HYDIN_HUMAN
ID HYDIN_HUMAN Reviewed; 5121 AA.
AC Q4G0P3; A6NC70; A6NLZ0; B4DQY4; B4DRN4; F5H6V3; Q8N3H8; Q8N3P6; Q8TC08;
AC Q96JG3; Q96SS4; Q9H5U3; Q9H9B8; Q9NTI0; Q9UBE5;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Hydrocephalus-inducing protein homolog;
GN Name=HYDIN; Synonyms=HYDIN1, KIAA1864;
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 [LARGE SCALE MRNA] (ISOFORMS 4; 6 AND 7), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4575-5121 (ISOFORM 1).
RC TISSUE=Lung, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 715-5121 (ISOFORM 4), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4141-5121 (ISOFORM 1).
RC TISSUE=Amygdala, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP IDENTIFICATION.
RX PubMed=16938426; DOI=10.1016/j.ygeno.2006.07.012;
RA Doggett N.A., Xie G., Meincke L.J., Sutherland R.D., Mundt M.O.,
RA Berbari N.S., Davy B.E., Robinson M.L., Rudd M.K., Weber J.L.,
RA Stallings R.L., Han C.;
RT "A 360-kb interchromosomal duplication of the human HYDIN locus.";
RL Genomics 88:762-771(2006).
RN [6]
RP REVIEW.
RX PubMed=17296793; DOI=10.1083/jcb.200701113;
RA Smith E.F.;
RT "Hydin seek: finding a function in ciliary motility.";
RL J. Cell Biol. 176:403-404(2007).
RN [7]
RP INVOLVEMENT IN CILD5.
RX PubMed=23022101; DOI=10.1016/j.ajhg.2012.08.016;
RA Olbrich H., Schmidts M., Werner C., Onoufriadis A., Loges N.T., Raidt J.,
RA Banki N.F., Shoemark A., Burgoyne T., Al Turki S., Hurles M.E., Kohler G.,
RA Schroeder J., Nurnberg G., Nurnberg P., Chung E.M., Reinhardt R.,
RA Marthin J.K., Nielsen K.G., Mitchison H.M., Omran H.;
RT "Recessive HYDIN mutations cause primary ciliary dyskinesia without
RT randomization of left-right body asymmetry.";
RL Am. J. Hum. Genet. 91:672-684(2012).
RN [8]
RP INVOLVEMENT IN CILD5.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
RN [9]
RP STRUCTURE BY NMR OF 458-563.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the C-terminal PAPD-like domain from human HYDIN
RT protein.";
RL Submitted (JUL-2007) to the PDB data bank.
CC -!- FUNCTION: Required for ciliary motility. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with KIF9. {ECO:0000250|UniProtKB:Q80W93}.
CC -!- INTERACTION:
CC Q4G0P3-6; Q9UBV8: PEF1; NbExp=3; IntAct=EBI-14748124, EBI-724639;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305}. Cytoplasm,
CC cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q80W93}.
CC Note=Localizes in the cilium axoneme in a SPEF1-dependent manner.
CC {ECO:0000250|UniProtKB:Q80W93}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q4G0P3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4G0P3-2; Sequence=VSP_024684, VSP_024697, VSP_024698;
CC Name=4;
CC IsoId=Q4G0P3-5; Sequence=VSP_024691, VSP_024692;
CC Name=5;
CC IsoId=Q4G0P3-6; Sequence=VSP_024687, VSP_024688;
CC Name=6;
CC IsoId=Q4G0P3-8; Sequence=VSP_042692, VSP_042693, VSP_042694;
CC Name=7;
CC IsoId=Q4G0P3-10; Sequence=VSP_046818, VSP_042693, VSP_042694;
CC -!- DISEASE: Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An
CC autosomal recessive form of primary dyskinesia, a disorder
CC characterized by abnormalities of motile cilia. Respiratory infections
CC leading to chronic inflammation and bronchiectasis are recurrent, due
CC to defects in the respiratory cilia; reduced fertility is often
CC observed in male patients due to abnormalities of sperm tails. Half of
CC the patients exhibit randomization of left-right body asymmetry and
CC situs inversus, due to dysfunction of monocilia at the embryonic node.
