FAT3_HUMAN
ID FAT3_HUMAN Reviewed; 4557 AA.
AC Q8TDW7; B5MDB0; Q96AU6;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 3.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Protocadherin Fat 3;
DE Short=hFat3;
DE AltName: Full=Cadherin family member 15;
DE AltName: Full=FAT tumor suppressor homolog 3;
DE Flags: Precursor;
GN Name=FAT3; Synonyms=CDHF15, KIAA1989;
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 GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1026-4557 (ISOFORM 2).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 3493-4557 (ISOFORM 3), AND VARIANT GLY-3812.
RC TISSUE=Brain;
RX PubMed=11811999; DOI=10.1006/bbrc.2002.6338;
RA Mitsui K., Nakajima D., Ohara O., Nakayama M.;
RT "Mammalian fat3: a large protein that contains multiple cadherin and EGF-
RT like motifs.";
RL Biochem. Biophys. Res. Commun. 290:1260-1266(2002).
RN [4]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=16865240;
RA Katoh Y., Katoh M.;
RT "Comparative integromics on FAT1, FAT2, FAT3 and FAT4.";
RL Int. J. Mol. Med. 18:523-528(2006).
CC -!- FUNCTION: May play a role in the interactions between neurites derived
CC from specific subsets of neurons during development. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TDW7-3; Sequence=Displayed;
CC Name=3;
CC IsoId=Q8TDW7-1; Sequence=VSP_059739;
CC Name=2;
CC IsoId=Q8TDW7-2; Sequence=VSP_059761;
CC -!- TISSUE SPECIFICITY: Expressed in ES cells, primitive neuroectoderm,
CC fetal brain, infant brain, adult neural tissues and prostate.
CC {ECO:0000269|PubMed:16865240}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH16722.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AP000722; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP000805; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP002514; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP003171; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP003718; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC016722; AAH16722.1; ALT_INIT; mRNA.
DR EMBL; AB076400; BAB86868.1; -; mRNA.
DR RefSeq; NP_001008781.2; NM_001008781.2. [Q8TDW7-3]
DR RefSeq; XP_016872670.1; XM_017017181.1.
DR RefSeq; XP_016872672.1; XM_017017183.1.
DR SMR; Q8TDW7; -.
DR BioGRID; 125669; 66.
DR IntAct; Q8TDW7; 18.
DR STRING; 9606.ENSP00000432586; -.
DR GlyGen; Q8TDW7; 26 sites.
DR iPTMnet; Q8TDW7; -.
DR PhosphoSitePlus; Q8TDW7; -.
DR BioMuta; FAT3; -.
DR DMDM; 172045818; -.
DR EPD; Q8TDW7; -.
DR jPOST; Q8TDW7; -.
DR MassIVE; Q8TDW7; -.
DR MaxQB; Q8TDW7; -.
DR PaxDb; Q8TDW7; -.
DR PeptideAtlas; Q8TDW7; -.
DR PRIDE; Q8TDW7; -.
DR ProteomicsDB; 74356; -. [Q8TDW7-1]
DR ProteomicsDB; 74357; -. [Q8TDW7-2]
DR ProteomicsDB; 74358; -. [Q8TDW7-3]
DR Antibodypedia; 8386; 73 antibodies from 13 providers.
DR DNASU; 120114; -.
DR Ensembl; ENST00000409404.6; ENSP00000387040.2; ENSG00000165323.16. [Q8TDW7-3]
DR Ensembl; ENST00000525166.6; ENSP00000432586.2; ENSG00000165323.16. [Q8TDW7-1]
DR GeneID; 120114; -.
DR KEGG; hsa:120114; -.
DR MANE-Select; ENST00000525166.6; ENSP00000432586.2; NM_001367949.2; NP_001354878.1. [Q8TDW7-1]
DR UCSC; uc001pdj.5; human. [Q8TDW7-3]
DR CTD; 120114; -.
DR DisGeNET; 120114; -.
