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Q6V0I7

- FAT4_HUMAN

UniProt

Q6V0I7 - FAT4_HUMAN

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Protein

Protocadherin Fat 4

Gene
FAT4, CDHF14, FATJ, Nbla00548
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. protein binding Source: IntAct

GO - Biological processi

  1. cerebral cortex development Source: UniProtKB
  2. heterophilic cell-cell adhesion Source: UniProtKB
  3. hippo signaling Source: UniProtKB
  4. homophilic cell adhesion Source: InterPro
  5. neurogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:23109. FAT4.

Subcellular locationi

Membrane; Single-pass type I membrane protein Reviewed prediction
Note: In the kidney, localizes to primary cilia By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini39 – 45044466Extracellular Reviewed predictionAdd
BLAST
Transmembranei4505 – 452521Helical; Reviewed predictionAdd
BLAST
Topological domaini4526 – 4981456Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2375 – 23751E → K in VMLDS2. 1 Publication
VAR_070925
Natural varianti4159 – 41591C → F in VMLDS2. 1 Publication
VAR_070926
Natural varianti4398 – 43981C → Y in VMLDS2. 1 Publication
VAR_070927

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

MIMi615546. phenotype.
Orphaneti314679. Cerebro-facio-articular syndrome.
PharmGKBiPA134954366.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3838 Reviewed predictionAdd
BLAST
Chaini39 – 49814943Protocadherin Fat 4PRO_0000324637Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi84 – 841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi237 – 2371N-linked (GlcNAc...) Reviewed prediction
Glycosylationi393 – 3931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi416 – 4161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi435 – 4351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi483 – 4831N-linked (GlcNAc...) Reviewed prediction
Glycosylationi551 – 5511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi615 – 6151N-linked (GlcNAc...) Reviewed prediction
Glycosylationi676 – 6761N-linked (GlcNAc...) Reviewed prediction
Glycosylationi721 – 7211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi825 – 8251N-linked (GlcNAc...) Reviewed prediction
Glycosylationi880 – 8801N-linked (GlcNAc...) Reviewed prediction
Glycosylationi946 – 9461N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1085 – 10851N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1101 – 11011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1104 – 11041N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1225 – 12251N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1296 – 12961N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1389 – 13891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1514 – 15141N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1828 – 18281N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1899 – 18991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1967 – 19671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2119 – 21191N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2387 – 23871N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2430 – 24301N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2921 – 29211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2937 – 29371N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3036 – 30361N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3140 – 31401N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3217 – 32171N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3392 – 33921N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3477 – 34771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3706 – 37061N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3758 – 37581N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi3806 ↔ 3817 By similarity
Disulfide bondi3811 ↔ 3848 By similarity
Disulfide bondi3850 ↔ 3859 By similarity
Disulfide bondi3866 ↔ 3877 By similarity
Disulfide bondi3871 ↔ 3886 By similarity
Disulfide bondi3888 ↔ 3897 By similarity
Disulfide bondi3904 ↔ 3915 By similarity
Disulfide bondi3909 ↔ 3924 By similarity
Disulfide bondi3926 ↔ 3935 By similarity
Disulfide bondi3942 ↔ 3953 By similarity
Disulfide bondi3947 ↔ 3962 By similarity
Disulfide bondi3964 ↔ 3973 By similarity
Glycosylationi4017 – 40171N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi4133 ↔ 4159 By similarity
Disulfide bondi4166 ↔ 4177 By similarity
Disulfide bondi4171 ↔ 4186 By similarity
Disulfide bondi4188 ↔ 4197 By similarity
Glycosylationi4267 – 42671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4312 – 43121N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi4365 ↔ 4398 By similarity
Disulfide bondi4430 ↔ 4441 By similarity
Disulfide bondi4435 ↔ 4451 By similarity
Disulfide bondi4453 ↔ 4462 By similarity
Modified residuei4876 – 48761Phosphoserine By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ6V0I7.
PaxDbiQ6V0I7.
PRIDEiQ6V0I7.

