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Protein

Protocadherin Fat 4

Gene

FAT4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:G66-32993-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin Fat 4
Short name:
hFat4
Alternative name(s):
Cadherin family member 14
FAT tumor suppressor homolog 4
Fat-like cadherin protein FAT-J
Gene namesi
Name:FAT4
Synonyms:CDHF14, FATJ
ORF Names:Nbla00548
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:23109. FAT4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini39 – 4504ExtracellularSequence analysisAdd BLAST4466
Transmembranei4505 – 4525HelicalSequence analysisAdd BLAST21
Topological domaini4526 – 4981CytoplasmicSequence analysisAdd BLAST456

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Van Maldergem syndrome 2 (VMLDS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.
See also OMIM:615546
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0709252375E → K in VMLDS2 and HKLLS2. 2 PublicationsCorresponds to variant rs398122955dbSNPEnsembl.1
Natural variantiVAR_0709264159C → F in VMLDS2. 1 PublicationCorresponds to variant rs398122953dbSNPEnsembl.1
Natural variantiVAR_0709274398C → Y in VMLDS2. 1 PublicationCorresponds to variant rs398122954dbSNPEnsembl.1
Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly.
See also OMIM:616006
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071948475F → L in HKLLS2. 1 Publication1
Natural variantiVAR_071949486E → Q in HKLLS2. 1 Publication1
Natural variantiVAR_0709252375E → K in VMLDS2 and HKLLS2. 2 PublicationsCorresponds to variant rs398122955dbSNPEnsembl.1
Natural variantiVAR_0719504282S → F in HKLLS2. 1 PublicationCorresponds to variant rs199682210dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi79633.
MalaCardsiFAT4.
MIMi615546. phenotype.
616006. phenotype.
OpenTargetsiENSG00000196159.
Orphaneti314679. Cerebro-facio-articular syndrome.
2136. Hennekam syndrome.
PharmGKBiPA134954366.

Polymorphism and mutation databases

BioMutaiFAT4.
DMDMi172046149.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 38Sequence analysisAdd BLAST38
ChainiPRO_000032463739 – 4981Protocadherin Fat 4Add BLAST4943

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi84N-linked (GlcNAc...)Sequence analysis1
Glycosylationi237N-linked (GlcNAc...)Sequence analysis1
Glycosylationi393N-linked (GlcNAc...)Sequence analysis1
Glycosylationi416N-linked (GlcNAc...)Sequence analysis1
Glycosylationi435N-linked (GlcNAc...)Sequence analysis1
Glycosylationi483N-linked (GlcNAc...)Sequence analysis1
Glycosylationi551N-linked (GlcNAc...)Sequence analysis1
Glycosylationi615N-linked (GlcNAc...)Sequence analysis1
Glycosylationi676N-linked (GlcNAc...)Sequence analysis1
Glycosylationi721N-linked (GlcNAc...)Sequence analysis1
Glycosylationi825N-linked (GlcNAc...)Sequence analysis1
Glycosylationi880N-linked (GlcNAc...)Sequence analysis1
Glycosylationi946N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1085N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1101N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1104N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1225N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1296N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1389N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1514N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1828N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1899N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1967N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2119N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2387N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2430N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2921N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2937N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3036N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3140N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3217N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3392N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3477N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3706N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3758N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3806 ↔ 3817By similarity
Disulfide bondi3811 ↔ 3848By similarity
Disulfide bondi3850 ↔ 3859By similarity
Disulfide bondi3866 ↔ 3877By similarity
Disulfide bondi3871 ↔ 3886By similarity
Disulfide bondi3888 ↔ 3897By similarity
Disulfide bondi3904 ↔ 3915By similarity
Disulfide bondi3909 ↔ 3924By similarity
Disulfide bondi3926 ↔ 3935By similarity
Disulfide bondi3942 ↔ 3953By similarity
Disulfide bondi3947 ↔ 3962By similarity
Disulfide bondi3964 ↔ 3973By similarity
Glycosylationi4017N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi4133 ↔ 4159By similarity
Disulfide bondi4166 ↔ 4177By similarity
Disulfide bondi4171 ↔ 4186By similarity
Disulfide bondi4188 ↔ 4197By similarity
Glycosylationi4267N-linked (GlcNAc...)Sequence analysis1
Glycosylationi4312N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi4365 ↔ 4398By similarity
Disulfide bondi4430 ↔ 4441By similarity
Disulfide bondi4435 ↔ 4451By similarity
Disulfide bondi4453 ↔ 4462By similarity
Modified residuei4876PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6V0I7.
MaxQBiQ6V0I7.
PaxDbiQ6V0I7.
PeptideAtlasiQ6V0I7.
PRIDEiQ6V0I7.