DR GeneCards; FAT3; -.
DR HGNC; HGNC:23112; FAT3.
DR HPA; ENSG00000165323; Tissue enriched (brain).
DR MIM; 612483; gene.
DR neXtProt; NX_Q8TDW7; -.
DR OpenTargets; ENSG00000165323; -.
DR PharmGKB; PA134962612; -.
DR VEuPathDB; HostDB:ENSG00000165323; -.
DR eggNOG; KOG1219; Eukaryota.
DR GeneTree; ENSGT00940000154981; -.
DR HOGENOM; CLU_000042_2_0_1; -.
DR InParanoid; Q8TDW7; -.
DR OMA; RFHFHVH; -.
DR OrthoDB; 12779at2759; -.
DR PhylomeDB; Q8TDW7; -.
DR TreeFam; TF316403; -.
DR PathwayCommons; Q8TDW7; -.
DR SignaLink; Q8TDW7; -.
DR BioGRID-ORCS; 120114; 3 hits in 220 CRISPR screens.
DR ChiTaRS; FAT3; human.
DR GenomeRNAi; 120114; -.
DR Pharos; Q8TDW7; Tbio.
DR PRO; PR:Q8TDW7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8TDW7; protein.
DR Bgee; ENSG00000165323; Expressed in buccal mucosa cell and 152 other tissues.
DR ExpressionAtlas; Q8TDW7; baseline and differential.
DR Genevisible; Q8TDW7; HS.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:InterPro.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0000904; P:cell morphogenesis involved in differentiation; IEA:Ensembl.
DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central.
DR GO; GO:0016358; P:dendrite development; IEA:Ensembl.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR GO; GO:1904936; P:interneuron migration; IEA:Ensembl.
DR GO; GO:2000171; P:negative regulation of dendrite development; IEA:Ensembl.
DR GO; GO:0010842; P:retina layer formation; IEA:Ensembl.
DR CDD; cd00110; LamG; 1.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR InterPro; IPR001791; Laminin_G.
DR Pfam; PF00028; Cadherin; 26.
DR Pfam; PF02210; Laminin_G_2; 1.
DR PRINTS; PR00205; CADHERIN.
DR SMART; SM00112; CA; 32.
DR SMART; SM00181; EGF; 4.
DR SMART; SM00179; EGF_CA; 3.
DR SMART; SM00282; LamG; 1.
DR SUPFAM; SSF49313; SSF49313; 34.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS00010; ASX_HYDROXYL; 1.
DR PROSITE; PS00232; CADHERIN_1; 19.
DR PROSITE; PS50268; CADHERIN_2; 32.
DR PROSITE; PS00022; EGF_1; 3.
DR PROSITE; PS01186; EGF_2; 1.
DR PROSITE; PS50026; EGF_3; 4.
DR PROSITE; PS01187; EGF_CA; 1.