PTM databases

PhosphoSiteiQ6V0I7.

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

ArrayExpressiQ6V0I7.
BgeeiQ6V0I7.
CleanExiHS_FAT4.
GenevestigatoriQ6V0I7.

Organism-specific databases

HPAiHPA052819.

Interactioni

Subunit structurei

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

Binary interactionsi

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

Protein-protein interaction databases

BioGridi122763. 2 interactions.
IntActiQ6V0I7. 2 interactions.
MINTiMINT-2876314.
STRINGi9606.ENSP00000377862.

Structurei

3D structure databases

ProteinModelPortaliQ6V0I7.
SMRiQ6V0I7. Positions 47-3671, 3801-4369, 4414-4494.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 13593Cadherin 1Add
BLAST
Domaini136 – 250115Cadherin 2Add
BLAST
Domaini251 – 353103Cadherin 3Add
BLAST
Domaini359 – 475117Cadherin 4Add
BLAST
Domaini476 – 582107Cadherin 5Add
BLAST
Domaini584 – 689106Cadherin 6Add
BLAST
Domaini690 – 793104Cadherin 7Add
BLAST
Domaini794 – 893100Cadherin 8Add
BLAST
Domaini894 – 996103Cadherin 9Add
BLAST
Domaini997 – 1100104Cadherin 10Add
BLAST
Domaini1101 – 1210110Cadherin 11Add
BLAST
Domaini1211 – 1315105Cadherin 12Add
BLAST
Domaini1316 – 1420105Cadherin 13Add
BLAST
Domaini1421 – 1529109Cadherin 14Add
BLAST
Domaini1529 – 1629101Cadherin 15Add
BLAST
Domaini1630 – 1740111Cadherin 16Add
BLAST
Domaini1741 – 1841101Cadherin 17Add
BLAST
Domaini1842 – 1944103Cadherin 18Add
BLAST
Domaini1945 – 2051107Cadherin 19Add
BLAST
Domaini2051 – 2154104Cadherin 20Add
BLAST
Domaini2155 – 2259105Cadherin 21Add
BLAST
Domaini2260 – 2364105Cadherin 22Add
BLAST
Domaini2365 – 2466102Cadherin 23Add
BLAST
Domaini2467 – 2567101Cadherin 24Add
BLAST
Domaini2568 – 2669102Cadherin 25Add
BLAST
Domaini2670 – 2773104Cadherin 26Add
BLAST
Domaini2773 – 2872100Cadherin 27Add
BLAST
Domaini2873 – 2983111Cadherin 28Add
BLAST
Domaini2984 – 3089106Cadherin 29Add
BLAST
Domaini3090 – 3194105Cadherin 30Add
BLAST
Domaini3195 – 3298104Cadherin 31Add
BLAST
Domaini3299 – 3404106Cadherin 32Add
BLAST
Domaini3405 – 3510106Cadherin 33Add
BLAST
Domaini3509 – 3620112Cadherin 34Add
BLAST
Domaini3802 – 386059EGF-like 1Add
BLAST
Domaini3862 – 389837EGF-like 2; calcium-binding Reviewed predictionAdd
BLAST
Domaini3900 – 393637EGF-like 3; calcium-binding Reviewed predictionAdd
BLAST
Domaini3938 – 397437EGF-like 4Add
BLAST
Domaini3975 – 4159185Laminin G-like 1Add
BLAST
Domaini4162 – 419837EGF-like 5Add
BLAST
Domaini4217 – 4398182Laminin G-like 2Add
BLAST
Domaini4426 – 446338EGF-like 6Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni4706 – 479590Necessary and sufficient for interaction with MPDZ By similarityAdd
BLAST