PTM databases

iPTMnetiQ6V0I7.
PhosphoSitePlusiQ6V0I7.

Expressioni

Tissue specificityi

Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer.2 Publications

Developmental stagei

In embryos at 9 weeks the strongest expression is detected in the apical neuroepithelium, with weaker staining being present in the subventricular zone and within the cortical plate.1 Publication

Gene expression databases

BgeeiENSG00000196159.
CleanExiHS_FAT4.
GenevisibleiQ6V0I7. HS.

Organism-specific databases

HPAiHPA052819.

Interactioni

Subunit structurei

Heterophilic interaction with DCHS1; this interaction affects their respective protein levels. Interacts (via cytoplasmic domain) with MPDZ. Forms a complex with MPP5 and MPDZ.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
TNKS2Q9H2K22EBI-948985,EBI-4398527

Protein-protein interaction databases

BioGridi122763. 24 interactors.
IntActiQ6V0I7. 2 interactors.
MINTiMINT-2876314.
STRINGi9606.ENSP00000377862.

Structurei

3D structure databases

ProteinModelPortaliQ6V0I7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 135Cadherin 1PROSITE-ProRule annotationAdd BLAST93
Domaini136 – 250Cadherin 2PROSITE-ProRule annotationAdd BLAST115
Domaini251 – 353Cadherin 3PROSITE-ProRule annotationAdd BLAST103
Domaini359 – 475Cadherin 4PROSITE-ProRule annotationAdd BLAST117
Domaini476 – 582Cadherin 5PROSITE-ProRule annotationAdd BLAST107
Domaini584 – 689Cadherin 6PROSITE-ProRule annotationAdd BLAST106
Domaini690 – 793Cadherin 7PROSITE-ProRule annotationAdd BLAST104
Domaini794 – 893Cadherin 8PROSITE-ProRule annotationAdd BLAST100
Domaini894 – 996Cadherin 9PROSITE-ProRule annotationAdd BLAST103
Domaini997 – 1100Cadherin 10PROSITE-ProRule annotationAdd BLAST104
Domaini1101 – 1210Cadherin 11PROSITE-ProRule annotationAdd BLAST110
Domaini1211 – 1315Cadherin 12PROSITE-ProRule annotationAdd BLAST105
Domaini1316 – 1420Cadherin 13PROSITE-ProRule annotationAdd BLAST105
Domaini1421 – 1529Cadherin 14PROSITE-ProRule annotationAdd BLAST109
Domaini1529 – 1629Cadherin 15PROSITE-ProRule annotationAdd BLAST101
Domaini1630 – 1740Cadherin 16PROSITE-ProRule annotationAdd BLAST111
Domaini1741 – 1841Cadherin 17PROSITE-ProRule annotationAdd BLAST101
Domaini1842 – 1944Cadherin 18PROSITE-ProRule annotationAdd BLAST103
Domaini1945 – 2051Cadherin 19PROSITE-ProRule annotationAdd BLAST107
Domaini2051 – 2154Cadherin 20PROSITE-ProRule annotationAdd BLAST104
Domaini2155 – 2259Cadherin 21PROSITE-ProRule annotationAdd BLAST105
Domaini2260 – 2364Cadherin 22PROSITE-ProRule annotationAdd BLAST105
Domaini2365 – 2466Cadherin 23PROSITE-ProRule annotationAdd BLAST102
Domaini2467 – 2567Cadherin 24PROSITE-ProRule annotationAdd BLAST101
Domaini2568 – 2669Cadherin 25PROSITE-ProRule annotationAdd BLAST102
Domaini2670 – 2773Cadherin 26PROSITE-ProRule annotationAdd BLAST104
Domaini2773 – 2872Cadherin 27PROSITE-ProRule annotationAdd BLAST100
Domaini2873 – 2983Cadherin 28PROSITE-ProRule annotationAdd BLAST111
Domaini2984 – 3089Cadherin 29PROSITE-ProRule annotationAdd BLAST106
Domaini3090 – 3194Cadherin 30PROSITE-ProRule annotationAdd BLAST105
Domaini3195 – 3298Cadherin 31PROSITE-ProRule annotationAdd BLAST104
Domaini3299 – 3404Cadherin 32PROSITE-ProRule annotationAdd BLAST106
Domaini3405 – 3510Cadherin 33PROSITE-ProRule annotationAdd BLAST106
Domaini3509 – 3620Cadherin 34PROSITE-ProRule annotationAdd BLAST112
Domaini3802 – 3860EGF-like 1PROSITE-ProRule annotationAdd BLAST59
Domaini3862 – 3898EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini3900 – 3936EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini3938 – 3974EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini3975 – 4159Laminin G-like 1PROSITE-ProRule annotationAdd BLAST185
Domaini4162 – 4198EGF-like 5PROSITE-ProRule annotationAdd BLAST37
Domaini4217 – 4398Laminin G-like 2PROSITE-ProRule annotationAdd BLAST182
Domaini4426 – 4463EGF-like 6PROSITE-ProRule annotationAdd BLAST38