CC Primary ciliary dyskinesia associated with situs inversus is referred
CC to as Kartagener syndrome. CILD5 is characterized by early onset of a
CC progressive decline in lung function due to an inability to clear mucus
CC and particles from the airways. Affected individuals have recurrent
CC infections of the sinuses, ears, airways, and lungs. Sperm motility is
CC also decreased. Individuals with CILD5 do not have situs inversus.
CC {ECO:0000269|PubMed:23022101, ECO:0000269|PubMed:25186273}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH28351.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15527.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK022933; BAB14314.1; -; mRNA.
DR EMBL; AK026688; BAB15527.1; ALT_FRAME; mRNA.
DR EMBL; AK299016; BAG61096.1; -; mRNA.
DR EMBL; AK299348; BAG61346.1; -; mRNA.
DR EMBL; AC027281; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099495; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC138625; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028351; AAH28351.2; ALT_INIT; mRNA.
DR EMBL; BC043273; AAH43273.1; -; mRNA.
DR EMBL; AL122038; CAB59178.1; -; mRNA.
DR EMBL; AL133042; CAB61370.1; -; mRNA.
DR EMBL; AL137259; CAB70660.1; -; mRNA.
DR CCDS; CCDS10897.1; -. [Q4G0P3-5]
DR CCDS; CCDS56004.1; -. [Q4G0P3-8]
DR CCDS; CCDS56005.1; -. [Q4G0P3-10]
DR CCDS; CCDS59269.1; -. [Q4G0P3-1]
DR PIR; T42699; T42699.
DR PIR; T46330; T46330.
DR RefSeq; NP_001185471.1; NM_001198542.1. [Q4G0P3-8]
DR RefSeq; NP_001185472.1; NM_001198543.1. [Q4G0P3-10]
DR RefSeq; NP_001257903.1; NM_001270974.2. [Q4G0P3-1]
DR RefSeq; NP_060028.2; NM_017558.4. [Q4G0P3-5]
DR PDB; 2E6J; NMR; -; A=459-563.
DR PDB; 2YS4; NMR; -; A=182-296.
DR PDBsum; 2E6J; -.
DR PDBsum; 2YS4; -.
DR BMRB; Q4G0P3; -.
DR SMR; Q4G0P3; -.
DR BioGRID; 120142; 10.
DR IntAct; Q4G0P3; 5.
DR STRING; 9606.ENSP00000377197; -.
DR iPTMnet; Q4G0P3; -.
DR PhosphoSitePlus; Q4G0P3; -.
DR BioMuta; HYDIN; -.
DR DMDM; 327478578; -.
DR EPD; Q4G0P3; -.
DR MassIVE; Q4G0P3; -.
DR MaxQB; Q4G0P3; -.
DR PaxDb; Q4G0P3; -.
DR PeptideAtlas; Q4G0P3; -.
DR PRIDE; Q4G0P3; -.
DR ProteomicsDB; 27301; -.
DR ProteomicsDB; 62119; -. [Q4G0P3-1]
DR ProteomicsDB; 62120; -. [Q4G0P3-2]
DR ProteomicsDB; 62121; -. [Q4G0P3-5]
DR ProteomicsDB; 62122; -. [Q4G0P3-6]
DR ProteomicsDB; 62123; -. [Q4G0P3-8]
DR Antibodypedia; 66504; 48 antibodies from 12 providers.
DR DNASU; 54768; -.
DR Ensembl; ENST00000321489.9; ENSP00000314736.5; ENSG00000157423.18. [Q4G0P3-5]
DR Ensembl; ENST00000393567.7; ENSP00000377197.2; ENSG00000157423.18. [Q4G0P3-1]
DR Ensembl; ENST00000538248.5; ENSP00000444970.1; ENSG00000157423.18. [Q4G0P3-8]
DR Ensembl; ENST00000541601.5; ENSP00000437341.1; ENSG00000157423.18. [Q4G0P3-10]
DR Ensembl; ENST00000634268.1; ENSP00000489181.1; ENSG00000283022.2. [Q4G0P3-8]
DR Ensembl; ENST00000634392.1; ENSP00000489221.1; ENSG00000283022.2. [Q4G0P3-10]
DR Ensembl; ENST00000634745.1; ENSP00000489246.1; ENSG00000283022.2. [Q4G0P3-5]
DR Ensembl; ENST00000635381.2; ENSP00000489526.1; ENSG00000283022.2. [Q4G0P3-1]
DR GeneID; 54768; -.