DR PROSITE; PS50025; LAM_G_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell adhesion; Developmental protein;
KW Disulfide bond; EGF-like domain; Glycoprotein; Membrane; Methylation;
KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..32
FT /evidence="ECO:0000255"
FT CHAIN 33..4557
FT /note="Protocadherin Fat 3"
FT /id="PRO_0000324634"
FT TOPO_DOM 33..4154
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 4155..4175
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 4176..4557
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 44..158
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 159..266
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 264..375
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 377..472
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 473..578
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 579..681
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 727..831
FT /note="Cadherin 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 832..936
FT /note="Cadherin 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 937..1043
FT /note="Cadherin 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1044..1148
FT /note="Cadherin 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1149..1254
FT /note="Cadherin 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1255..1359
FT /note="Cadherin 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1363..1460
FT /note="Cadherin 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1461..1566
FT /note="Cadherin 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1567..1769
FT /note="Cadherin 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1770..1883
FT /note="Cadherin 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1884..1986
FT /note="Cadherin 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1983..2084
FT /note="Cadherin 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2085..2186
FT /note="Cadherin 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2187..2287
FT /note="Cadherin 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2288..2394
FT /note="Cadherin 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2395..2496
FT /note="Cadherin 22"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2497..2600
FT /note="Cadherin 23"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2601..2708
FT /note="Cadherin 24"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2709..2814
FT /note="Cadherin 25"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2815..2924
FT /note="Cadherin 26"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2925..3029
