note="G -> E (in ATS1; juvenile type; dbSNP:rs104886187)"
FT /id="VAR_008005"
FT VARIANT 852
FT /note="G -> R (in ATS1; dbSNP:rs104886186)"
FT /id="VAR_001951"
FT VARIANT 864..875
FT /note="Missing (in ATS1)"
FT /evidence="ECO:0000269|PubMed:10862091"
FT /id="VAR_011257"
FT VARIANT 866
FT /note="G -> E (in ATS1; adult type; dbSNP:rs104886188)"
FT /id="VAR_001952"
FT VARIANT 869
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886189)"
FT /evidence="ECO:0000269|PubMed:7599631,
FT ECO:0000269|PubMed:9848783"
FT /id="VAR_001953"
FT VARIANT 872
FT /note="G -> R (in ATS1; dbSNP:rs104886190)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001954"
FT VARIANT 878
FT /note="G -> R (in ATS1)"
FT /id="VAR_008006"
FT VARIANT 898
FT /note="M -> V (in ATS1; mild phenotype; dbSNP:rs104886192)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011258"
FT VARIANT 902
FT /note="G -> V (in ATS1; juvenile type; dbSNP:rs104886361)"
FT /evidence="ECO:0000269|PubMed:10684360"
FT /id="VAR_011259"
FT VARIANT 911
FT /note="G -> E (in ATS1; dbSNP:rs104886363)"
FT /evidence="ECO:0000269|PubMed:10684360"
FT /id="VAR_011260"
FT VARIANT 941
FT /note="G -> C (in ATS1; dbSNP:rs104886196)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011261"
FT VARIANT 942
FT /note="Missing (in ATS1)"
FT /id="VAR_001955"
FT VARIANT 947
FT /note="G -> D (in ATS1; dbSNP:rs104886370)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011262"
FT VARIANT 953
FT /note="G -> V (in ATS1; found on the same allele as variant
FT Glu-1211; dbSNP:rs78972735)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011263"
FT VARIANT 988..992
FT /note="Missing (in ATS1; adult type)"
FT /id="VAR_008007"
FT VARIANT 1006
FT /note="G -> A (in ATS1)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011264"
FT VARIANT 1006
FT /note="G -> V (in ATS1; dbSNP:rs104886202)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011265"
FT VARIANT 1015
FT /note="G -> E (in ATS1)"
FT /id="VAR_011266"
FT VARIANT 1015
FT /note="G -> V (in ATS1; dbSNP:rs104886211)"
FT /id="VAR_011267"
FT VARIANT 1030
FT /note="G -> S (in ATS1; dbSNP:rs104886210)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011268"
FT VARIANT 1036
FT /note="G -> V (in ATS1; dbSNP:rs104886212)"
FT /id="VAR_011269"
FT VARIANT 1039
FT /note="G -> S (in ATS1; juvenile type; dbSNP:rs104886214)"
FT /id="VAR_011270"
FT VARIANT 1045
FT /note="G -> E (in ATS1; dbSNP:rs104886215)"
FT /evidence="ECO:0000269|PubMed:10862091"
FT /id="VAR_011271"
FT VARIANT 1066
FT /note="G -> R (in ATS1; dbSNP:rs104886219)"
FT /id="VAR_011272"
FT VARIANT 1066
FT /note="G -> S (in ATS1; dbSNP:rs104886219)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011273"
FT VARIANT 1086
FT /note="G -> D (in ATS1; dbSNP:rs104886232)"
FT /evidence="ECO:0000269|PubMed:10862091"
FT /id="VAR_011274"
FT VARIANT 1104
FT /note="G -> V (in ATS1; dbSNP:rs104886224)"
FT /id="VAR_001956"
FT VARIANT 1107
FT /note="G -> R (in ATS1; dbSNP:rs104886225)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_008008"
FT VARIANT 1143
FT /note="G -> D (in ATS1; juvenile type; dbSNP:rs104886229)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_001957"
FT VARIANT 1143
FT /note="G -> S (in ATS1; adult type; dbSNP:rs104886228)"
FT /id="VAR_001958"
FT VARIANT 1158
FT /note="G -> R (in ATS1; dbSNP:rs104886389)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011275"
FT VARIANT 1161
FT /note="G -> R (in ATS1; dbSNP:rs104886235)"
FT /id="VAR_008009"
FT VARIANT 1167
FT /note="G -> S (in ATS1; dbSNP:rs104886236)"
FT /evidence="ECO:0000269|PubMed:10862091"
FT /id="VAR_011276"
FT VARIANT 1170
FT /note="G -> S (in ATS1; dbSNP:rs104886237)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011277"
FT VARIANT 1182
FT /note="G -> R (in ATS1; juvenile type; dbSNP:rs104886242)"
FT /id="VAR_001959"
FT VARIANT 1196
FT /note="G -> R (in ATS1; dbSNP:rs104886244)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011278"