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni4706 – 4795Necessary and sufficient for interaction with MPDZBy similarityAdd BLAST90

Sequence similaritiesi

Contains 34 cadherin domains.PROSITE-ProRule annotation
Contains 6 EGF-like domains.PROSITE-ProRule annotation
Contains 2 laminin G-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1219. Eukaryota.
KOG3594. Eukaryota.
ENOG410XPEI. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000074162.
HOVERGENiHBG104800.
InParanoidiQ6V0I7.
KOiK16669.
OMAiVYAIEKS.
OrthoDBiEOG091G000B.
PhylomeDBiQ6V0I7.
TreeFamiTF331335.

Family and domain databases

Gene3Di2.60.120.200. 3 hits.
2.60.40.60. 34 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00028. Cadherin. 32 hits.
PF07645. EGF_CA. 2 hits.
PF12661. hEGF. 1 hit.
PF02210. Laminin_G_2. 2 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 34 hits.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
SM00282. LamG. 2 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 34 hits.
SSF49899. SSF49899. 2 hits.
SSF57184. SSF57184. 2 hits.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS00232. CADHERIN_1. 23 hits.
PS50268. CADHERIN_2. 34 hits.
PS00022. EGF_1. 7 hits.
PS01186. EGF_2. 3 hits.
PS50026. EGF_3. 6 hits.
PS01187. EGF_CA. 2 hits.
PS50025. LAM_G_DOMAIN. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6V0I7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MDLAPDRATG RPWLPLHTLS VSQLLRVFWL LSLLPGQAWV HGAEPRQVFQ
60 70 80 90 100
VLEEQPPGTL VGTIQTRPGF TYRLSESHAL FAINSSTGAL YTTSTIDRES
110 120 130 140 150
LPSDVINLVV LSSAPTYPTE VRVLVRDLND NAPVFPDPSI VVTFKEDSSS
160 170 180 190 200
GRQVILDTAT DSDIGSNGVD HRSYRIIRGN EAGRFRLDIT LNPSGEGAFL
210 220 230 240 250
HLVSKGGLDR EVTPQYQLLV EVEDKGEPKR RGYLQVNVTV QDINDNPPVF
260 270 280 290 300
GSSHYQAGVP EDAVVGSSVL QVAAADADEG TNADIRYRLQ DEGTPFQMDP
310 320 330 340 350
ETGLITVREP LDFEARRQYS LTVQAMDRGV PSLTGRAEAL IQLLDVNDND
360 370 380 390 400
PVVKFRYFPA TSRYASVDEN AQVGTVVALL TVTDADSPAA NGNISVQILG
410 420 430 440 450
GNEQRHFEVQ SSKVPNLSLI KVASALDRER IPSYNLTVSV SDNYGAPPGA
460 470 480 490 500
AVQARSSVAS LVIFVNDIND HPPVFSQQVY RVNLSEEAPP GSYVSGISAT
510 520 530 540 550
DGDSGLNANL RYSIVSGNGL GWFHISEHSG LVTTGSSGGL DRELASQIVL
560 570 580 590 600
NISARDQGVH PKVSYAQLVV TLLDVNDEKP VFSQPEGYDV SVVENAPTGT
610 620 630 640 650
ELLMLRATDG DLGDNGTVRF SLQEAETDRR SFRLDPVSGR LSTISSLDRE
660 670 680 690 700
EQAFYSLLVL ATDLGSPPQS SMARINVSLL DINDNSPVFY PVQYFAHIKE