Sequence similaritiesi

Contains 34 cadherin domains.
Contains 6 EGF-like domains.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000074162.
HOVERGENiHBG104800.
InParanoidiQ6V0I7.
KOiK16669.
OMAiIIQQMPR.
OrthoDBiEOG75TM9Z.
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.
IPR008985. ConA-like_lec_gl_sf.
IPR013320. ConA-like_subgrp.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00028. Cadherin. 32 hits.
PF07645. EGF_CA. 2 hits.
PF02210. Laminin_G_2. 2 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 34 hits.
SM00181. EGF. 4 hits.
SM00179. EGF_CA. 2 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. Align

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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MDLAPDRATG RPWLPLHTLS VSQLLRVFWL LSLLPGQAWV HGAEPRQVFQ     50
VLEEQPPGTL VGTIQTRPGF TYRLSESHAL FAINSSTGAL YTTSTIDRES 100
LPSDVINLVV LSSAPTYPTE VRVLVRDLND NAPVFPDPSI VVTFKEDSSS 150
GRQVILDTAT DSDIGSNGVD HRSYRIIRGN EAGRFRLDIT LNPSGEGAFL 200
HLVSKGGLDR EVTPQYQLLV EVEDKGEPKR RGYLQVNVTV QDINDNPPVF 250
GSSHYQAGVP EDAVVGSSVL QVAAADADEG TNADIRYRLQ DEGTPFQMDP 300
ETGLITVREP LDFEARRQYS LTVQAMDRGV PSLTGRAEAL IQLLDVNDND 350
PVVKFRYFPA TSRYASVDEN AQVGTVVALL TVTDADSPAA NGNISVQILG 400
GNEQRHFEVQ SSKVPNLSLI KVASALDRER IPSYNLTVSV SDNYGAPPGA 450
AVQARSSVAS LVIFVNDIND HPPVFSQQVY RVNLSEEAPP GSYVSGISAT 500
DGDSGLNANL RYSIVSGNGL GWFHISEHSG LVTTGSSGGL DRELASQIVL 550
NISARDQGVH PKVSYAQLVV TLLDVNDEKP VFSQPEGYDV SVVENAPTGT 600
ELLMLRATDG DLGDNGTVRF SLQEAETDRR SFRLDPVSGR LSTISSLDRE 650
EQAFYSLLVL ATDLGSPPQS SMARINVSLL DINDNSPVFY PVQYFAHIKE 700
NEPGGSYITT VSATDPDLGT NGTVKYSISA GDRSRFQVNA QSGVISTRMA 750
LDREEKTAYQ LQIVATDGGN LQSPNQAIVT ITVLDTQDNP PVFSQVAYSF 800
VVFENVALGY HVGSVSASTM DLNSNISYLI TTGDQKGMFA INQVTGQLTT 850
ANVIDREEQS FYQLKVVASG GTVTGDTMVN ITVKDLNDNS PHFLQAIESV 900
NVVENWQAGH SIFQAKAVDP DEGVNGMVLY SLKQNPKNLF AINEKNGTIS 950
LLGPLDVHAG SYQIEILASD MGVPQLSSSV ILTVYVHDVN DNSPVFDQLS 1000
YEVTLSESEP VNSRFFKVQA SDKDSGANGE IAYTIAEGNT GDAFGIFPDG 1050
QLYIKSELDR ELQDRYVLMV VASDRAVEPL SATVNVTVIL EDVNDNRPLF 1100
NSTNYTFYFE EEQRAGSFVG KVSAVDKDFG PNGEVRYSFE MVQPDFELHA 1150
ISGEITNTHQ FDRESLMRRR GTAVFSFTVI ATDQGIPQPL KDQATVHVYM 1200
KDINDNAPKF LKDFYQATIS ESAANLTQVL RVSASDVDEG NNGLIHYSII 1250