FT VARIANT 1205
FT /note="G -> C (in ATS1; juvenile type; dbSNP:rs104886245)"
FT /id="VAR_011279"
FT VARIANT 1211
FT /note="G -> E (in ATS1; found on the same allele as variant
FT Val-953; dbSNP:rs104886247)"
FT /id="VAR_011280"
FT VARIANT 1211
FT /note="G -> R (in ATS1; dbSNP:rs104886246)"
FT /id="VAR_008010"
FT VARIANT 1220
FT /note="G -> D (in ATS1; dbSNP:rs104886251)"
FT /id="VAR_008011"
FT VARIANT 1229
FT /note="G -> D (in ATS1; adult type; dbSNP:rs104886253)"
FT /evidence="ECO:0000269|PubMed:10684360"
FT /id="VAR_011281"
FT VARIANT 1241
FT /note="G -> C (in ATS1; dbSNP:rs104886255)"
FT /evidence="ECO:0000269|PubMed:7599631"
FT /id="VAR_001960"
FT VARIANT 1244
FT /note="G -> D (in ATS1; dbSNP:rs104886261)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011282"
FT VARIANT 1252
FT /note="G -> S (in ATS1; adult type; dbSNP:rs104886262)"
FT /id="VAR_011283"
FT VARIANT 1261
FT /note="G -> E (in ATS1; dbSNP:rs104886264)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011284"
FT VARIANT 1270
FT /note="G -> S (in ATS1; dbSNP:rs104886257)"
FT /id="VAR_001961"
FT VARIANT 1333
FT /note="G -> S (in ATS1; dbSNP:rs104886266)"
FT /id="VAR_008012"
FT VARIANT 1357
FT /note="G -> S (in ATS1; dbSNP:rs104886267)"
FT /evidence="ECO:0000269|PubMed:9848783"
FT /id="VAR_011285"
FT VARIANT 1379
FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886269)"
FT /id="VAR_001962"
FT VARIANT 1410
FT /note="R -> C (in ATS1; adult and juvenile types;
FT dbSNP:rs104886270)"
FT /evidence="ECO:0000269|PubMed:9452056"
FT /id="VAR_001963"
FT VARIANT 1421
FT /note="G -> W (in ATS1; adult type; dbSNP:rs104886272)"
FT /evidence="ECO:0000269|PubMed:9452056"
FT /id="VAR_001964"
FT VARIANT 1422
FT /note="R -> C (in ATS1; juvenile type; dbSNP:rs144282156)"
FT /id="VAR_001965"
FT VARIANT 1427
FT /note="G -> V (in ATS1; adult type; dbSNP:rs104886274)"
FT /id="VAR_008013"
FT VARIANT 1428
FT /note="L -> M (in dbSNP:rs1569508163)"
FT /evidence="ECO:0000269|PubMed:8940267"
FT /id="VAR_011286"
FT VARIANT 1442
FT /note="G -> D (in ATS1; dbSNP:rs104886277)"
FT /id="VAR_008014"
FT VARIANT 1451
FT /note="G -> S (in ATS1; dbSNP:rs104886280)"
FT /id="VAR_001966"
FT VARIANT 1486
FT /note="G -> A (in ATS1; adult type; dbSNP:rs104886282)"
FT /id="VAR_008015"
FT VARIANT 1488
FT /note="S -> F (in ATS1; dbSNP:rs104886283)"
FT /id="VAR_011287"
FT VARIANT 1498
FT /note="A -> D (in ATS1; dbSNP:rs104886284)"
FT /evidence="ECO:0000269|PubMed:8829632"
FT /id="VAR_001967"
FT VARIANT 1511
FT /note="R -> H (in ATS1; juvenile type; unknown pathological
FT significance; dbSNP:rs104886285)"
FT /evidence="ECO:0000269|PubMed:10684360"
FT /id="VAR_011288"
FT VARIANT 1517
FT /note="P -> T (in ATS1; juvenile type; dbSNP:rs201220208)"
FT /evidence="ECO:0000269|PubMed:8406498,
FT ECO:0000269|PubMed:9452056"
FT /id="VAR_001968"
FT VARIANT 1538
FT /note="W -> S (in ATS1; adult type; dbSNP:rs104886293)"
FT /evidence="ECO:0000269|PubMed:8406498"
FT /id="VAR_001969"
FT VARIANT 1559
FT /note="P -> A (in dbSNP:rs104886295)"
FT /id="VAR_008016"
FT VARIANT 1563
FT /note="R -> Q (in ATS1; dbSNP:rs281874743)"
FT /evidence="ECO:0000269|PubMed:8406498"
FT /id="VAR_001970"
FT VARIANT 1564
FT /note="C -> S (in ATS1; adult type; dbSNP:rs104886287)"
FT /evidence="ECO:0000269|PubMed:1672282"
FT /id="VAR_001971"
FT VARIANT 1567
FT /note="C -> R (in ATS1; juvenile type; dbSNP:rs104886288)"
FT /id="VAR_011289"
FT VARIANT 1596
FT /note="G -> D (in ATS1; dbSNP:rs104886297)"
FT /evidence="ECO:0000269|PubMed:9452056"
FT /id="VAR_001972"
FT VARIANT 1597..1685
FT /note="Missing (in ATS1)"
FT /evidence="ECO:0000269|PubMed:7853788"
FT /id="VAR_019594"
FT VARIANT 1649
FT /note="L -> R (in ATS1; adult type; dbSNP:rs104886303)"
FT /evidence="ECO:0000269|PubMed:11223851,
FT ECO:0000269|PubMed:8651292, ECO:0000269|PubMed:9848783"
FT /id="VAR_001973"
FT VARIANT 1677
FT /note="R -> P (in ATS1; dbSNP:rs104886308)"
FT /evidence="ECO:0000269|PubMed:11223851"
