IGFN1_HUMAN
ID IGFN1_HUMAN Reviewed; 1251 AA.
AC Q86VF2; F8WAI1; Q9NT72;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1;
DE AltName: Full=EEF1A2-binding protein 1;
DE AltName: Full=KY-interacting protein 1;
GN Name=IGFN1; Synonyms=EEF1A2BP1, KYIP1;
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 [MRNA] (ISOFORM 2), AND VARIANT TYR-1095.
RC TISSUE=Skeletal muscle;
RA Mansilla F., Garcia C.A., Knudsen C.R., Clark B.F.C.;
RT "Skeletal muscle specific eEF1A2 binding protein.";
RL Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT TYR-1095.
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 4), AND VARIANT
RP TYR-1095.
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 INTERACTION WITH KY, AND TISSUE SPECIFICITY.
RX PubMed=15385448; DOI=10.1093/hmg/ddh308;
RA Beatham J., Romero R., Townsend S.K.M., Hacker T., van der Ven P.F.M.,
RA Blanco G.;
RT "Filamin C interacts with the muscular dystrophy KY protein and is
RT abnormally distributed in mouse KY deficient muscle fibres.";
RL Hum. Mol. Genet. 13:2863-2874(2004).
CC -!- SUBUNIT: Interacts with FLNC (By similarity). Interacts with KY.
CC {ECO:0000250, ECO:0000269|PubMed:15385448}.
CC -!- INTERACTION:
CC Q86VF2; P50222: MEOX2; NbExp=3; IntAct=EBI-10259767, EBI-748397;
CC Q86VF2-5; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-11955401, EBI-11524452;
CC Q86VF2-5; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-11955401, EBI-2548012;
CC Q86VF2-5; Q5BKX5-3: C19orf54; NbExp=3; IntAct=EBI-11955401, EBI-11976299;
CC Q86VF2-5; Q9Y2V7: COG6; NbExp=3; IntAct=EBI-11955401, EBI-3866319;
CC Q86VF2-5; O43186: CRX; NbExp=3; IntAct=EBI-11955401, EBI-748171;
CC Q86VF2-5; O95865: DDAH2; NbExp=3; IntAct=EBI-11955401, EBI-749139;
CC Q86VF2-5; P51116: FXR2; NbExp=3; IntAct=EBI-11955401, EBI-740459;
CC Q86VF2-5; Q08379: GOLGA2; NbExp=3; IntAct=EBI-11955401, EBI-618309;
CC Q86VF2-5; P49639: HOXA1; NbExp=3; IntAct=EBI-11955401, EBI-740785;
CC Q86VF2-5; P31249: HOXD3; NbExp=3; IntAct=EBI-11955401, EBI-3957655;
CC Q86VF2-5; Q7L273: KCTD9; NbExp=3; IntAct=EBI-11955401, EBI-4397613;
CC Q86VF2-5; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-11955401, EBI-14069005;
CC Q86VF2-5; Q6A163: KRT39; NbExp=3; IntAct=EBI-11955401, EBI-11958242;
CC Q86VF2-5; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-11955401, EBI-11962084;
CC Q86VF2-5; Q9NQ69: LHX9; NbExp=3; IntAct=EBI-11955401, EBI-10175218;
CC Q86VF2-5; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-11955401, EBI-741037;
CC Q86VF2-5; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11955401, EBI-16439278;
CC Q86VF2-5; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-11955401, EBI-10172526;
CC Q86VF2-5; P15172: MYOD1; NbExp=3; IntAct=EBI-11955401, EBI-488878;
CC Q86VF2-5; P0CG21: NHLRC4; NbExp=3; IntAct=EBI-11955401, EBI-12868744;
CC Q86VF2-5; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-11955401, EBI-14066006;
CC Q86VF2-5; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-11955401, EBI-302345;
CC Q86VF2-5; Q8WVV4-1: POF1B; NbExp=3; IntAct=EBI-11955401, EBI-11986735;
CC Q86VF2-5; P78424: POU6F2; NbExp=3; IntAct=EBI-11955401, EBI-12029004;
CC Q86VF2-5; P31321: PRKAR1B; NbExp=3; IntAct=EBI-11955401, EBI-2805516;