KGNEERQFAI DSTSGQVTLI GKLDYEATPA YSLVIQAVDS GTIPLNSTCT 1300
LNIDILDEND NTPSFPKSTL FVDVLENMRI GELVSSVTAT DSDSGDNADL 1350
YYSITGTNNH GTFSISPNTG SIFLAKKLDF ETQSLYKLNI TAKDQGRPPR 1400
SSTMSVVIHV RDFNDNPPSF PPGDIFKSIV ENIPIGTSVI SVTAHDPDAD 1450
INGQLSYTII QQMPRGNHFT IDEVKGTIYT NAEIDREFAN LFELTVKAND 1500
QAVPIETRRY ALKNVTILVT DLNDNVPMFI SQNALAADPS AVIGSVLTTI 1550
MAADPDEGAN GEIEYEIING DTDTFIVDRY SGDLRVASAL VPSQLIYNLI 1600
VSATDLGPER RKSTTELTII LQGLDGPVFT QPKYITILKE GEPIGTNVIS 1650
IEAASPRGSE APVEYYIVSV RCEEKTVGRL FTIGRHTGII QTAAILDREQ 1700
GACLYLVDVY AIEKSTAFPR TQRAEVEITL QDINDNPPVF PTDMLDLTVE 1750
ENIGDGSKIM QLTAMDADEG ANALVTYTII SGADDSFRID PESGDLIATR 1800
RLDRERRSKY SLLVRADDGL QSSDMRINIT VSDVNDHTPK FSRPVYSFDI 1850
PEDTIPGSLV AAILATDDDS GVNGEITYIV NEDDEDGIFF LNPITGVFNL 1900
TRLLDYEVQQ YYILTVRAED GGGQFTTIRV YFNILDVNDN PPIFSLNSYS 1950
TSLMENLPVG STVLVFNVTD ADDGINSQLT YSIASGDSLG QFTVDKNGVL 2000
KVLKALDRES QSFYNLVVQV HDLPQIPASR FTSTAQVSII LLDVNDNPPT 2050
FLSPKLTYIP ENTPIDTVVF KAQATDPDSG PNSYIEYTLL NPLGNKFSIG 2100
TIDGEVRLTG ELDREEVSNY TLTVVATDKG QPSLSSSTEV VVMVLDINDN 2150
NPIFAQALYK VEINENTLTG TDIIQVFAAD GDEGTNGQVR YGIVNGNTNQ 2200
EFRIDSVTGA ITVAKPLDRE KTPTYHLTVQ ATDRGSTPRT DTSTVSIVLL 2250
DINDFVPVFE LSPYSVNVPE NLGTLPRTIL QVVARDDDRG SNSKLSYVLF 2300
GGNEDNAFTL SASGELGVTQ SLDRETKERF VLMITATDSG SPALTGTGTI 2350
NVIVDDVNDN VPTFASKAYF TTIPEDAPTG TDVLLVNASD ADASKNAVIR 2400
IIGGNSQFTI NPSTGQIITS ALLDRETKDN YTLVVVCSDA GSPEPLSSST 2450
SVLVTVTDVN DNPPRFQHHP YVTHIPSPTL PGSFVFAVTV TDADIGPNSE 2500
LHYSLSGRNS EKFHIDPLRG AIMAAGPLNG ASEVTFSVHV KDGGSFPKTD 2550
STTVTVRFVN KADFPKVRAK EQTFMFPENQ PVSSLVTTIT GSSLRGEPMS 2600
YYIASGNLGN TFQIDQLTGQ VSISQPLDFE KIQKYVVWIE ARDGGFPPFS 2650
SYEKLDITVL DVNDNAPIFK EDPFISEILE NLSPRKILTV SAMDKDSGPN 2700
GQLDYEIVNG NMENSFSINH ATGEIRSVRP LDREKVSHYV LTIKSSDKGS 2750
PSQSTSVKVM INILDENDNA PRFSQIFSAH VPENSPLGYT VTRVTTSDED 2800
IGINAISRYS IMDASLPFTI NPSTGDIVIS RPLNREDTDR YRIRVSAHDS 2850
GWTVSTDVTI FVTDINDNAP RFSRTSYYLD CPELTEIGSK VTQVFATDPD 2900
EGSNGQVFYF IKSQSEYFRI NATTGEIFNK QILKYQNVTG FSNVNINRHS 2950
FIVTSSDRGK PSLISETTVT INIVDSNDNA PQFLKSKYFT PVTKNVKVGT 3000
KLIRVTAIDD KDFGLNSEVE YFISNDNHLG KFKLDNDTGW ISVASSLISD 3050
LNQNFFITVT AKDKGNPPLS SQATVHITVT EENYHTPEFS QSHMSATIPE 3100
SHSIGSIVRT VSARDRDAAM NGLIKYSISS GNEEGIFAIN SSTGILTLAK 3150