DR KEGG; hsa:54768; -.
DR MANE-Select; ENST00000393567.7; ENSP00000377197.2; NM_001270974.2; NP_001257903.1.
DR UCSC; uc010vmc.3; human. [Q4G0P3-1]
DR CTD; 54768; -.
DR DisGeNET; 54768; -.
DR GeneCards; HYDIN; -.
DR GeneReviews; HYDIN; -.
DR HGNC; HGNC:19368; HYDIN.
DR HPA; ENSG00000157423; Tissue enhanced (brain, choroid plexus).
DR MalaCards; HYDIN; -.
DR MIM; 608647; phenotype.
DR MIM; 610812; gene.
DR neXtProt; NX_Q4G0P3; -.
DR OpenTargets; ENSG00000157423; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA134866950; -.
DR VEuPathDB; HostDB:ENSG00000157423; -.
DR eggNOG; ENOG502QQ4F; Eukaryota.
DR GeneTree; ENSGT00610000086095; -.
DR HOGENOM; CLU_000116_1_0_1; -.
DR InParanoid; Q4G0P3; -.
DR OMA; AHLQMEV; -.
DR OrthoDB; 3322at2759; -.
DR PhylomeDB; Q4G0P3; -.
DR TreeFam; TF340616; -.
DR PathwayCommons; Q4G0P3; -.
DR SignaLink; Q4G0P3; -.
DR SIGNOR; Q4G0P3; -.
DR BioGRID-ORCS; 54768; 46 hits in 1056 CRISPR screens.
DR ChiTaRS; HYDIN; human.
DR EvolutionaryTrace; Q4G0P3; -.
DR GenomeRNAi; 54768; -.
DR Pharos; Q4G0P3; Tbio.
DR PRO; PR:Q4G0P3; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q4G0P3; protein.
DR Bgee; ENSG00000157423; Expressed in right uterine tube and 101 other tissues.
DR ExpressionAtlas; Q4G0P3; baseline and differential.
DR Genevisible; Q4G0P3; HS.
DR GO; GO:1990716; C:axonemal central apparatus; ISS:UniProtKB.
DR GO; GO:1990718; C:axonemal central pair projection; IEA:Ensembl.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:1904158; P:axonemal central apparatus assembly; IBA:GO_Central.
DR GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR GO; GO:0002064; P:epithelial cell development; IEA:Ensembl.
DR GO; GO:0060438; P:trachea development; IEA:Ensembl.
DR GO; GO:0021591; P:ventricular system development; IEA:Ensembl.
DR Gene3D; 2.60.40.10; -; 22.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR031549; ASH.
DR InterPro; IPR033305; Hydin-like.
DR InterPro; IPR033768; Hydin_ADK.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR23053; PTHR23053; 1.
DR Pfam; PF15780; ASH; 1.
DR Pfam; PF17213; Hydin_ADK; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell projection; Ciliopathy;
KW Coiled coil; Cytoplasm; Cytoskeleton; Kartagener syndrome;
KW Primary ciliary dyskinesia; Reference proteome.