CC Q86VF2-5; Q6ZRT6: PRR23B; NbExp=3; IntAct=EBI-11955401, EBI-12845180;
CC Q86VF2-5; Q14140: SERTAD2; NbExp=3; IntAct=EBI-11955401, EBI-2822051;
CC Q86VF2-5; Q96R06: SPAG5; NbExp=3; IntAct=EBI-11955401, EBI-413317;
CC Q86VF2-5; Q86VP1: TAX1BP1; NbExp=3; IntAct=EBI-11955401, EBI-529518;
CC Q86VF2-5; P19474: TRIM21; NbExp=3; IntAct=EBI-11955401, EBI-81290;
CC Q86VF2-5; P14373: TRIM27; NbExp=3; IntAct=EBI-11955401, EBI-719493;
CC Q86VF2-5; Q9UPQ4-2: TRIM35; NbExp=3; IntAct=EBI-11955401, EBI-17716262;
CC Q86VF2-5; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-11955401, EBI-5235829;
CC Q86VF2-5; Q15645: TRIP13; NbExp=3; IntAct=EBI-11955401, EBI-358993;
CC Q86VF2-5; Q86WV8: TSC1; NbExp=3; IntAct=EBI-11955401, EBI-12806590;
CC Q86VF2-5; Q5T6F2: UBAP2; NbExp=3; IntAct=EBI-11955401, EBI-2514383;
CC Q86VF2-5; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-11955401, EBI-11975223;
CC Q86VF2-5; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-11955401, EBI-4395669;
CC Q86VF2-5; P0C7X2: ZNF688; NbExp=3; IntAct=EBI-11955401, EBI-4395732;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, myofibril,
CC sarcomere, Z line {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q86VF2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86VF2-2; Sequence=VSP_035055, VSP_035056;
CC Name=3;
CC IsoId=Q86VF2-3; Sequence=VSP_035055, VSP_035056, VSP_035059,
CC VSP_035060;
CC Name=4;
CC IsoId=Q86VF2-4; Sequence=VSP_035057, VSP_035058;
CC Name=5;
CC IsoId=Q86VF2-5; Sequence=VSP_045740;
CC -!- TISSUE SPECIFICITY: Expressed in skeletal muscle.
CC {ECO:0000269|PubMed:15385448}.
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DR EMBL; AY245430; AAO92932.1; -; mRNA.
DR EMBL; AL137493; CAB70770.2; -; Transcribed_RNA.
DR EMBL; AC103925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91347.1; -; Genomic_DNA.
DR EMBL; BC033185; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC131529; AAI31530.1; -; mRNA.
DR CCDS; CCDS53455.1; -. [Q86VF2-5]
DR PIR; T46475; T46475.
DR RefSeq; NP_001158058.1; NM_001164586.1. [Q86VF2-5]
DR RefSeq; XP_011508422.1; XM_011510120.2. [Q86VF2-5]
DR RefSeq; XP_011508423.1; XM_011510121.2. [Q86VF2-5]
DR AlphaFoldDB; Q86VF2; -.
DR BioGRID; 124802; 47.
DR IntAct; Q86VF2; 41.
DR STRING; 9606.ENSP00000334714; -.
DR iPTMnet; Q86VF2; -.
DR PhosphoSitePlus; Q86VF2; -.
DR BioMuta; IGFN1; -.
DR DMDM; 205785468; -.
DR EPD; Q86VF2; -.
DR jPOST; Q86VF2; -.
DR MassIVE; Q86VF2; -.
DR PaxDb; Q86VF2; -.
DR PeptideAtlas; Q86VF2; -.
DR PRIDE; Q86VF2; -.
DR ProteomicsDB; 30502; -.
DR ProteomicsDB; 69997; -. [Q86VF2-1]
DR ProteomicsDB; 69998; -. [Q86VF2-2]
DR ProteomicsDB; 70000; -. [Q86VF2-4]
DR Antibodypedia; 34499; 98 antibodies from 15 providers.
DR DNASU; 91156; -.
DR Ensembl; ENST00000295591.12; ENSP00000295591.9; ENSG00000163395.17. [Q86VF2-1]
DR Ensembl; ENST00000335211.9; ENSP00000334714.4; ENSG00000163395.17. [Q86VF2-5]
DR Ensembl; ENST00000437879.6; ENSP00000399041.2; ENSG00000163395.17. [Q86VF2-4]
DR GeneID; 91156; -.
DR KEGG; hsa:91156; -.
DR MANE-Select; ENST00000335211.9; ENSP00000334714.4; NM_001164586.2; NP_001158058.1. [Q86VF2-5]
DR UCSC; uc001gwc.3; human. [Q86VF2-1]
DR CTD; 91156; -.
DR DisGeNET; 91156; -.
DR GeneCards; IGFN1; -.
DR HGNC; HGNC:24607; IGFN1.