ALDYELCQKH EMTISAIDGG WVARTGYCSV TVNVIDVNDN SPVFLSDDYF 3200
PTVLENAPSG TTVIHLNATD ADSGTNAVIA YTVQSSDSDL FVIDPNTGVI 3250
TTQGFLDFET KQSYHLTVKA FNVPDEERCS FATVNIQLKG TNEYVPRFVS 3300
KLYYFEISEA APKGTIVGEV FASDRDLGTD GEVHYLIFGN SRKKGFQINK 3350
KTGQIYVSGI LDREKEERVS LKVLAKNFGS IRGADIDEVT VNVTVLDAND 3400
PPIFTLNIYS VQISEGVPIG THVTFVSAFD SDSIPSWSRF SYFIGSGNEN 3450
GAFSINPQTG QITVTAELDR ETLPIYNLSV LAVDSGTPSA TGSASLLVTL 3500
EDINDNGPML TVSEGEVMEN KRPGTLVMTL QSTDPDLPPN QGPFTYYLLS 3550
TGPATSYFSL STAGVLSTTR EIDREQIADF YLSVVTKDSG VPQMSSTGTV 3600
HITVIDQNDN PSQSRTVEIF VNYYGNLFPG GILGSVKPQD PDVLDSFHCS 3650
LTSGVTSLFS IPGGTCDLNS QPRSTDGTFD LTVLSNDGVH STVTSNIRVF 3700
FAGFSNATVD NSILLRLGVP TVKDFLTNHY LHFLRIASSQ LTGLGTAVQL 3750
YSAYEENNRT FLLAAVKRNH NQYVNPSGVA TFFESIKEIL LRQSGVKVES 3800
VDHDSCVHGP CQNGGSCLRR LAVSSVLKSR ESLPVIIVAN EPLQPFLCKC 3850
LPGYAGSWCE IDIDECLPSP CHSGGTCHNL VGGFSCSCPD GFTGRACERD 3900
INECLQSPCK NGAICQNFPG SFNCVCKTGY TGKMCESSVN YCECNPCFNG 3950
GSCQSGVDSY YCHCPFGVFG KHCELNSYGF EELSYMEFPS LDPNNNYIYV 4000
KFATIKSHAL LLYNYDNQTG DRAEFLALEI AEERLRFSYN LGSGTYKLTT 4050
MKKVSDGHFH TVIARRAGMA ASLTVDSCSE NQEPGYCTVS NVAVSDDWTL 4100
DVQPNRVTVG GIRSLEPILQ RRGHVESHDF VGCIMEFAVN GRPLEPSQAL 4150
AAQGILDQCP RLEGACTRSP CQHGGTCMDY WSWQQCHCKE GLTGKYCEKS 4200
VTPDTALSLE GKGRLDYHMS QNEKREYLLR QSLRGAMLEP FGVNSLEVKF 4250
RTRSENGVLI HIQESSNYTT VKIKNGKVYF TSDAGIAGKV ERNIPEVYVA 4300
DGHWHTFLIG KNGTATVLSV DRIYNRDIIH PTQDFGGLDV LTISLGGIPP 4350
NQAHRDAQTA GFDGCIASMW YGGESLPFSG KHSLASISKT DPSVKIGCRG 4400
PNICASNPCW GDLLCINQWY AYRCVPPGDC ASHPCQNGGS CEPGLHSGFT 4450
CSCPDSHTGR TCEMVVACLG VLCPQGKVCK AGSPAGHVCV LSQGPEEISL 4500
PLWAVPAIVG SCATVLALLV LSLILCNQCR GKKAKNPKEE KKPKEKKKKG 4550
SENVAFDDPD NIPPYGDDMT VRKQPEGNPK PDIIERENPY LIYDETDIPH 4600
NSETIPSAPL ASPEQEIEHY DIDNASSIAP SDADIIQHYK QFRSHTPKFS 4650
IQRHSPLGFA RQSPMPLGAS SLTYQPSYGQ GLRTSSLSHS ACPTPNPLSR 4700
HSPAPFSKSS TFYRNSPARE LHLPIRDGNT LEMHGDTCQP GIFNYATRLG 4750
RRSKSPQAMA SHGSRPGSRL KQPIGQIPLE SSPPVGLSIE EVERLNTPRP 4800
RNPSICSADH GRSSSEEDCR RPLSRTRNPA DGIPAPESSS DSDSHESFTC 4850
SEMEYDREKP MVYTSRMPKL SQVNESDADD EDNYGARLKP RRYHGRRAEG 4900
GPVGTQAAAP GTADNTLPMK LGQQAGTFNW DNLLNWGPGF GHYVDVFKDL 4950
ASLPEKAAAN EEGKAGTTKP VPKDGEAEQY V 4981
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.