710 720 730 740 750
NEPGGSYITT VSATDPDLGT NGTVKYSISA GDRSRFQVNA QSGVISTRMA
760 770 780 790 800
LDREEKTAYQ LQIVATDGGN LQSPNQAIVT ITVLDTQDNP PVFSQVAYSF
810 820 830 840 850
VVFENVALGY HVGSVSASTM DLNSNISYLI TTGDQKGMFA INQVTGQLTT
860 870 880 890 900
ANVIDREEQS FYQLKVVASG GTVTGDTMVN ITVKDLNDNS PHFLQAIESV
910 920 930 940 950
NVVENWQAGH SIFQAKAVDP DEGVNGMVLY SLKQNPKNLF AINEKNGTIS
960 970 980 990 1000
LLGPLDVHAG SYQIEILASD MGVPQLSSSV ILTVYVHDVN DNSPVFDQLS
1010 1020 1030 1040 1050
YEVTLSESEP VNSRFFKVQA SDKDSGANGE IAYTIAEGNT GDAFGIFPDG
1060 1070 1080 1090 1100
QLYIKSELDR ELQDRYVLMV VASDRAVEPL SATVNVTVIL EDVNDNRPLF
1110 1120 1130 1140 1150
NSTNYTFYFE EEQRAGSFVG KVSAVDKDFG PNGEVRYSFE MVQPDFELHA
1160 1170 1180 1190 1200
ISGEITNTHQ FDRESLMRRR GTAVFSFTVI ATDQGIPQPL KDQATVHVYM
1210 1220 1230 1240 1250
KDINDNAPKF LKDFYQATIS ESAANLTQVL RVSASDVDEG NNGLIHYSII
1260 1270 1280 1290 1300
KGNEERQFAI DSTSGQVTLI GKLDYEATPA YSLVIQAVDS GTIPLNSTCT
1310 1320 1330 1340 1350
LNIDILDEND NTPSFPKSTL FVDVLENMRI GELVSSVTAT DSDSGDNADL
1360 1370 1380 1390 1400
YYSITGTNNH GTFSISPNTG SIFLAKKLDF ETQSLYKLNI TAKDQGRPPR
1410 1420 1430 1440 1450
SSTMSVVIHV RDFNDNPPSF PPGDIFKSIV ENIPIGTSVI SVTAHDPDAD
1460 1470 1480 1490 1500
INGQLSYTII QQMPRGNHFT IDEVKGTIYT NAEIDREFAN LFELTVKAND
1510 1520 1530 1540 1550
QAVPIETRRY ALKNVTILVT DLNDNVPMFI SQNALAADPS AVIGSVLTTI
1560 1570 1580 1590 1600
MAADPDEGAN GEIEYEIING DTDTFIVDRY SGDLRVASAL VPSQLIYNLI
1610 1620 1630 1640 1650
VSATDLGPER RKSTTELTII LQGLDGPVFT QPKYITILKE GEPIGTNVIS
1660 1670 1680 1690 1700
IEAASPRGSE APVEYYIVSV RCEEKTVGRL FTIGRHTGII QTAAILDREQ
1710 1720 1730 1740 1750
GACLYLVDVY AIEKSTAFPR TQRAEVEITL QDINDNPPVF PTDMLDLTVE
1760 1770 1780 1790 1800
ENIGDGSKIM QLTAMDADEG ANALVTYTII SGADDSFRID PESGDLIATR
1810 1820 1830 1840 1850
RLDRERRSKY SLLVRADDGL QSSDMRINIT VSDVNDHTPK FSRPVYSFDI
1860 1870 1880 1890 1900
PEDTIPGSLV AAILATDDDS GVNGEITYIV NEDDEDGIFF LNPITGVFNL
1910 1920 1930 1940 1950
TRLLDYEVQQ YYILTVRAED GGGQFTTIRV YFNILDVNDN PPIFSLNSYS
1960 1970 1980 1990 2000
TSLMENLPVG STVLVFNVTD ADDGINSQLT YSIASGDSLG QFTVDKNGVL
2010 2020 2030 2040 2050
KVLKALDRES QSFYNLVVQV HDLPQIPASR FTSTAQVSII LLDVNDNPPT
2060 2070 2080 2090 2100
FLSPKLTYIP ENTPIDTVVF KAQATDPDSG PNSYIEYTLL NPLGNKFSIG
2110 2120 2130 2140 2150
TIDGEVRLTG ELDREEVSNY TLTVVATDKG QPSLSSSTEV VVMVLDINDN
2160 2170 2180 2190 2200
NPIFAQALYK VEINENTLTG TDIIQVFAAD GDEGTNGQVR YGIVNGNTNQ