DR HPA; ENSG00000163395; Tissue enriched (skeletal).
DR neXtProt; NX_Q86VF2; -.
DR OpenTargets; ENSG00000163395; -.
DR VEuPathDB; HostDB:ENSG00000163395; -.
DR eggNOG; KOG0613; Eukaryota.
DR GeneTree; ENSGT00940000162073; -.
DR HOGENOM; CLU_006405_2_1_1; -.
DR InParanoid; Q86VF2; -.
DR OMA; LGAPKGM; -.
DR OrthoDB; 103399at2759; -.
DR PhylomeDB; Q86VF2; -.
DR PathwayCommons; Q86VF2; -.
DR SignaLink; Q86VF2; -.
DR BioGRID-ORCS; 91156; 18 hits in 1010 CRISPR screens.
DR ChiTaRS; IGFN1; human.
DR GenomeRNAi; 91156; -.
DR Pharos; Q86VF2; Tbio.
DR PRO; PR:Q86VF2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q86VF2; protein.
DR Bgee; ENSG00000163395; Expressed in gastrocnemius and 122 other tissues.
DR Genevisible; Q86VF2; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0030018; C:Z disc; ISS:UniProtKB.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IBA:GO_Central.
DR GO; GO:0010842; P:retina layer formation; IBA:GO_Central.
DR GO; GO:0007416; P:synapse assembly; IBA:GO_Central.
DR CDD; cd00063; FN3; 4.
DR Gene3D; 2.60.40.10; -; 11.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR040849; MyBP-C_THB.
DR Pfam; PF00041; fn3; 4.
DR Pfam; PF07679; I-set; 5.
DR Pfam; PF18362; THB; 1.
DR SMART; SM00060; FN3; 4.
DR SMART; SM00409; IG; 7.
DR SMART; SM00408; IGc2; 4.
DR SUPFAM; SSF48726; SSF48726; 7.
DR SUPFAM; SSF49265; SSF49265; 3.
DR PROSITE; PS50853; FN3; 4.
DR PROSITE; PS50835; IG_LIKE; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Immunoglobulin domain;
KW Nucleus; Reference proteome; Repeat.
FT CHAIN 1..1251
FT /note="Immunoglobulin-like and fibronectin type III domain-
FT containing protein 1"
FT /id="PRO_0000347186"
FT DOMAIN 29..119
FT /note="Ig-like 1"
FT DOMAIN 309..398
FT /note="Ig-like 2"
FT DOMAIN 454..539
FT /note="Ig-like 3"
FT DOMAIN 646..741
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 746..845
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 847..942
FT /note="Fibronectin type-III 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 946..1030
FT /note="Ig-like 4"
FT DOMAIN 1043..1137
FT /note="Fibronectin type-III 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1151..1245
FT /note="Ig-like 5"
FT REGION 61..81
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 403..454
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 188..221
FT /evidence="ECO:0000255"
FT COMPBIAS 65..81
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 403..436
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..383