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Length:4,980
Mass (Da):542,616
Checksum:i0CAB0D482A9EF140
GO

Sequence cautioni

The sequence BAB15534.1 differs from that shown. Reason: Frameshift at position 4848.
The sequence BAB15534.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAF84150.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti453 – 4531Q → L.
Corresponds to variant rs6847454 [ dbSNP | Ensembl ].
VAR_048580
Natural varianti807 – 8071A → V.
Corresponds to variant rs1039808 [ dbSNP | Ensembl ].
VAR_048581
Natural varianti2375 – 23751E → K in VMLDS2. 1 Publication
VAR_070925
Natural varianti2826 – 28261D → N.
Corresponds to variant rs12508222 [ dbSNP | Ensembl ].
VAR_039860
Natural varianti3524 – 35241G → D.
Corresponds to variant rs1567047 [ dbSNP | Ensembl ].
VAR_039861
Natural varianti3828 – 38281K → E.
Corresponds to variant rs17009684 [ dbSNP | Ensembl ].
VAR_039862
Natural varianti3873 – 38731S → N.1 Publication
Corresponds to variant rs12650153 [ dbSNP | Ensembl ].
VAR_039863
Natural varianti4159 – 41591C → F in VMLDS2. 1 Publication
VAR_070926
Natural varianti4374 – 43741E → K.
Corresponds to variant rs11942361 [ dbSNP | Ensembl ].
VAR_039864
Natural varianti4398 – 43981C → Y in VMLDS2. 1 Publication
VAR_070927
Natural varianti4972 – 49721P → S.1 Publication
Corresponds to variant rs1014867 [ dbSNP | Ensembl ].
VAR_039865
Natural varianti4977 – 49771A → T.
Corresponds to variant rs17009858 [ dbSNP | Ensembl ].
VAR_039866

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 17021702Missing in isoform 2. VSP_032334Add
BLAST
Alternative sequencei1703 – 172523CLYLV…TQRAE → MVTTVVAVGDTLAQPLAAAE VFI in isoform 2. VSP_032335Add
BLAST
Alternative sequencei3932 – 396635Missing in isoform 2. VSP_032336Add
BLAST
Alternative sequencei4159 – 420042CPRLE…YCEKS → YGDFISYCFKEKKCKKVCFT in isoform 2. VSP_032337Add
BLAST
Alternative sequencei4360 – 43601Missing in isoform 3. VSP_032338