FT CHAIN 1..5121
FT /note="Hydrocephalus-inducing protein homolog"
FT /id="PRO_0000284844"
FT REGION 363..754
FT /note="Interaction with KIF9"
FT /evidence="ECO:0000250|UniProtKB:Q80W93"
FT REGION 956..987
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1925..1951
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2155..2186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2333..2459
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2482..2534
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2664..2684
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3852..3874
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1908..1933
FT /evidence="ECO:0000255"
FT COILED 2267..2365
FT /evidence="ECO:0000255"
FT COILED 2504..2549
FT /evidence="ECO:0000255"
FT COMPBIAS 1936..1951
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2333..2374
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2395..2426
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2440..2455
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2489..2534
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3856..3874
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..3823
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024684"
FT VAR_SEQ 1
FT /note="M -> MESAGGFKLGMEPLSGGGVCEKKKLLKM (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042692"
FT VAR_SEQ 1
FT /note="M -> MESAGGFKLGEKKKLLKM (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046818"
FT VAR_SEQ 693..708
FT /note="CVVPALHLVNTEVDFG -> YCSPACSSPESPPSLQ (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024687"
FT VAR_SEQ 709..5121
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024688"
FT VAR_SEQ 923
FT /note="S -> R (in isoform 6 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042693"
FT VAR_SEQ 924..5121
FT /note="Missing (in isoform 6 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042694"
FT VAR_SEQ 1015..1017
FT /note="IVK -> VRG (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_024691"
FT VAR_SEQ 1018..5121
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_024692"
FT VAR_SEQ 3824
FT /note="E -> M (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024697"
FT VAR_SEQ 4887..5121
FT /note="GTFSFEFQPLKAGETFGRLTLHNTDLGYYQYELYLKATPALPEKPVHFQTVL
FT GSSQIILVKFINYTRQRTEYYCRTDCTDFHAEKLINAAPGGQGGTEASVEVLFEPSHLG
FT ETKGILILSSLAGGEYIIPLFGMALPPKPQGPFSIRAGYSIIIPFKNVFYHMVTFSIIV
FT DNPAFTIRAGESVRPKKINNITVSFEGNPSGSKTPITTKLTVSCPPGEGSETGVKWVYY
FT LKGITL -> RWGLTASSRLECSGMIIAPCSLKLLQSRPPPASAS (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024698"
FT VARIANT 451
FT /note="R -> P (in dbSNP:rs7200485)"
FT /id="VAR_031837"
FT VARIANT 584
FT /note="T -> N (in dbSNP:rs7200126)"
FT /id="VAR_031838"
FT VARIANT 690
FT /note="T -> A (in dbSNP:rs10744982)"