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005, ECO:0000303|Ref.1"
FT /id="VSP_035055"
FT VAR_SEQ 384..413
FT /note="TGLYTSSAWLVVEAGKDKDLQSTSADHKLQ -> MGWQPMGENWGCLEEMLN
FT EDQSREPPGHLG (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005, ECO:0000303|Ref.1"
FT /id="VSP_035056"
FT VAR_SEQ 413
FT /note="Q -> QRQGAQASGAEESGSIESQGEKSREQGPRGGSLEGAGPASGLQHIAS
FT PDRDGLGRHGYSLMGDKGTADSAWGPGQEGEGFPVAEGSRATLPRENQSHREGGWARSL
FT AERPHLQGESSESGLGLPEKQQQDRGRDSNSDECWRKAGGWEAGSSRLQAGGLGSSREG
FT KEHRGDSGRQLDRHAPEQLWDARLGPGRGKSDLQGCQSDPVGSWPRGKQIEISQDDSLA
FT EMDRGDAPSRERGRGIVVWGGGTGLGEAGDSNGAGGPGTLELTGGRGSGSKVGMAPESW
FT GSQGGRDADYGEARGYWGSGELLEQIPGGKDFQEPSISGGRKFLLGDGSPEIKAEDSLQ
FT EADGICRGESVVTGSAYKTGPGGPGDPRGCEGVLQELRGRDGQETAWASGEVEYDPRSF
FT QSSQGWTAGHRAAGGIGRIESKGTSPWDDTPSSLRKTGAHHGPGVLGPSGGQEGMGGIW
FT VAGLTESGQGVDARSHWLSRAPGLGAQGSGGTLGDKKGLRGPGSIGSEPDFWNGSGSSR
FT VKGPRGETGYKDGLEGPGRMESRYEGGLGYSREISSKSGAGYSYGSGVPGEMGSGHGAG
FT CRVSPRAPAGVESEEGGGYRHGSGAPGGVWSGNEDSGPAGGGSGRVASLKNGSGGPDGA
FT PMNDTRNWASACQAGMDPRGGHHSDGGLGSPGVTGSAGRGGLKAPGVVETVGMGCVEAE
FT PESSGRIRPWGQTGNYGGFRASEALGAFGEGGYEDGSGGPGAMGPGSLRAGSKVGEGDG
FT TRCPGAKASGAGAGYRDDTRHPESLAPHNGAASGSQWAYGAGNVLGYEDGSELPGPQGT
FT GVRTAYGERSRGLGPRSTGPGGEAGFRDGSGGLQGMGSADGPGCRKGIGSSGEMGSVDK
FT EGYKKDLGAPENMGSGSKADYRDGVGGSGAMGSMDEAGYRKDLGAPEGISSGSKADYRG
FT GLQDSREAGSGSKADYSGGLKGSREIGSMDETDNRKDLGVPEGMGAGYRAGLRGPGEMG
FT SLDESGHRNGIGGYGEMGSGYREDLGAPEGMGTGSKAGYRDGLRGSGEMRSMDEAGYRK
FT NLGAPERMDSGSKAGYRGGLRGSGEMGLIEAGYRKDLGVSEGGGSGSKAGYRGGLGSGE
FT MGSVDKAGYRKDLGASEAIGSGSKAGFTDGLGGSEEMGSVNKAGYRKDLGAPKGMGSGS
FT KASFRDGLGGSGEMGSVNEAGYRKDLGVPEGIGSGSKAGFRDGLGGSEEMGSVNKAGYR
FT KDLGAPKGIGSGSKAGFRDGLGSSGEMGSMDEAGYRKNLGAPEGIGSGSKAGFRDGLGS
FT SVEMGSVNEAGYRKDLGAPEGMGSGSKAGFRDGLGGSGEMGSVNEAGYRKDLGAPKGIG
FT SGSKADFRDALGSSGEMGSMDEAGYRKDLWAPEGIGSGSKAGFRDGLGSSVEMGSVNEA
FT GYRKDLGAPEGMGSGSKAGFRDGLGGSGEMGSVNEAGYRKDLGAPKGIGSGSKADFRDA
FT LGSSGEMGSMDEAGYRKDLWAPEGIGSGSKAGFRDGLGSSVEMGSVNEAGYRKDLGAPE
FT GMGSGSKEGFRDGLGGSEEMGSVNKAGYRKDLGAPKGMGSGSKEGFRDGLGGSEEMGSM
FT DEAGYRKDLGAPEGIGSGSKAGFRDGLGGSEEMRSMDEAGYRKDLGAPERIGSGSKAGF
FT RDGLGSSVEMGSVNEAGYRKDLGAPKGMGSGSKTGFRDGLGGSEEMESMDEAGYRKDLG
FT APEGIGSGSKAGFRDGLGSSTEMGSVNEAGYRKDLGAPKGMGSESKAGFRDGLGSSGEM
FT GSMDEAGYRKDLGAPEGMGSGSKAGFRDGLGGSEEMGSVNKAGYRKDLGAPKGMGSGSK
FT AGFRDGLGSSGEMGSMDEADYRKDLGAPEEMGSGSYTDYRNGLGSSGKISSGDEAGYKN
FT VLGGSGRNPLGSEAGSRGSLEDSGYILSWNEAGSRQGFGGTSGMGSGSEVSYRGGSGGS
FT GETGPEGKMGYGDGSGRLGVPGSLAGIGHEAGPRGHKAMGHRSGYWVASEGDTNSKDGP
FT ERARETRLVDGAGPGVEPGMAGMPGTAGGMAHRDSLRGTGVLGSQGGRQTLSDERGSTK
FT DLGGYGTSGIPEASEAAGAKGKPDVKEWQDSSGTPGSSRDRGAPRVKDRSPDQAGIMGA