2210 2220 2230 2240 2250
EFRIDSVTGA ITVAKPLDRE KTPTYHLTVQ ATDRGSTPRT DTSTVSIVLL
2260 2270 2280 2290 2300
DINDFVPVFE LSPYSVNVPE NLGTLPRTIL QVVARDDDRG SNSKLSYVLF
2310 2320 2330 2340 2350
GGNEDNAFTL SASGELGVTQ SLDRETKERF VLMITATDSG SPALTGTGTI
2360 2370 2380 2390 2400
NVIVDDVNDN VPTFASKAYF TTIPEDAPTG TDVLLVNASD ADASKNAVIR
2410 2420 2430 2440 2450
IIGGNSQFTI NPSTGQIITS ALLDRETKDN YTLVVVCSDA GSPEPLSSST
2460 2470 2480 2490 2500
SVLVTVTDVN DNPPRFQHHP YVTHIPSPTL PGSFVFAVTV TDADIGPNSE
2510 2520 2530 2540 2550
LHYSLSGRNS EKFHIDPLRG AIMAAGPLNG ASEVTFSVHV KDGGSFPKTD
2560 2570 2580 2590 2600
STTVTVRFVN KADFPKVRAK EQTFMFPENQ PVSSLVTTIT GSSLRGEPMS
2610 2620 2630 2640 2650
YYIASGNLGN TFQIDQLTGQ VSISQPLDFE KIQKYVVWIE ARDGGFPPFS
2660 2670 2680 2690 2700
SYEKLDITVL DVNDNAPIFK EDPFISEILE NLSPRKILTV SAMDKDSGPN
2710 2720 2730 2740 2750
GQLDYEIVNG NMENSFSINH ATGEIRSVRP LDREKVSHYV LTIKSSDKGS
2760 2770 2780 2790 2800
PSQSTSVKVM INILDENDNA PRFSQIFSAH VPENSPLGYT VTRVTTSDED
2810 2820 2830 2840 2850
IGINAISRYS IMDASLPFTI NPSTGDIVIS RPLNREDTDR YRIRVSAHDS
2860 2870 2880 2890 2900
GWTVSTDVTI FVTDINDNAP RFSRTSYYLD CPELTEIGSK VTQVFATDPD
2910 2920 2930 2940 2950
EGSNGQVFYF IKSQSEYFRI NATTGEIFNK QILKYQNVTG FSNVNINRHS
2960 2970 2980 2990 3000
FIVTSSDRGK PSLISETTVT INIVDSNDNA PQFLKSKYFT PVTKNVKVGT
3010 3020 3030 3040 3050
KLIRVTAIDD KDFGLNSEVE YFISNDNHLG KFKLDNDTGW ISVASSLISD
3060 3070 3080 3090 3100
LNQNFFITVT AKDKGNPPLS SQATVHITVT EENYHTPEFS QSHMSATIPE
3110 3120 3130 3140 3150
SHSIGSIVRT VSARDRDAAM NGLIKYSISS GNEEGIFAIN SSTGILTLAK
3160 3170 3180 3190 3200
ALDYELCQKH EMTISAIDGG WVARTGYCSV TVNVIDVNDN SPVFLSDDYF
3210 3220 3230 3240 3250
PTVLENAPSG TTVIHLNATD ADSGTNAVIA YTVQSSDSDL FVIDPNTGVI
3260 3270 3280 3290 3300
TTQGFLDFET KQSYHLTVKA FNVPDEERCS FATVNIQLKG TNEYVPRFVS
3310 3320 3330 3340 3350
KLYYFEISEA APKGTIVGEV FASDRDLGTD GEVHYLIFGN SRKKGFQINK
3360 3370 3380 3390 3400
KTGQIYVSGI LDREKEERVS LKVLAKNFGS IRGADIDEVT VNVTVLDAND
3410 3420 3430 3440 3450
PPIFTLNIYS VQISEGVPIG THVTFVSAFD SDSIPSWSRF SYFIGSGNEN
3460 3470 3480 3490 3500
GAFSINPQTG QITVTAELDR ETLPIYNLSV LAVDSGTPSA TGSASLLVTL
3510 3520 3530 3540 3550
EDINDNGPML TVSEGEVMEN KRPGTLVMTL QSTDPDLPPN QGPFTYYLLS
3560 3570 3580 3590 3600
TGPATSYFSL STAGVLSTTR EIDREQIADF YLSVVTKDSG VPQMSSTGTV
3610 3620 3630 3640 3650
HITVIDQNDN PSQSRTVEIF VNYYGNLFPG GILGSVKPQD PDVLDSFHCS
3660 3670 3680 3690 3700
LTSGVTSLFS IPGGTCDLNS QPRSTDGTFD LTVLSNDGVH STVTSNIRVF