FT /id="VAR_031839"
FT VARIANT 724
FT /note="N -> D (in dbSNP:rs3817211)"
FT /id="VAR_031840"
FT VARIANT 1077
FT /note="I -> V (in dbSNP:rs6416709)"
FT /id="VAR_059667"
FT VARIANT 1228
FT /note="V -> L (in dbSNP:rs1774513)"
FT /id="VAR_059668"
FT VARIANT 1534
FT /note="I -> V (in dbSNP:rs1774303)"
FT /id="VAR_059669"
FT VARIANT 1718
FT /note="V -> M (in dbSNP:rs783762)"
FT /id="VAR_051036"
FT VARIANT 1892
FT /note="R -> H (in dbSNP:rs783732)"
FT /id="VAR_051037"
FT VARIANT 1952
FT /note="R -> Q (in dbSNP:rs17321570)"
FT /id="VAR_051038"
FT VARIANT 2087
FT /note="R -> C (in dbSNP:rs1774541)"
FT /id="VAR_059670"
FT VARIANT 2099
FT /note="V -> M (in dbSNP:rs1798337)"
FT /id="VAR_051039"
FT VARIANT 2242
FT /note="Q -> R (in dbSNP:rs2258307)"
FT /id="VAR_059671"
FT VARIANT 2276
FT /note="Q -> R (in dbSNP:rs1815707)"
FT /id="VAR_051040"
FT VARIANT 2298
FT /note="R -> G (in dbSNP:rs1774360)"
FT /id="VAR_059672"
FT VARIANT 2306
FT /note="E -> G (in dbSNP:rs2502726)"
FT /id="VAR_051041"
FT VARIANT 2445
FT /note="N -> I (in dbSNP:rs1798532)"
FT /id="VAR_051042"
FT VARIANT 2455
FT /note="P -> Q (in dbSNP:rs1798531)"
FT /id="VAR_061666"
FT VARIANT 2502
FT /note="L -> S (in dbSNP:rs1798529)"
FT /id="VAR_051043"
FT VARIANT 2530
FT /note="K -> E (in dbSNP:rs1798528)"
FT /id="VAR_059673"
FT VARIANT 2558
FT /note="G -> E (in dbSNP:rs8044142)"
FT /id="VAR_051044"
FT VARIANT 2570
FT /note="D -> N (in dbSNP:rs8044001)"
FT /id="VAR_059674"
FT VARIANT 2589
FT /note="K -> R (in dbSNP:rs1774395)"
FT /id="VAR_051045"
FT VARIANT 2694
FT /note="I -> S (in dbSNP:rs1774449)"
FT /id="VAR_059675"
FT VARIANT 2932
FT /note="P -> L (in dbSNP:rs11075812)"
FT /id="VAR_051046"
FT VARIANT 2937
FT /note="E -> K (in dbSNP:rs8047935)"
FT /id="VAR_051047"
FT VARIANT 2939
FT /note="R -> K (in dbSNP:rs7188837)"
FT /id="VAR_051048"
FT VARIANT 2994
FT /note="E -> G (in dbSNP:rs12102425)"
FT /id="VAR_051049"
FT VARIANT 3116
FT /note="T -> R (in dbSNP:rs1774423)"
FT /id="VAR_051050"
FT VARIANT 3269
FT /note="Y -> D (in dbSNP:rs7197263)"
FT /id="VAR_051051"
FT VARIANT 3291
FT /note="A -> P (in dbSNP:rs1798440)"
FT /id="VAR_059676"
FT VARIANT 3316
FT /note="L -> P (in dbSNP:rs1774331)"
FT /id="VAR_059677"
FT VARIANT 3739
FT /note="A -> T (in dbSNP:rs1774504)"
FT /id="VAR_059678"
FT VARIANT 3742
FT /note="V -> I (in dbSNP:rs1798413)"
FT /id="VAR_059679"
FT VARIANT 3811
FT /note="R -> H (in dbSNP:rs13338821)"
FT /id="VAR_051052"
FT VARIANT 3840
FT /note="V -> L (in dbSNP:rs1798325)"
FT /id="VAR_059680"
FT VARIANT 3869
FT /note="M -> R (in dbSNP:rs7192347)"
FT /id="VAR_059681"
FT VARIANT 3899
FT /note="V -> M (in dbSNP:rs1626593)"
FT /id="VAR_051053"
FT VARIANT 4005
FT /note="T -> A (in dbSNP:rs1539302)"
FT /id="VAR_059682"
FT VARIANT 4026