FT SGFLDGKGAVEGETWAGMAALGSGYERDIWKAGPGMTDRGRVAGQGGLASQGGGDSLLG
FT GRRVGSGSSVGTGQDLDSGSMPGGRGKSTSGPADRQGTSNAWAPDWENQGFSQGSIDAG
FT KQPAGSRASGSLQEKDAAFGGTHEGPGGFKGGEGAPGQEAAGGCRSPWSLDSKGSSPGR
FT GSSVDAEDSGILGKGNSTEWGNALTPKPGESGPQGAWNGLDGPFGRKASRDRSGGTQDL
FT SSQRGKGQRGGKRSLGEQGSLEAENGEVQGPGALKEDEGQGVEEAGRSGRRPGSLRSRS
FT QAQSGAEVGGGKRRGADEAGSMGWQPMGENWGCLEEMLNEDQSREPPGHLG (in
FT isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_045740"
FT VAR_SEQ 566..570
FT /note="VIVKI -> IQTYH (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035057"
FT VAR_SEQ 571..1251
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035058"
FT VAR_SEQ 974..988
FT /note="AMPMPEVTWLKDGLP -> HARRPLGPSTCRRTC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_035059"
FT VAR_SEQ 989..1251
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_035060"
FT VARIANT 1056
FT /note="T -> M (in dbSNP:rs6690992)"
FT /id="VAR_046035"
FT VARIANT 1095
FT /note="H -> Y (in dbSNP:rs3738270)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1,
FT ECO:0000269|Ref.4"
FT /id="VAR_046036"
SQ SEQUENCE 1251 AA; 137763 MW; 1730143C58C58DAF CRC64;
MAGKLRKSHI PGVSIWQLVE EIPEGCSTPD FEQKPVTSAL PEGKNAVFRA VVCGEPRPEV
RWQNSKGDLS DSSKYKISSS PGSKEHVLQI NKLTGEDTDL YRCTAVNAYG EAACSVRLTV
IEVGFRKNRK RHREPQEDLR KELMDFRKLL KKRAPPAPKK KMDLEQIWQL LMTADRKDYE
KICLKYGIVD YRGMLRRLQE MKKEQEDKMA QYINTISSLR HIRVTKDGNA KFDLELDLKD
SQSKIYLYKD GEMIPYGFNN QTKHCLRRLG KRYEFQIQDL RPEDSGIYQV KVEDAVVFST
ELEASAIPPR VVVPLAETHC EEQGDAVFEC TLSSPCPSAA WHFRHRLLHP SDKYEVYVSP
DGLTHRLVVR GARFSDMGPY SLGTGLYTSS AWLVVEAGKD KDLQSTSADH KLQSRRSGKD
GRLDIYGERR DATRSSTSRY KPGTGSFSKD AQGPMGHFSQ GLADMEVQPG EAATLSCTLT
SDLGPGTWFK DGVKLTTQDG VIFKQDGLVH SLFITHVQGT QAGRYTFVAG DQQSEATLTV
QDSPTIAPDV TEKLREPLVV KAGKPVIVKI PFQSHLPIQA AWRKDGAEVV GSSDREAQVD
LGDGYTRLCL PSAGRKDCGQ YSVTLRSEGG SVQAELTLQV IDKPDPPQGP MEVQDCHRAG
VCLRWRPPRD NGGRTVECYV VERRQAGRST WLKVGEAPAD STTFTDAHVE PGRKYTFRVR
AVTSEGAGEA LESEEILVAP EALPKAPSAP AILSASSQGI TLTWTAPRGP GSAHILGYLI
ERRKKGSNTW TAVNDQPVPE RRWTVADVRQ GCQYEFRVTA VAPSGPGEPG PPSDAVFARD
PMRPPGLVRN LQVTDRSNTS ITLSWAGPDT QEGDEAQGYV VELCSSDSLQ WLPCHVGTVP
VTTYTAKGLR PGEGYFVRVT AVNEGGQSQP SALDTLVQAM PVTVCPKFLV DSSTKDLLTV
KVGDTVRVPV SFEAMPMPEV TWLKDGLPLP KRSVTVTKDG LTQLLIPVAG LSDSGLYTVV
LRTLQGKEVA HSFRIRVAAC PQAPGPIHLQ ENVPGTVTAE WEPSPDEAQD VPLHYAVFTR
SSAHGPWHEA ADRIHTNRFT LLGILPGHEY HFRVVAKNEL GASKPSDTSQ PWCIPRQRDR
FTVKAPCYRE PDLSQKPRFL VGLRSHLLPQ GCECCMSCAV QGSPRPHVTW FKNDRSLEGN
PAVYSTDLLG VCSLTIPSVS PKDSGEYKAV AENTLGQAVS TATLIVIEPS T
