CCD40_HUMAN
ID CCD40_HUMAN Reviewed; 1142 AA.
AC Q4G0X9; A8MTD2; C9JTI9; C9JTJ0; C9JXW1; J3QSY2; Q6PE47; Q9HCD2; Q9NWL5;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Coiled-coil domain-containing protein 40 {ECO:0000305};
GN Name=CCDC40 {ECO:0000312|HGNC:HGNC:26090};
GN Synonyms=KIAA1640 {ECO:0000303|PubMed:10997877};
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] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Hepatoma;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
RC TISSUE=Prostate, and 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 [6]
RP FUNCTION, AND INVOLVEMENT IN CILD15.
RX PubMed=21131974; DOI=10.1038/ng.727;
RA Becker-Heck A., Zohn I.E., Okabe N., Pollock A., Lenhart K.B.,
RA Sullivan-Brown J., McSheene J., Loges N.T., Olbrich H., Haeffner K.,
RA Fliegauf M., Horvath J., Reinhardt R., Nielsen K.G., Marthin J.K.,
RA Baktai G., Anderson K.V., Geisler R., Niswander L., Omran H., Burdine R.D.;
RT "The coiled-coil domain containing protein CCDC40 is essential for motile
RT cilia function and left-right axis formation.";
RL Nat. Genet. 43:79-84(2011).
RN [7]
RP INVOLVEMENT IN CILD15.
RX PubMed=22693285; DOI=10.1136/jmedgenet-2012-100867;
RA Blanchon S., Legendre M., Copin B., Duquesnoy P., Montantin G., Kott E.,
RA Dastot F., Jeanson L., Cachanado M., Rousseau A., Papon J.F., Beydon N.,
RA Brouard J., Crestani B., Deschildre A., Desir J., Dollfus H., Leheup B.,
RA Tamalet A., Thumerelle C., Vojtek A.M., Escalier D., Coste A., de Blic J.,
RA Clement A., Escudier E., Amselem S.;
RT "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes
RT in primary ciliary dyskinesia.";
RL J. Med. Genet. 49:410-416(2012).
RN [8]
RP INVOLVEMENT IN CILD15.
RX PubMed=23255504; DOI=10.1002/humu.22261;
RA Antony D., Becker-Heck A., Zariwala M.A., Schmidts M., Onoufriadis A.,
RA Forouhan M., Wilson R., Taylor-Cox T., Dewar A., Jackson C., Goggin P.,
RA Loges N.T., Olbrich H., Jaspers M., Jorissen M., Leigh M.W., Wolf W.E.,
RA Daniels M.L., Noone P.G., Ferkol T.W., Sagel S.D., Rosenfeld M., Rutman A.,
RA Dixit A., O'Callaghan C., Lucas J.S., Hogg C., Scambler P.J., Emes R.D.,
RA Chung E.M., Shoemark A., Knowles M.R., Omran H., Mitchison H.M.,
RA Al-Turki S., Anderson C., Antony D., Barroso I., Beales P., Bentham J.,
RA Bertolini S., Bhattacharya S., Calandra S., Carss K., Chatterjee K.,
RA Cirak S., Cosgrove C., Daly A., Danecek P., Durbin R., Fitzpatrick D.,
RA Floyd J., Foley R., Franklin C., Futema M., Graham C., Humphries S.,
RA Hurles M., Joyce C., Leitersdorf E., McCarthy S., Mitchison H.M.,
RA Muddyman D., Muntoni F., Neil A., O'Rahilly S., Onoufriadis A., Parker V.,
RA Payne F., Plagnol V., Raymond L., Savage D.B., Scambler P., Schmidts M.,
RA Schoenmakers N., Seed M., Semple R., Serra E., Stalker J.,
RA Van Bockxmeer F., van Kogelenberg M., Vijayarangakannan P., Walter K.,
RA Whittall R., Williamson K.;
RT "Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary
RT dyskinesia with axonemal disorganization and absent inner dynein arms.";
RL Hum. Mutat. 34:462-472(2013).
RN [9]
RP INVOLVEMENT IN CILD15.
RX PubMed=23402890; DOI=10.1016/j.gene.2013.01.051;
RA Aminoso C., Vallespin E., Fernandez L., Arrabal L.F., Desviat L.R.,
RA Perez B., Santos F., Solera J.;
RT "Identification of the first deletion-insertion involving the complete
RT structure of GAA gene and part of CCDC40 gene mediated by an Alu element.";
RL Gene 519:169-172(2013).