FT /note="A -> T (in dbSNP:rs11075798)"
FT /id="VAR_051054"
FT VARIANT 4088
FT /note="K -> R (in dbSNP:rs1774416)"
FT /id="VAR_051055"
FT VARIANT 4160
FT /note="E -> Q (in dbSNP:rs1798314)"
FT /id="VAR_059683"
FT VARIANT 4270
FT /note="H -> Y (in dbSNP:rs1891343)"
FT /id="VAR_051056"
FT VARIANT 4363
FT /note="S -> C (in dbSNP:rs1770434)"
FT /id="VAR_059684"
FT VARIANT 4412
FT /note="K -> E (in dbSNP:rs1774480)"
FT /id="VAR_059685"
FT VARIANT 4552
FT /note="M -> L (in dbSNP:rs1770442)"
FT /id="VAR_059686"
FT VARIANT 4606
FT /note="N -> K (in dbSNP:rs783898)"
FT /id="VAR_051058"
FT VARIANT 4869
FT /note="R -> Q (in dbSNP:rs2795652)"
FT /id="VAR_059687"
FT CONFLICT 299
FT /note="L -> P (in Ref. 1; BAB14314)"
FT /evidence="ECO:0000305"
FT CONFLICT 313
FT /note="L -> M (in Ref. 3; AAH28351)"
FT /evidence="ECO:0000305"
FT CONFLICT 460
FT /note="K -> T (in Ref. 1; BAB14314)"
FT /evidence="ECO:0000305"
FT CONFLICT 532
FT /note="T -> I (in Ref. 3; AAH28351)"
FT /evidence="ECO:0000305"
FT CONFLICT 584
FT /note="T -> I (in Ref. 1; BAG61096)"
FT /evidence="ECO:0000305"
FT CONFLICT 881
FT /note="D -> N (in Ref. 1; BAG61096)"
FT /evidence="ECO:0000305"
FT CONFLICT 3945
FT /note="S -> N (in Ref. 3; AAH43273)"
FT /evidence="ECO:0000305"
FT CONFLICT 4663
FT /note="P -> T (in Ref. 3; AAH43273)"
FT /evidence="ECO:0000305"
FT CONFLICT 4667
FT /note="G -> V (in Ref. 1; BAB15527)"
FT /evidence="ECO:0000305"
FT STRAND 204..206
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 210..215
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 217..224
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 227..229
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 231..236
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 241..250
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 255..262
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 265..268
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 275..281
FT /evidence="ECO:0007829|PDB:2YS4"
FT STRAND 460..464
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 466..476
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 479..487
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 493..497
FT /evidence="ECO:0007829|PDB:2E6J"
FT HELIX 503..507
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 509..517
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 524..529
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 535..541
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 543..547
FT /evidence="ECO:0007829|PDB:2E6J"
FT STRAND 554..561
FT /evidence="ECO:0007829|PDB:2E6J"
SQ SEQUENCE 5121 AA; 575892 MW; 47FB2A11C7E50A4F CRC64;
MTSRRLEESM GAVQMGLVNM FKGFQSKVLP PLSPKVVTEE EVNRMLTPSE FLKEMSLTTE
QRLAKTRLMC RPQIIELLDM GETTHQKFSG IDLDQALFQP FPSEIIFQNY TPCEVYEVPL