FT /note="Cadherin 27"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3030..3131
FT /note="Cadherin 28"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3132..3236
FT /note="Cadherin 29"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3237..3341
FT /note="Cadherin 30"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3342..3446
FT /note="Cadherin 31"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3447..3551
FT /note="Cadherin 32"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3552..3653
FT /note="Cadherin 33"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 3795..3833
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 3835..4018
FT /note="Laminin G-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT DOMAIN 4021..4058
FT /note="EGF-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 4060..4096
FT /note="EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 4098..4134
FT /note="EGF-like 4; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT REGION 4309..4355
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4397..4424
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4491..4518
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 4326..4350
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 4510
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q8BNA6"
FT CARBOHYD 49
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 342
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 482
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 563
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 668
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 800
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 880
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 899
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1007
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1368
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1430
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1752
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1945
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1994
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1997
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2209
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2293
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2332
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2468
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3001
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3202
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3330
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3450
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3619
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3742
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3927
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 3799..3810
FT /evidence="ECO:0000250"
FT DISULFID 3804..3822
FT /evidence="ECO:0000250"
FT DISULFID 3824..3832
FT /evidence="ECO:0000250"
FT DISULFID 3985..4018
FT /evidence="ECO:0000250"
FT DISULFID 4025..4036
FT /evidence="ECO:0000250"
FT DISULFID 4030..4046
FT /evidence="ECO:0000250"
FT DISULFID 4048..4057
FT /evidence="ECO:0000250"
FT DISULFID 4064..4075
FT /evidence="ECO:0000250"
FT DISULFID 4069..4084
FT /evidence="ECO:0000250"
FT DISULFID 4086..4095
FT /evidence="ECO:0000250"
FT DISULFID 4102..4113
FT /evidence="ECO:0000250"
FT DISULFID 4107..4122
FT /evidence="ECO:0000250"
FT DISULFID 4124..4133
FT /evidence="ECO:0000250"
FT VAR_SEQ 1204..4557
FT /note="LITTTSRKLDREQQAEHFLEVTVTDGGPSPKQSTIWVVVQVLDENDNKPQFP
FT EKVYQIKLPERDRKKRGEPIYRAFAFDRDEGPNAEISYSIVDGNDDGKFFIDPKTGMVS
FT SRKQFTAGSYDILTIKAVDNGRPQKSSTARLHIEWIKKPPPSPIPLTFDEPFYNFTVME
FT SDRVTEIVGVVSVQPANTPLWFDIVGGNFDSAFDAEKGVGTIVIAKPLDAEQRSIYNMS
FT VEVTDGTNVAVTQVFIKVLDNNDNGPEFSQPNYDVTISEDVLPDTEILQIEATDRDEKH
FT KLSYTVHSSIDSISMRKFRIDPSTGVLYTAERLDHEAQDKHILNIMVRDQEFPYRRNLA
FT RVIVNVEDANDHSPYFTNPLYEASVFESAALGSAVLQVTALDKDKGENAELIYTIEAGN
FT TGNMFKIEPVLGIITICKEPDMTTMGQFVLSIKVTDQGSPPMSATAIVRISVTMSDNSH
FT PKFIHKDYQAEVNENVDIGTSVILISAISQSTLIYEVKDGDINGIFTINPYSGVITTQK
FT ALDYERTSSYQLIIQATNMAGMASNATVNIQIVDENDNAPVFLFSQYSGSLSEAAPINS
FT IVRSLDNSPLVIRATDADSNRNALLVYQIVESTAKKFFTVDSSTGAIRTIANLDHETIA
FT HFHFHVHVRDSGSPQLTAESPVEVNIEVTDVNDNPPVFTQAVFETILLLPTYVGVEVLK
FT VSATDPDSEVPPELTYSLMEGSLDHFLIDSNSGVLTIKNNNLSKDHYMLIVKVSDGKFY
FT STSMVTIMVKEAMDSGLHFTQSFYSTSISENNTNITKVAIVNAVGNRLNEPLKYSILNP
FT GNKFKIKSTSGVIQTTGVPFDREEQELYELVVEASRELDHLRVARVVVRVNIEDINDNS
FT PVFVGLPYYAAVQVDAEPGTLIYQVTAIDKDKGPNGEVTYVLQDDYGHFEINPNSGNVI
FT LKEAFNSDLSNIEYGVTILAKDGGKPSLSTSVELPITIVNKAMPVFDKPFYTASVNEDI
FT RMNTPILSINATSPEGQGIIYIIIDGDPFKQFNIDFDTGVLKVVSPLDYEVTSAYKLTI
FT RASDALTGARAEVTVDLLVNDVNDNPPIFDQPTYNTTLSEASLIGTPVLQVVSIDADSE
FT NNKMVHYQIVQDTYNSTDYFHIDSSSGLILTARMLDHELVQHCTLKVRSIDSGFPSLSS
FT EVLVHIYISDVNDNPPVFNQLIYESYVSELAPRGHFVTCVQASDADSSDFDRLEYSILS
FT GNDRTSFLMDSKSGVITLSNHRKQRMEPLYSLNVSVSDGLFTSTAQVHIRVLGANLYSP
FT AFSQSTYVAEVRENVAAGTKVIHVRATDGDPGTYGQISYAIINDFAKDRFLIDSNGQVI
FT TTERLDRENPLEGDVSIFVRALDGGGRTTFCTVRVIVVDENDNAPQFMTVEYRASVRAD
FT VGRGHLVTQVQAIDPDDGANSRITYSLYSEASVSVADLLEIDPDNGWMVTKGNFNQLKN
FT TVLSFFVKAVDGGIPVKHSLIPVYIHVLPPETFLPSFTQSQYSFTIAEDTAIGSTVDTL
FT RILPSQNVWFSTVNGERPENNKGGIFVIEQETGTIKLDKRLDRETSPAFHFKVAATIPL