RN [10]
RP INVOLVEMENT IN CILD15.
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 [11]
RP SUBCELLULAR LOCATION.
RX PubMed=27120127; DOI=10.1002/humu.23005;
RA Jeanson L., Thomas L., Copin B., Coste A., Sermet-Gaudelus I.,
RA Dastot-Le Moal F., Duquesnoy P., Montantin G., Collot N., Tissier S.,
RA Papon J.F., Clement A., Louis B., Escudier E., Amselem S., Legendre M.;
RT "Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex
RT subunit, cause primary ciliary dyskinesia with axonemal disorganization.";
RL Hum. Mutat. 37:776-785(2016).
CC -!- FUNCTION: Required for assembly of dynein regulatory complex (DRC) and
CC inner dynein arm (IDA) complexes, which are responsible for ciliary
CC beat regulation, thereby playing a central role in motility in cilia
CC and flagella (PubMed:21131974). Probably acts together with CCDC39 to
CC form a molecular ruler that determines the 96 nanometer (nm) repeat
CC length and arrangements of components in cilia and flagella (By
CC similarity). Not required for outer dynein arm complexes assembly.
CC Required for axonemal recruitment of CCDC39 (PubMed:21131974).
CC {ECO:0000250|UniProtKB:A8IQT2, ECO:0000269|PubMed:21131974}.
CC -!- INTERACTION:
CC Q4G0X9-5; Q9UIA0: CYTH4; NbExp=3; IntAct=EBI-11943297, EBI-11521003;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BI79}. Cell
CC projection, cilium {ECO:0000269|PubMed:27120127}. Note=Localizes to
CC cytoplasm and motile cilium. {ECO:0000250|UniProtKB:Q8BI79}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q4G0X9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4G0X9-2; Sequence=VSP_028308, VSP_028309;
CC Name=3;
CC IsoId=Q4G0X9-3; Sequence=VSP_028302, VSP_028303;
CC Name=4;
CC IsoId=Q4G0X9-4; Sequence=VSP_028306, VSP_028307;
CC Name=5;
CC IsoId=Q4G0X9-5; Sequence=VSP_028304, VSP_028305;
CC -!- DISEASE: Ciliary dyskinesia, primary, 15 (CILD15) [MIM:613808]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia; reduced fertility
CC is often observed in male patients due to abnormalities of sperm tails.
CC Half of the patients exhibit randomization of left-right body asymmetry
CC and situs inversus, due to dysfunction of monocilia at the embryonic
CC node. Primary ciliary dyskinesia associated with situs inversus is
CC referred to as Kartagener syndrome. {ECO:0000269|PubMed:21131974,
CC ECO:0000269|PubMed:22693285, ECO:0000269|PubMed:23255504,
CC ECO:0000269|PubMed:23402890, ECO:0000269|PubMed:25186273}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry. The disease is characterized by primary ciliary dyskinesia with
CC inner dynein arm (IDA) defects and axonemal dizorganisation: defects in
CC CCDC39 and CCDC40 constitute the major cause of this phenotype.
CC {ECO:0000269|PubMed:22693285, ECO:0000269|PubMed:23255504}.
CC -!- SIMILARITY: Belongs to the CCDC40 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB13466.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=The length of things - Issue
CC 170 of June 2015;
CC URL="https://web.expasy.org/spotlight/back_issues/170/";
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DR EMBL; AB046860; BAB13466.1; ALT_INIT; mRNA.
DR EMBL; AK000760; BAA91365.1; -; mRNA.
DR EMBL; AC087741; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC116025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89578.1; -; Genomic_DNA.
DR EMBL; CH471099; EAW89579.1; -; Genomic_DNA.
DR EMBL; BC035251; AAH35251.1; -; mRNA.
DR EMBL; BC058288; AAH58288.1; -; mRNA.
DR CCDS; CCDS42395.1; -. [Q4G0X9-1]
DR CCDS; CCDS58604.1; -. [Q4G0X9-2]
DR CCDS; CCDS82212.1; -. [Q4G0X9-4]
DR RefSeq; NP_001230271.1; NM_001243342.1. [Q4G0X9-2]
DR RefSeq; NP_001317437.1; NM_001330508.1. [Q4G0X9-4]
DR RefSeq; NP_060420.2; NM_017950.3. [Q4G0X9-1]
DR AlphaFoldDB; Q4G0X9; -.