ILRNNDKIPR LVKVVEESSP YFKVISPKDI GHKVAPGVPS IFRILFTPEE NKDYAHTLTC
VTEREKFIVP IKARGARAIL DFPDKLNFST CPVKYSTQKI LLVRNIGNKN AVFHIKTCRP
FSIEPAIGTL NVGESMQLEV EFEPQSVGDH SGRLIVCYDT GEKVFVSLYG AAIDMNIRLD
KNSLTIEKTY ISLANQRTIT IHNRSNIIAH FLWKVFATQQ EEDREKYRAC DDLIKEEKDE
TDEFFEECIT DPLLREHLSV LSRTFANQRR LVQGDSKLFF NNVFTVEPLE GDVWPNSSAE
ITVYFNPLEA KLYQQTIYCD ILGREIRLPL RIKGEGMGPK IHFNFELLDI GKVFTGSAHC
YEAILYNKGS IDALFNMTPP TSALGACFVF SPKEGIIEPS GVQAIQISFS STILGNFEEE
FLVNVNGSPE PVKLTIRGCV IGPTFHFNVP ALHFGDVSFG FPHTLICSLN NTSLIPMTYK
LRIPGDGLGH KSISYCEQHV DYKRPSWTKE EISSMKPKEF TISPDCGTIR PQGFAAIRVT
LCSNTVQKYE LALVVDVEGI GEEVLALLIT ARCVVPALHL VNTEVDFGHC FLKYPYEKTL
QLANQDDLPG FYEVQPQVCE EVPTVLFSSP TPSGVISPSS TIHIPLVLET QVTGEHRSTV
YISIFGSQDP PLVCHLKSAG EGPVIYVHPN QVDFGNIYVL KDSSRILNLC NQSFIPAFFQ
AHMAHKKSLW TIEPNEGMVP PETDVQLALT ANLNDTLTFK DCVILDIENS STYRIPVQAS
GTGSTIVSDK PFAPELNLGA HFSLDTHYYH FKLINKGRRI QQLFWMNDSF RPQAKLSKKG
RVKKGHAHVQ PQPSGSQEPR DPQSPVFHLH PASMELYPGQ AIDVILEGYS ATPRIVKEKL
VCHAIIGAQK GKSLVMAVNI TCEFVAPLIQ LSTKQLIYRL EKKPNSILKP DYQPLAIKNI
STLPVNLLLS TSGPFFICET DKSLLPATPE PIKLEIDEEK NLLIKFDPSY RNDLNNWVAE
EILAIKYVEH PQIDSLDLRG EVHYPNLSFE TKELDFGCIL NDTELIRYVT ITNCSPLVVK
FRWFFLVNDE ENQIRFVTLP KKPYSAPVSQ MESIPATSEA ASPPAILVTV ESPEMDLNDF
VKTVLVDEDA RPEEKELRKT KASSVISDEI KISSTEIERI YSSQSQVEDQ ESLQTCEQNE
MLSIGIEEVF DILPLFGVLQ PHSSHQISFT FYGHANIIAQ AKALCEVEEG PTYEITLKGE
ASLVNYSFDT KDIHYGLQLF DHVTEREITL TNMGKVGFEF KVLTDHQSSP DNLLPGVPLI
LPVSGFISSH QEQVLKVYYL PGVPEVFKRS FQIQIAHLDP ENITLSGEGI FPQICLDLPR
NLTANEKYEM FLNQARKNTD KEYNKCEMLD HFDIITEEVP EDEPAEVSAH LQMEVERLIV
QSYVLEHQKT TTPDPMDDPC FSHRSRRKLA KIQLPEYILD FGYIILGEVR THIIKIINTS
HFPVSFHADK RVLHETGFST ELDRVKNLPH CETEIFEVRF DPQGANLPVG SKEVILPIKV
VGGPTVHICL QAKVTIPTMT LSRGKVDFAT IQCGQCLVET IQLSNHLQVP CEWFVQSQKP
VDKLEKHMPK YLRQKLRAEL KPKTRIFEIQ PISGVLDPGE KSNVQVKFMP KEEKFYSQTL
VFQIAQSAQK LTLLARGQGL EPRLEFSPSV LDLGPLLLCA PGDEAEVIVK NPCNFPIEFY
SLEFDQQYLI EEKILRKLKG YDSYNTLLLP PRNPGEKLPP ELYEYFKEIK KSKEEQMRAK
YLENLAQENE EEDITSSDQG TSNSTKRTSL SRGISVTSNL EEWHALLVES KTYLEEEEDE
ESLEKIIFQT DKLQSIDSHS MEEVGEVENN PVSKAIARHL GIDISAEGRL AKNRKGIAII
IHGTPLSGKS ANAVSVAKYY NAACLSIDSI VLEAVANSNN IPGIRARELC IRAAIEQSVK
EGEEAAQEAA VGQNVIGQGR LSTDTLGKLA SEMTLVAPEI KPGKSVRGSV VITKSKADSH
GSGSQKQHHS HQSETPQISS SPLPPGPIHR WLSVSPSVGG ETGLMSCVLP DELLVQILAE
RIQLSDCYRG VVFDGLDTLF AQNAAAALLC LLKAIGSREH IYILNMAQDY AAMKAQEKAK
KEQEERKHKG ALEKEKERLQ NMDEEEYDAL TEEEKLTFDR GIQQALRERK KREQERLAKE
MQEKKLQQEL ERQKEEDELK RRVKKGKQGP IKEEPPMKKS QAANKQVPPL TKVDVKMETI
ERKISVREQT MSEKEELNKK KRNMGDVSMH GLPLVQDQED SEGDNSKDPD KQLAPKFKTY
ELTLKDVQNI LMYWDRKQGV QLPPAGMEEA PHEPDDQRQV PLGGRRGRKD RERERLEKER
TEKERLEREK AERERLEKLR ALEERSDWEG EGEEDHEGKK EKDLGVPFLD IQTPDFEGLS
WKQALESDKL PKGEQILDIL GLGASGPPIP PPALFSIVSY PVKRPPLTMT DDLEHFVFVI