FT DKVDIVFTVDVDIKVLDLNDNKPVFETSSYDTIIMEGMPVGTKLTQVRAIDMDWGANGQ
FT VTYSLHSDSQPEKVMEAFNIDSNTGWISTLKDLDHETDPTFTFSVVASDLGEAFSLSST
FT ALVSVRVTDINDNAPVFAQEVYRGNVKESDPPGEVVAVLSTWDRDTSDVNRQVSYHITG
FT GNPRGRFALGLVQSEWKVYVKRPLDREEQDIYFLNITATDGLFVTQAMVEVSVSDVNDN
FT SPVCDQVAYTALLPEDIPSNKIILKVSAKDADIGSNGYIRYSLYGSGNSEFFLDPESGE
FT LKTLALLDRERIPVYSLMAKATDGGGRFCQSNIHLILEDVNDNPPVFSSDHYNTCVYEN
FT TATKALLTRVQAVDPDIGINRKVVYSLADSAGGVFSIDSSSGIIILEQPLDREQQSSYN
FT ISVRATDQSPGQSLSSLTTVTITVLDINDNPPVFERRDYLVTVPEDTSPGTQVLAVFAT
FT SKDIGTNAEITYLIRSGNEQGKFKINPKTGGISVSEVLDYELCKRFYLVVEAKDGGTPA
FT LSAVATVNINLTDVNDNPPKFSQDVYSAVISEDALVGDSVILLIAEDVDSQPNGQIHFS
FT IVNGDRDNEFTVDPVLGLVKVKKKLDRERVSGYSLLVQAVDSGIPAMSSTATVNIDISD
FT VNDNSPVFTPANYTAVIQENKPVGTSILQLVVTDRDSFHNGPPFSFSILSGNEEEEFVL
FT DPHGILRSAVVFQHTESLEYVLCVQAKDSGKPQQVSHTYIRVRVIEESTHKPTAIPLEI
FT FIVTMEDDFPGGVIGKIHATDQDMYDVLTFALKSEQKSLFKVNSHDGKIIALGGLDSGK
FT YVLNVSVSDGRFQVPIDVVVHVEQLVHEMLQNTVTIRFENVSPEDFVGLHMHGFRRTLR
FT NAVLTQKQDSLRIISIQPVAGTNQLDMLFAVEMHSSEFYKPAYLIQKLSNARRHLENIM
FT RISAILEKNCSGLDCQEQHCEQGLSLDSHALMTYSTARISFVCPRFYRNVRCTCNGGLC
FT PGSNDPCVEKPCPGDMQCVSYEASRRPFLCQCPPGKLGECSGHTSLSFAGNSYIKYRLS
FT ENSKEEDFKLALRLRTLQSNGIIMYTRANPCIILKIVDGKLWFQLDCGSGPGILGISGR
FT AVNDGSWHSVFLELNRNFTSLSLDDSYVERRRAPLYFQTLSTESSIYFGALVQADNIRS
FT LTDTRVTQVLSGFQGCLDSVILNNNELPLQNKRSSFAEVVGLTELKLGCVLYPDACKRS
FT PCQHGGSCTGLPSGGYQCTCLSQFTGRNCESEITACFPNPCRNGGSCDPIGNTFICNCK
FT AGLTGVTCEEDINECEREECENGGSCVNVFGSFLCNCTPGYVGQYCGLRPVVVPNIQAG
FT HSYVGKEELIGIAVVLFVIFILVVLFIVFRKKVFRKNYSRNNITLVQDPATAALLNKSN
FT GIPFRNLRGSGDGRNVYQEVGPPQVPVRPMAYTPCFQSDSRSNLDKIVDGLGGEHQEMT
FT TFHPESPRILTARRGVVVCSVAPNLPAVSPCRSDCDSIRKNGWDAGTENKGVDDPGEVT
FT CFAGSNKGSNSEVQSLSSFQSDSGDDNAYHWDTSDWMPGARLSDIEEVPNYENQDGGSA
FT HQGSTRELESDYYLGGYDIDSEYPPPHEEEFLSQDQLPPPLPEDFPDQYEALPPSQPVS
FT LASTLSPDCRRRPQFHPSQYLPPHPFPNETDLVGPPASCEFSTFAVSMNQGTEPTGPAD
FT SVSLSLHNSRGTSSSDVSANCGFDDSEVAMSDYESVGELSLASLHIPFVETQHQTQV
FT -> SCSVAQAGMQWHDRSSLQSRTPGFKGYPCLSLLSSWDYRHAPPCPATFLNS (in
FT isoform 2)"
FT /id="VSP_059761"
FT VAR_SEQ 4350
FT /note="N -> NASIVTVIQLVNNVVDTIENEVSVMDQGQNYNR (in isoform
FT 3)"
FT /id="VSP_059739"
FT VARIANT 412
FT /note="S -> F (in dbSNP:rs10830902)"
FT /id="VAR_039851"
FT VARIANT 462
FT /note="I -> V (in dbSNP:rs16917409)"
FT /id="VAR_039852"
FT VARIANT 1167
FT /note="V -> G (in dbSNP:rs11821058)"
FT /id="VAR_039853"
FT VARIANT 1726
FT /note="Q -> R (in dbSNP:rs7949157)"
FT /id="VAR_039854"
FT VARIANT 2293
FT /note="N -> S (in dbSNP:rs16918105)"
FT /id="VAR_039855"
FT VARIANT 2622
FT /note="V -> F (in dbSNP:rs17615477)"
FT /id="VAR_039856"
FT VARIANT 2755
FT /note="I -> V (in dbSNP:rs3847531)"
FT /id="VAR_039857"
FT VARIANT 3518