FT /id="VAR_011290"
FT VARIANT 1677
FT /note="R -> Q (in ATS1; dbSNP:rs104886308)"
FT /evidence="ECO:0000269|PubMed:9150741"
FT /id="VAR_001974"
FT VARIANT 1678
FT /note="C -> W (in ATS1; dbSNP:rs104886311)"
FT /evidence="ECO:0000269|PubMed:10561141"
FT /id="VAR_011291"
FT VARIANT 1679..1685
FT /note="Missing (in ATS1)"
FT /id="VAR_019595"
FT CONFLICT 440..441
FT /note="AG -> GS (in Ref. 5; AAA99480)"
FT /evidence="ECO:0000305"
FT CONFLICT 625..628
FT /note="FGPP -> LALQ (in Ref. 5; AAA99480)"
FT /evidence="ECO:0000305"
FT CONFLICT 667..668
FT /note="LP -> FR (in Ref. 5; AAA99480)"
FT /evidence="ECO:0000305"
FT CONFLICT 888
FT /note="A -> R (in Ref. 5; AAA99480)"
FT /evidence="ECO:0000305"
FT STRAND 1461..1467
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1469..1472
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1481..1494
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1497..1500
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1506..1508
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1509..1512
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1518..1521
FT /evidence="ECO:0007829|PDB:6WKU"
FT TURN 1523..1525
FT /evidence="ECO:0007829|PDB:5NAZ"
FT STRAND 1527..1530
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1535..1540
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1554..1560
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1563..1571
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1573..1577
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1579..1582
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1590..1603
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1605..1607
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1609..1611
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1617..1619
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1620..1623
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1629..1633
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1636..1639
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1645..1650
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1654..1656
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1657..1659
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1664..1666
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1668..1670
FT /evidence="ECO:0007829|PDB:6WKU"
FT HELIX 1672..1674
FT /evidence="ECO:0007829|PDB:6WKU"
FT STRAND 1677..1683
FT /evidence="ECO:0007829|PDB:6WKU"
SQ SEQUENCE 1685 AA; 161044 MW; 4450A6762F12A626 CRC64;
MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG
LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG
IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG
IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP
PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN
IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG
PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT
CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF
PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT
QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI
PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP
GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG
IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL
GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI
GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG
PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG
NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP
GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG DQGPPGLQGN PGRPGLNGMK
GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP GLIGPPGPPG LPGPSGQSII IKGDAGPPGI
PGQPGLKGLP GPQGPQGLPG PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP
PGPDGLQGPP GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ PLKGQSIQPF
ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM MHTSAGAEGS GQALASPGSC
LEEFRSAPFI ECHGRGTCNY YANSYSFWLA TVDVSDMFSK PQSETLKAGD LRTRISRCQV
CMKRT