DR SMR; Q4G0X9; -.
DR BioGRID; 120365; 35.
DR IntAct; Q4G0X9; 26.
DR STRING; 9606.ENSP00000380679; -.
DR iPTMnet; Q4G0X9; -.
DR PhosphoSitePlus; Q4G0X9; -.
DR BioMuta; CCDC40; -.
DR DMDM; 158706471; -.
DR EPD; Q4G0X9; -.
DR jPOST; Q4G0X9; -.
DR MassIVE; Q4G0X9; -.
DR MaxQB; Q4G0X9; -.
DR PaxDb; Q4G0X9; -.
DR PeptideAtlas; Q4G0X9; -.
DR PRIDE; Q4G0X9; -.
DR ProteomicsDB; 62140; -. [Q4G0X9-1]
DR ProteomicsDB; 62141; -. [Q4G0X9-2]
DR ProteomicsDB; 62142; -. [Q4G0X9-3]
DR ProteomicsDB; 62143; -. [Q4G0X9-4]
DR ProteomicsDB; 62144; -. [Q4G0X9-5]
DR Antibodypedia; 9999; 55 antibodies from 15 providers.
DR DNASU; 55036; -.
DR Ensembl; ENST00000269318.9; ENSP00000269318.5; ENSG00000141519.15. [Q4G0X9-4]
DR Ensembl; ENST00000374876.4; ENSP00000364010.4; ENSG00000141519.15. [Q4G0X9-5]
DR Ensembl; ENST00000374877.7; ENSP00000364011.3; ENSG00000141519.15. [Q4G0X9-2]
DR Ensembl; ENST00000397545.9; ENSP00000380679.4; ENSG00000141519.15. [Q4G0X9-1]
DR GeneID; 55036; -.
DR KEGG; hsa:55036; -.
DR MANE-Select; ENST00000397545.9; ENSP00000380679.4; NM_017950.4; NP_060420.2.
DR UCSC; uc010dht.4; human. [Q4G0X9-1]
DR UCSC; uc021uem.2; human.
DR CTD; 55036; -.
DR DisGeNET; 55036; -.
DR GeneCards; CCDC40; -.
DR GeneReviews; CCDC40; -.
DR HGNC; HGNC:26090; CCDC40.
DR HPA; ENSG00000141519; Tissue enhanced (choroid plexus, fallopian tube).
DR MalaCards; CCDC40; -.
DR MIM; 613799; gene.
DR MIM; 613808; phenotype.
DR neXtProt; NX_Q4G0X9; -.
DR OpenTargets; ENSG00000141519; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA142672195; -.
DR VEuPathDB; HostDB:ENSG00000141519; -.
DR eggNOG; ENOG502QQ91; Eukaryota.
DR GeneTree; ENSGT00440000035688; -.
DR HOGENOM; CLU_008826_0_0_1; -.
DR InParanoid; Q4G0X9; -.
DR OMA; IHKMEMR; -.
DR OrthoDB; 323186at2759; -.
DR PhylomeDB; Q4G0X9; -.
DR TreeFam; TF325559; -.
DR PathwayCommons; Q4G0X9; -.
DR SignaLink; Q4G0X9; -.
DR BioGRID-ORCS; 55036; 7 hits in 1070 CRISPR screens.
DR ChiTaRS; CCDC40; human.
DR GenomeRNAi; 55036; -.
DR Pharos; Q4G0X9; Tbio.
DR PRO; PR:Q4G0X9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q4G0X9; protein.
DR Bgee; ENSG00000141519; Expressed in right uterine tube and 114 other tissues.
DR ExpressionAtlas; Q4G0X9; baseline and differential.
DR Genevisible; Q4G0X9; HS.
DR GO; GO:0005930; C:axoneme; IDA:SYSCILIA_CCNET.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0070286; P:axonemal dynein complex assembly; IMP:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; IBA:GO_Central.
DR GO; GO:0003341; P:cilium movement; IMP:SYSCILIA_CCNET.
DR GO; GO:0071907; P:determination of digestive tract left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0071910; P:determination of liver left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0035469; P:determination of pancreatic left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IMP:UniProtKB.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IMP:BHF-UCL.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:SYSCILIA_CCNET.
DR GO; GO:0001947; P:heart looping; IMP:BHF-UCL.
DR GO; GO:0036159; P:inner dynein arm assembly; IMP:SYSCILIA_CCNET.