FT /note="V -> L (in dbSNP:rs10765565)"
FT /id="VAR_039858"
FT VARIANT 3812
FT /note="S -> G (in dbSNP:rs4753069)"
FT /evidence="ECO:0000269|PubMed:11811999"
FT /id="VAR_039859"
SQ SEQUENCE 4557 AA; 501978 MW; 66964BED3E55BC0A CRC64;
MDIIMGHCVG TRPPACCLIL LLFKLLATVS QGLPGTGPLG FHFTHSIYNA TVYENSAART
YVNSQSRMGI TLIDLSWDIK YRIVSGDEEG FFKAEEVIIA DFCFLRIRTK GGNSAILNRE
IQDNYLLIVK GSVRGEDLEA WTKVNIQVLD MNDLRPLFSP TTYSVTIAES TPLRTSVAQV
TATDADIGSN GEFYYYFKNK VDLFSVHPTS GVISLSGRLN YDEKNRYDLE ILAVDRGMKL
YGNNGVSSTA KLYVHIERIN EHAPTIHVVT HVPFSLEKEP TYAVVTVDDL DDGANGEIES
VSIVAGDPLD QFFLAKEGKW LNEYKIKERK QIDWESFPYG YNLTLQAKDK GSPQKCSALK
AVYIGNPTRD TVPIRFEKEV YDVSISEFSP PGVVVAIVKL SPEPIDVEYK LSPGEDAVYF
KINPRSGLIV TARPLNTVKK EVYKLEVTNK EGDLKAQVTI SIEDANDHTP EFQQPLYDAY
VNESVPVGTS VLTVSASDKD KGENGYITYS IASLNLLPFV INQFTGVIST TEELDFESSP
EIYRFIVRAS DWGSPYRHES EVNVTIRIGN VNDNSPLFEK VACQGVISYD FPVGGHITAV
SAIDIDELEL VKYKIISGNE LGFFYLNPDS GVLQLKKSLT NSGIKNGNFA LRITATDGEN
LADPMSINIS VLHGKVSSKS FSCRETRVAQ KLAEKLLIKA KANGKLNLED GFLDFYSINR
QGPYFDKSFP SDVAVKEDLP VGANILKIKA YDADSGFNGK VLFTISDGNT DSCFNIDMET
GQLKVLMPMD REHTDLYLLN ITIYDLGNPQ KSSWRLLTIN VEDANDNSPV FIQDSYSVNI
LESSGIGTEI IQVEARDKDL GSNGEVTYSV LTDTQQFAIN SSTGIVYVAD QLDRESKANY
SLKIEARDKA ESGQQLFSVV TLKVFLDDVN DCSPAFIPSS YSVKVLEDLP VGTVIAWLET
HDPDLGLGGQ VRYSLVNDYN GRFEIDKASG AIRLSKELDY EKQQFYNLTV RAKDKGRPVS
LSSVSFVEVE VVDVNENLHT PYFPDFAVVG SVKENSRIGT SVLQVTARDE DSGRDGEIQY
SIRDGSGLGR FSIDDESGVI TAADILDRET MGSYWLTVYA TDRGVVPLYS TIEVYIEVED
VNDNAPLTSE PIYYPVVMEN SPKDVSVIQI QAEDPDSSSN EKLTYRITSG NPQNFFAINI
KTGLITTTSR KLDREQQAEH FLEVTVTDGG PSPKQSTIWV VVQVLDENDN KPQFPEKVYQ
IKLPERDRKK RGEPIYRAFA FDRDEGPNAE ISYSIVDGND DGKFFIDPKT GMVSSRKQFT
AGSYDILTIK AVDNGRPQKS STARLHIEWI KKPPPSPIPL TFDEPFYNFT VMESDRVTEI
VGVVSVQPAN TPLWFDIVGG NFDSAFDAEK GVGTIVIAKP LDAEQRSIYN MSVEVTDGTN
VAVTQVFIKV LDNNDNGPEF SQPNYDVTIS EDVLPDTEIL QIEATDRDEK HKLSYTVHSS
IDSISMRKFR IDPSTGVLYT AERLDHEAQD KHILNIMVRD QEFPYRRNLA RVIVNVEDAN
DHSPYFTNPL YEASVFESAA LGSAVLQVTA LDKDKGENAE LIYTIEAGNT GNMFKIEPVL
GIITICKEPD MTTMGQFVLS IKVTDQGSPP MSATAIVRIS VTMSDNSHPK FIHKDYQAEV
NENVDIGTSV ILISAISQST LIYEVKDGDI NGIFTINPYS GVITTQKALD YERTSSYQLI
IQATNMAGMA SNATVNIQIV DENDNAPVFL FSQYSGSLSE AAPINSIVRS LDNSPLVIRA
TDADSNRNAL LVYQIVESTA KKFFTVDSST GAIRTIANLD HETIAHFHFH VHVRDSGSPQ
LTAESPVEVN IEVTDVNDNP PVFTQAVFET ILLLPTYVGV EVLKVSATDP DSEVPPELTY
SLMEGSLDHF LIDSNSGVLT IKNNNLSKDH YMLIVKVSDG KFYSTSMVTI MVKEAMDSGL
HFTQSFYSTS ISENNTNITK VAIVNAVGNR LNEPLKYSIL NPGNKFKIKS TSGVIQTTGV
PFDREEQELY ELVVEASREL DHLRVARVVV RVNIEDINDN SPVFVGLPYY AAVQVDAEPG
TLIYQVTAID KDKGPNGEVT YVLQDDYGHF EINPNSGNVI LKEAFNSDLS NIEYGVTILA