3710 3720 3730 3740 3750
FAGFSNATVD NSILLRLGVP TVKDFLTNHY LHFLRIASSQ LTGLGTAVQL
3760 3770 3780 3790 3800
YSAYEENNRT FLLAAVKRNH NQYVNPSGVA TFFESIKEIL LRQSGVKVES
3810 3820 3830 3840 3850
VDHDSCVHGP CQNGGSCLRR LAVSSVLKSR ESLPVIIVAN EPLQPFLCKC
3860 3870 3880 3890 3900
LPGYAGSWCE IDIDECLPSP CHSGGTCHNL VGGFSCSCPD GFTGRACERD
3910 3920 3930 3940 3950
INECLQSPCK NGAICQNFPG SFNCVCKTGY TGKMCESSVN YCECNPCFNG
3960 3970 3980 3990 4000
GSCQSGVDSY YCHCPFGVFG KHCELNSYGF EELSYMEFPS LDPNNNYIYV
4010 4020 4030 4040 4050
KFATIKSHAL LLYNYDNQTG DRAEFLALEI AEERLRFSYN LGSGTYKLTT
4060 4070 4080 4090 4100
MKKVSDGHFH TVIARRAGMA ASLTVDSCSE NQEPGYCTVS NVAVSDDWTL
4110 4120 4130 4140 4150
DVQPNRVTVG GIRSLEPILQ RRGHVESHDF VGCIMEFAVN GRPLEPSQAL
4160 4170 4180 4190 4200
AAQGILDQCP RLEGACTRSP CQHGGTCMDY WSWQQCHCKE GLTGKYCEKS
4210 4220 4230 4240 4250
VTPDTALSLE GKGRLDYHMS QNEKREYLLR QSLRGAMLEP FGVNSLEVKF
4260 4270 4280 4290 4300
RTRSENGVLI HIQESSNYTT VKIKNGKVYF TSDAGIAGKV ERNIPEVYVA
4310 4320 4330 4340 4350
DGHWHTFLIG KNGTATVLSV DRIYNRDIIH PTQDFGGLDV LTISLGGIPP
4360 4370 4380 4390 4400
NQAHRDAQTA GFDGCIASMW YGGESLPFSG KHSLASISKT DPSVKIGCRG
4410 4420 4430 4440 4450
PNICASNPCW GDLLCINQWY AYRCVPPGDC ASHPCQNGGS CEPGLHSGFT
4460 4470 4480 4490 4500
CSCPDSHTGR TCEMVVACLG VLCPQGKVCK AGSPAGHVCV LSQGPEEISL
4510 4520 4530 4540 4550
PLWAVPAIVG SCATVLALLV LSLILCNQCR GKKAKNPKEE KKPKEKKKKG
4560 4570 4580 4590 4600
SENVAFDDPD NIPPYGDDMT VRKQPEGNPK PDIIERENPY LIYDETDIPH
4610 4620 4630 4640 4650
NSETIPSAPL ASPEQEIEHY DIDNASSIAP SDADIIQHYK QFRSHTPKFS
4660 4670 4680 4690 4700
IQRHSPLGFA RQSPMPLGAS SLTYQPSYGQ GLRTSSLSHS ACPTPNPLSR
4710 4720 4730 4740 4750
HSPAPFSKSS TFYRNSPARE LHLPIRDGNT LEMHGDTCQP GIFNYATRLG
4760 4770 4780 4790 4800
RRSKSPQAMA SHGSRPGSRL KQPIGQIPLE SSPPVGLSIE EVERLNTPRP
4810 4820 4830 4840 4850
RNPSICSADH GRSSSEEDCR RPLSRTRNPA DGIPAPESSS DSDSHESFTC
4860 4870 4880 4890 4900
SEMEYDREKP MVYTSRMPKL SQVNESDADD EDNYGARLKP RRYHGRRAEG
4910 4920 4930 4940 4950
GPVGTQAAAP GTADNTLPMK LGQQAGTFNW DNLLNWGPGF GHYVDVFKDL
4960 4970 4980
ASLPEKAAAN EEGKAGTTKP VPKDGEAEQY V
Length:4,981
Mass (Da):542,687
Last modified:March 18, 2008 - v2
Checksum:i588ED3CC4612A6DA
GO
Isoform 2 (identifier: Q6V0I7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1702: Missing.
     1703-1725: CLYLVDVYAIEKSTAFPRTQRAE → MVTTVVAVGDTLAQPLAAAEVFI
     3932-3966: Missing.
     4159-4200: CPRLEGACTRSPCQHGGTCMDYWSWQQCHCKEGLTGKYCEKS → YGDFISYCFKEKKCKKVCFT