PPSEDISLDE KKEMEIESDF LATTNTTKAQ EEQTSSSKGG KQKMKEKIDQ VFEIQKDKRH
MALNRKVLSG EPAGTISQLS DTDLDNFNGQ HSQEKFTRLN HFRWIVPANG EVTLQVHFSS
DEFGNFDQTF NFEILGTCCQ YQLYCRGICT YPYICQDPKV VFPQRKMDMK TNEVIFKKYV
MSTETYYFGP LLCGKSRDKY KSSLFPGNME TLTILNTSLM VVEASFYFQN DVKANTYFLE
PNTMVLKPNE KQILNVWAYP TSVGVFEDSI VCCINDNPEP AIFQLSCQGI RPELELEPRQ
LHFDRLLLHR QESRVVLLRN VTLLPVAWRI TSLEHLGDDF TVSLMQGTIP PEAEYGLHLY
FQPTKPVNIK KAIRLEVLDA ENLLGVVQIE NIMVFAEAYD IALDITFPKG AEGGLDFGIV
RVTEEAKQPL QLKNRGKYEI AFSFSVDSVG ISTPNINSMI SVQPKKGSLT PTEKPTNVQV
FFHAKKEVKI EHQPVLRCQI IEPNISEGGE IIASIPIKFS ANAVYSKYNI TPSSVINFGA
LICGTRKSTT FTIENQGVTD FKFALYKLTG ESPIHQKKAA SHVRHARSRE SESFYKTGSS
RAAKFSDTIQ KEVTTTGQAR FAHGMFTVYP GFGSIPSGGQ QVINVDCVAD AMGKCEEFIA
IDISGRDPAV HPAGILYTLL AEACLPAFVT ENNALIFEEH QICTSANLHH ILQTIESGGL
FVEDENKFIF CNVLVGRQAK ARFKISNVGK ITCDVNIVVR PISNKPFARI VDIFEVEPSK
MCIASHSHAF ATVSFTPQIM QNYQCIFEAT LDGLPSTLAK SRGLVFDIAG EGNLPRVTVV
RPVLHNQYGN PLLLFKRLLL GHSEKLPLIL KNNGVLPAQL HVDLQDELGV FSLKGRPTTA
YIYITEENKP HVKAKKAHTA SLVVSPGDTA EFDVVFHSQK VGRMRGIIHL SVINNQYEET
SIHMVGEGYE DDITLDNIHG LVAPTSQEDI SISEFTEIIE DNDMEDLVAA ALVDHIQFGD
CHIGHSYNAS FTVTNHSQVN LIRFEWPVSA TIAFSPQMGH LHPGCAKDIV VTMKSDVPIN
LKNMRIRCKL SRIMFQLPAD QVPDWDDRMH TVKWVDVPRN MPGTFTTKRK VIETDPEPAH
SVLEENYQEL QLQISANVDF ASYHCQARDV RFKETLVYQT RVFEFDVINS GRVQLEFSWV
SEDTSKAVSF AKPDHQGSAQ KDQLSQGTMH TGSTLDSTMD HWAEGSPQPF SVEPSSGIVP
VGKIQKFKVK FSPLDIGDFE SNLFCQIPNL PPGEQGPVLV AKGRSTLPIC HFDLKDSDYI
SGHQRNPELR GSSGGALDPN TRVIEFTTVG IGGKNLRTFT ILNPTNSTYS FCWISEEIES
LQNPAAFTCL TEKGFIHPEK KAEIVFQFTP FHLGITESSW TFLIPEHNIT VPFLLVGKTT
EPLISLNKSH LNFSSLLIGR EARETVQIIN KEEQGFDFSF QDNSRYSEGF SNSLLVCPME
GWIPPLSRFP IDIFFTPKQE GDVNFNLICN VEKKVHPVTL NVKAEGYTMN VEIKCKDRTG
SITLLTPNQT NIINFYEVEL NECVQCEFNF INTGKFTFSF QAQLCGSKTL LQYLEFSPID
STVDVGQSVH ATLSFQPLKK CVLTDLELII KISHGPTFMC NISGCAVSPA IHFSFTSYNF
GTCFIYQAGM PPYKQTLVIT NKEETPMSID CLYTNTTHLE VNSRVDVVKP GNTLEIPITF
YPRESINYQE LIPFEINGLS QQTVEIKGKG TKMKILVLDP ANRIVKLGAV LPGQVVKRTV
SIMNNSLAQL TFNQSILFTI PELQEPKVLT LAPFHNITLK PKEVCKLEVI FAPKKRVPPF
SEEVFMECMG LLRPLFLLSG CCQALEISLD QEHIPFGPVV YQTQATRRIL MMNTGDVGAR
FKWDIKKFEP HFSISPEEGY ITSGMEVSFE VTYHPTEVGK ESLCKNILCY IQGGSPLSLT
LSGVCVGPPA VKEVVNFTCQ VRSKHTQTIL LSNRTNQTWN LHPIFEGEHW EGPEFITLEA
HQQNKPYEIT YRPRTMNLEN RKHQGTLFFP LPDGTGWLYA LHGTSELPKA VANIYREVPC
KTPYTELLPI TNWLNKPQRF RVIVEILKPE KPDLSITMKG LDYIDVLSGS KKDYKLNFFS
HKEGTYAAKV IFRNEVTNEF LYYNVSFRVI PSGIIKTIEM VTPVRQVASA SIKLENPLPY
SVTFSTECRM PDIALPSQFV VPANSEGTFS FEFQPLKAGE TFGRLTLHNT DLGYYQYELY
LKATPALPEK PVHFQTVLGS SQIILVKFIN YTRQRTEYYC RTDCTDFHAE KLINAAPGGQ
GGTEASVEVL FEPSHLGETK GILILSSLAG GEYIIPLFGM ALPPKPQGPF SIRAGYSIII
PFKNVFYHMV TFSIIVDNPA FTIRAGESVR PKKINNITVS FEGNPSGSKT PITTKLTVSC
PPGEGSETGV KWVYYLKGIT L