KDGGKPSLST SVELPITIVN KAMPVFDKPF YTASVNEDIR MNTPILSINA TSPEGQGIIY
IIIDGDPFKQ FNIDFDTGVL KVVSPLDYEV TSAYKLTIRA SDALTGARAE VTVDLLVNDV
NDNPPIFDQP TYNTTLSEAS LIGTPVLQVV SIDADSENNK MVHYQIVQDT YNSTDYFHID
SSSGLILTAR MLDHELVQHC TLKVRSIDSG FPSLSSEVLV HIYISDVNDN PPVFNQLIYE
SYVSELAPRG HFVTCVQASD ADSSDFDRLE YSILSGNDRT SFLMDSKSGV ITLSNHRKQR
MEPLYSLNVS VSDGLFTSTA QVHIRVLGAN LYSPAFSQST YVAEVRENVA AGTKVIHVRA
TDGDPGTYGQ ISYAIINDFA KDRFLIDSNG QVITTERLDR ENPLEGDVSI FVRALDGGGR
TTFCTVRVIV VDENDNAPQF MTVEYRASVR ADVGRGHLVT QVQAIDPDDG ANSRITYSLY
SEASVSVADL LEIDPDNGWM VTKGNFNQLK NTVLSFFVKA VDGGIPVKHS LIPVYIHVLP
PETFLPSFTQ SQYSFTIAED TAIGSTVDTL RILPSQNVWF STVNGERPEN NKGGIFVIEQ
ETGTIKLDKR LDRETSPAFH FKVAATIPLD KVDIVFTVDV DIKVLDLNDN KPVFETSSYD
TIIMEGMPVG TKLTQVRAID MDWGANGQVT YSLHSDSQPE KVMEAFNIDS NTGWISTLKD
LDHETDPTFT FSVVASDLGE AFSLSSTALV SVRVTDINDN APVFAQEVYR GNVKESDPPG
EVVAVLSTWD RDTSDVNRQV SYHITGGNPR GRFALGLVQS EWKVYVKRPL DREEQDIYFL
NITATDGLFV TQAMVEVSVS DVNDNSPVCD QVAYTALLPE DIPSNKIILK VSAKDADIGS
NGYIRYSLYG SGNSEFFLDP ESGELKTLAL LDRERIPVYS LMAKATDGGG RFCQSNIHLI
LEDVNDNPPV FSSDHYNTCV YENTATKALL TRVQAVDPDI GINRKVVYSL ADSAGGVFSI
DSSSGIIILE QPLDREQQSS YNISVRATDQ SPGQSLSSLT TVTITVLDIN DNPPVFERRD
YLVTVPEDTS PGTQVLAVFA TSKDIGTNAE ITYLIRSGNE QGKFKINPKT GGISVSEVLD
YELCKRFYLV VEAKDGGTPA LSAVATVNIN LTDVNDNPPK FSQDVYSAVI SEDALVGDSV
ILLIAEDVDS QPNGQIHFSI VNGDRDNEFT VDPVLGLVKV KKKLDRERVS GYSLLVQAVD
SGIPAMSSTA TVNIDISDVN DNSPVFTPAN YTAVIQENKP VGTSILQLVV TDRDSFHNGP
PFSFSILSGN EEEEFVLDPH GILRSAVVFQ HTESLEYVLC VQAKDSGKPQ QVSHTYIRVR
VIEESTHKPT AIPLEIFIVT MEDDFPGGVI GKIHATDQDM YDVLTFALKS EQKSLFKVNS
HDGKIIALGG LDSGKYVLNV SVSDGRFQVP IDVVVHVEQL VHEMLQNTVT IRFENVSPED
FVGLHMHGFR RTLRNAVLTQ KQDSLRIISI QPVAGTNQLD MLFAVEMHSS EFYKPAYLIQ
KLSNARRHLE NIMRISAILE KNCSGLDCQE QHCEQGLSLD SHALMTYSTA RISFVCPRFY
RNVRCTCNGG LCPGSNDPCV EKPCPGDMQC VSYEASRRPF LCQCPPGKLG ECSGHTSLSF
AGNSYIKYRL SENSKEEDFK LALRLRTLQS NGIIMYTRAN PCIILKIVDG KLWFQLDCGS
GPGILGISGR AVNDGSWHSV FLELNRNFTS LSLDDSYVER RRAPLYFQTL STESSIYFGA
LVQADNIRSL TDTRVTQVLS GFQGCLDSVI LNNNELPLQN KRSSFAEVVG LTELKLGCVL
YPDACKRSPC QHGGSCTGLP SGGYQCTCLS QFTGRNCESE ITACFPNPCR NGGSCDPIGN
TFICNCKAGL TGVTCEEDIN ECEREECENG GSCVNVFGSF LCNCTPGYVG QYCGLRPVVV
PNIQAGHSYV GKEELIGIAV VLFVIFILVV LFIVFRKKVF RKNYSRNNIT LVQDPATAAL
LNKSNGIPFR NLRGSGDGRN VYQEVGPPQV PVRPMAYTPC FQSDSRSNLD KIVDGLGGEH
QEMTTFHPES PRILTARRGV VVCSVAPNLP AVSPCRSDCD SIRKNGWDAG TENKGVDDPG
EVTCFAGSNK GSNSEVQSLS SFQSDSGDDN AYHWDTSDWM PGARLSDIEE VPNYENQDGG
SAHQGSTREL ESDYYLGGYD IDSEYPPPHE EEFLSQDQLP PPLPEDFPDQ YEALPPSQPV
SLASTLSPDC RRRPQFHPSQ YLPPHPFPNE TDLVGPPASC EFSTFAVSMN QGTEPTGPAD
SVSLSLHNSR GTSSSDVSAN CGFDDSEVAM SDYESVGELS LASLHIPFVE TQHQTQV