Show »
Length:3,222
Mass (Da):351,191
Checksum:i7427CC2D7D179FF4
GO
Isoform 3 (identifier: Q6V0I7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4360-4360: Missing.

Note: No experimental confirmation available.
Show »
Length:4,980
Mass (Da):542,616
Checksum:i0CAB0D482A9EF140
GO

Sequence cautioni

The sequence BAB15534 differs from that shown. Reason: Frameshift at position 4848.Curated
The sequence BAB15534 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAF84150 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3363 – 3364RE → QK in BAE45762 (PubMed:12880961).Curated2
Sequence conflicti4868P → S in BAB15534 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048580453Q → L.Corresponds to variant rs6847454dbSNPEnsembl.1
Natural variantiVAR_071948475F → L in HKLLS2. 1 Publication1
Natural variantiVAR_071949486E → Q in HKLLS2. 1 Publication1
Natural variantiVAR_048581807A → V.Corresponds to variant rs1039808dbSNPEnsembl.1
Natural variantiVAR_0709252375E → K in VMLDS2 and HKLLS2. 2 PublicationsCorresponds to variant rs398122955dbSNPEnsembl.1
Natural variantiVAR_0398602826D → N.Corresponds to variant rs12508222dbSNPEnsembl.1
Natural variantiVAR_0398613524G → D.Corresponds to variant rs1567047dbSNPEnsembl.1
Natural variantiVAR_0398623828K → E.Corresponds to variant rs17009684dbSNPEnsembl.1
Natural variantiVAR_0398633873S → N.1 PublicationCorresponds to variant rs12650153dbSNPEnsembl.1
Natural variantiVAR_0709264159C → F in VMLDS2. 1 PublicationCorresponds to variant rs398122953dbSNPEnsembl.1
Natural variantiVAR_0719504282S → F in HKLLS2. 1 PublicationCorresponds to variant rs199682210dbSNPEnsembl.1
Natural variantiVAR_0398644374E → K.Corresponds to variant rs11942361dbSNPEnsembl.1
Natural variantiVAR_0709274398C → Y in VMLDS2. 1 PublicationCorresponds to variant rs398122954dbSNPEnsembl.1
Natural variantiVAR_0398654972P → S.1 PublicationCorresponds to variant rs1014867dbSNPEnsembl.1
Natural variantiVAR_0398664977A → T.Corresponds to variant rs17009858dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0323341 – 1702Missing in isoform 2. 1 PublicationAdd BLAST1702
Alternative sequenceiVSP_0323351703 – 1725CLYLV…TQRAE → MVTTVVAVGDTLAQPLAAAE VFI in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_0323363932 – 3966Missing in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_0323374159 – 4200CPRLE…YCEKS → YGDFISYCFKEKKCKKVCFT in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0323384360Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY356402 mRNA. Translation: AAR13653.1.
AC079835 Genomic DNA. No translation available.
AC092629 Genomic DNA. No translation available.
AC098865 Genomic DNA. No translation available.
AB075518 mRNA. Translation: BAE45762.1.
AK026709 mRNA. Translation: BAB15534.1. Sequence problems.
AK291461 mRNA. Translation: BAF84150.1. Different initiation.
AL713715 mRNA. Translation: CAD28510.1.
CCDSiCCDS3732.3. [Q6V0I7-1]
RefSeqiNP_001278214.1. NM_001291285.1.
NP_001278232.1. NM_001291303.1.
NP_078858.4. NM_024582.4. [Q6V0I7-1]
UniGeneiHs.563205.