DR GO; GO:0030324; P:lung development; IMP:BHF-UCL.
DR GO; GO:0044458; P:motile cilium assembly; IMP:SYSCILIA_CCNET.
DR GO; GO:0003356; P:regulation of cilium beat frequency; IMP:BHF-UCL.
DR InterPro; IPR037386; CCDC40.
DR PANTHER; PTHR16275; PTHR16275; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium; Coiled coil;
KW Cytoplasm; Kartagener syndrome; Phosphoprotein; Primary ciliary dyskinesia;
KW Reference proteome.
FT CHAIN 1..1142
FT /note="Coiled-coil domain-containing protein 40"
FT /id="PRO_0000305250"
FT REGION 1..197
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 251..274
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 293..319
FT /evidence="ECO:0000255"
FT COILED 349..470
FT /evidence="ECO:0000255"
FT COILED 526..627
FT /evidence="ECO:0000255"
FT COILED 684..950
FT /evidence="ECO:0000255"
FT COILED 1005..1054
FT /evidence="ECO:0000255"
FT COMPBIAS 15..51
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 65..97
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 98..115
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 169..194
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 252
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BI79"
FT VAR_SEQ 1..217
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10997877"
FT /id="VSP_028302"
FT VAR_SEQ 218..225
FT /note="EEFVSQEP -> MVSLSLPP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10997877"
FT /id="VSP_028303"
FT VAR_SEQ 440..478
FT /note="DLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAV -> GVGDTGAAF
FT IPKTTQGDQVSGRGKKKPGTVVARVSPAEL (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028304"
FT VAR_SEQ 479..1142
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028305"
FT VAR_SEQ 521..579
FT /note="RGCQHQAKSTDGEIEAYKKSIMKEEEKNEKLASILNRTETEATLLQKLTTQC
FT LTKQVAL -> SVSLERFPSQNINTARSRLSTTWHSAGILLRGSFLPGASRAFASVCYG
FT GAAVDNRIREC (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028306"
FT VAR_SEQ 580..1142
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028307"
FT VAR_SEQ 945..1030
FT /note="VRLGQLLKQQEKMIRAMELAVARRETVTTQAEGQRKMDRKALTRTDFHHKQL
FT ELRRKIRDVRKATDECTKTVLELEETQRNVSSSL -> KYCRTTQDAHRHVHEQHGTHA
FT GTCTKNTGRAQARARTTRDARGHVHEQHGTRAGTCTNNTGRAQARARTRDARRHVHEHR
FT THTARA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028308"
FT VAR_SEQ 1031..1142
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028309"
FT VARIANT 8
FT /note="A -> P (in dbSNP:rs2289530)"
FT /id="VAR_035193"
FT CONFLICT 117
FT /note="F -> L (in Ref. 2; BAA91365)"
FT /evidence="ECO:0000305"
FT CONFLICT 362
FT /note="K -> R (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT 405
FT /note="Q -> R (in Ref. 2; BAA91365 and 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT 553
FT /note="S -> G (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT 816
FT /note="E -> G (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-2:951
FT /note="Q -> R (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-2:954
FT /note="H -> R (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-2:964
FT /note="H -> R (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-2:970
FT /note="K -> N (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-2:987
FT /note="G -> R (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-2:1013
FT /note="T -> TT (in Ref. 5; AAH35251)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-3:8
FT /note="P -> A (in Ref. 1; BAB13466)"
FT /evidence="ECO:0000305"
FT CONFLICT Q4G0X9-4:570
FT /note="A -> T (in Ref. 2; BAA91365)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1142 AA; 130113 MW; B18A5808B0BEC212 CRC64;
MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA
EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP
QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA
VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD
LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN
RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR
QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ
VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE
ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS
IMKEEEKNEK LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD
QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN QLILRLQKEK
TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ DVKKVNELIT NSQSEISRRT
ILIERKQGLI NFLNKQLERM VSELGGEEVG PLELEIKRLS KLIDEHDGKA VQAQVTWLRL
QQEMVKVTQE QEEQLASLDA SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL
KKLNMLMNKN RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL
VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL LKQQEKMIRA
MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR KIRDVRKATD ECTKTVLELE
ETQRNVSSSL LEKQEKLSVI QADFDTLEAD LTRLGALKRQ NLSEIVALQT RLKHLQAVKE
GRYVFLFRSK QSLVLERQRL DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG
PS