Genome annotation databases

EnsembliENST00000335110; ENSP00000335169; ENSG00000196159. [Q6V0I7-2]
ENST00000394329; ENSP00000377862; ENSG00000196159. [Q6V0I7-1]
GeneIDi79633.
KEGGihsa:79633.
UCSCiuc003ifj.5. human. [Q6V0I7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY356402 mRNA. Translation: AAR13653.1.
AC079835 Genomic DNA. No translation available.
AC092629 Genomic DNA. No translation available.
AC098865 Genomic DNA. No translation available.
AB075518 mRNA. Translation: BAE45762.1.
AK026709 mRNA. Translation: BAB15534.1. Sequence problems.
AK291461 mRNA. Translation: BAF84150.1. Different initiation.
AL713715 mRNA. Translation: CAD28510.1.
CCDSiCCDS3732.3. [Q6V0I7-1]
RefSeqiNP_001278214.1. NM_001291285.1.
NP_001278232.1. NM_001291303.1.
NP_078858.4. NM_024582.4. [Q6V0I7-1]
UniGeneiHs.563205.

3D structure databases

ProteinModelPortaliQ6V0I7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122763. 24 interactors.
IntActiQ6V0I7. 2 interactors.
MINTiMINT-2876314.
STRINGi9606.ENSP00000377862.

PTM databases

iPTMnetiQ6V0I7.
PhosphoSitePlusiQ6V0I7.

Polymorphism and mutation databases

BioMutaiFAT4.
DMDMi172046149.

Proteomic databases

EPDiQ6V0I7.
MaxQBiQ6V0I7.
PaxDbiQ6V0I7.
PeptideAtlasiQ6V0I7.
PRIDEiQ6V0I7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335110; ENSP00000335169; ENSG00000196159. [Q6V0I7-2]
ENST00000394329; ENSP00000377862; ENSG00000196159. [Q6V0I7-1]
GeneIDi79633.
KEGGihsa:79633.
UCSCiuc003ifj.5. human. [Q6V0I7-1]

Organism-specific databases

CTDi79633.
DisGeNETi79633.
GeneCardsiFAT4.
H-InvDBHIX0004488.
HGNCiHGNC:23109. FAT4.
HPAiHPA052819.
MalaCardsiFAT4.
MIMi612411. gene.
615546. phenotype.
616006. phenotype.
neXtProtiNX_Q6V0I7.
OpenTargetsiENSG00000196159.
Orphaneti314679. Cerebro-facio-articular syndrome.
2136. Hennekam syndrome.
PharmGKBiPA134954366.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1219. Eukaryota.
KOG3594. Eukaryota.
ENOG410XPEI. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000074162.
HOVERGENiHBG104800.
InParanoidiQ6V0I7.
KOiK16669.
OMAiVYAIEKS.
OrthoDBiEOG091G000B.
PhylomeDBiQ6V0I7.
TreeFamiTF331335.

Enzyme and pathway databases

BioCyciZFISH:G66-32993-MONOMER.

Miscellaneous databases

ChiTaRSiFAT4. human.
GeneWikiiFAT4.
GenomeRNAii79633.
PROiQ6V0I7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196159.
CleanExiHS_FAT4.
GenevisibleiQ6V0I7. HS.

Family and domain databases

Gene3Di2.60.120.200. 3 hits.
2.60.40.60. 34 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00028. Cadherin. 32 hits.
PF07645. EGF_CA. 2 hits.
PF12661. hEGF. 1 hit.
PF02210. Laminin_G_2. 2 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 34 hits.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
SM00282. LamG. 2 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 34 hits.
SSF49899. SSF49899. 2 hits.
SSF57184. SSF57184. 2 hits.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS00232. CADHERIN_1. 23 hits.
PS50268. CADHERIN_2. 34 hits.
PS00022. EGF_1. 7 hits.
PS01186. EGF_2. 3 hits.
PS50026. EGF_3. 6 hits.
PS01187. EGF_CA. 2 hits.
PS50025. LAM_G_DOMAIN. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFAT4_HUMAN
AccessioniPrimary (citable) accession number: Q6V0I7
Secondary accession number(s): A8K5Z6
, B5MDG4, Q3LIA6, Q8TCK7, Q9H5T6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: November 2, 2016
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.