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti3363 – 33642RE → QK in BAE45762. 1 Publication
Sequence conflicti4868 – 48681P → S in BAB15534. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc003ifi.1. human. [Q6V0I7-2]
uc003ifj.4. human. [Q6V0I7-1]

Polymorphism databases

DMDMi172046149.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3732.3. [Q6V0I7-1 ]
RefSeqi NP_001278214.1. NM_001291285.1.
NP_001278232.1. NM_001291303.1.
NP_078858.4. NM_024582.4. [Q6V0I7-1 ]
UniGenei Hs.563205.

3D structure databases

ProteinModelPortali Q6V0I7.
SMRi Q6V0I7. Positions 47-3671, 3801-4369, 4414-4494.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122763. 2 interactions.
IntActi Q6V0I7. 2 interactions.
MINTi MINT-2876314.
STRINGi 9606.ENSP00000377862.

PTM databases

PhosphoSitei Q6V0I7.

Polymorphism databases

DMDMi 172046149.

Proteomic databases

MaxQBi Q6V0I7.
PaxDbi Q6V0I7.
PRIDEi Q6V0I7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000335110 ; ENSP00000335169 ; ENSG00000196159 . [Q6V0I7-2 ]
ENST00000394329 ; ENSP00000377862 ; ENSG00000196159 . [Q6V0I7-1 ]
GeneIDi 79633.
KEGGi hsa:79633.
UCSCi uc003ifi.1. human. [Q6V0I7-2 ]
uc003ifj.4. human. [Q6V0I7-1 ]

Organism-specific databases

CTDi 79633.
GeneCardsi GC04P126237.
H-InvDB HIX0004488.
HGNCi HGNC:23109. FAT4.
HPAi HPA052819.
MIMi 612411. gene.
615546. phenotype.
neXtProti NX_Q6V0I7.
Orphaneti 314679. Cerebro-facio-articular syndrome.
PharmGKBi PA134954366.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000074162.
HOVERGENi HBG104800.
InParanoidi Q6V0I7.
KOi K16669.
OMAi IIQQMPR.
OrthoDBi EOG75TM9Z.
PhylomeDBi Q6V0I7.
TreeFami TF331335.

Miscellaneous databases

ChiTaRSi FAT4. human.
GeneWikii FAT4.
GenomeRNAii 79633.
NextBioi 68741.
PROi Q6V0I7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q6V0I7.
Bgeei Q6V0I7.
CleanExi HS_FAT4.
Genevestigatori Q6V0I7.

Family and domain databases

Gene3Di 2.60.120.200. 3 hits.
2.60.40.60. 34 hits.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR008985. ConA-like_lec_gl_sf.
IPR013320. ConA-like_subgrp.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001791. Laminin_G.
[Graphical view ]
Pfami PF00028. Cadherin. 32 hits.
PF07645. EGF_CA. 2 hits.
PF02210. Laminin_G_2. 2 hits.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 34 hits.
SM00181. EGF. 4 hits.
SM00179. EGF_CA. 2 hits.
SM00282. LamG. 2 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 34 hits.
SSF49899. SSF49899. 2 hits.
SSF57184. SSF57184. 2 hits.
PROSITEi PS00010. 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of new human cadherin genes using a combination of protein motif search and gene finding methods."
    Hoeng J.C., Ivanov N.V., Hodor P., Xia M., Wei N., Blevins R., Gerhold D., Borodovsky M., Liu Y.
    J. Mol. Biol. 337:307-317(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
    Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
    Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2709-3364 (ISOFORM 1).
    Tissue: Neuroblastoma.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3819-4981 (ISOFORM 3), VARIANTS ASN-3873 AND SER-4972.
    Tissue: Brain.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4859-4981.
    Tissue: Lymph node.
  6. "Comparative integromics on FAT1, FAT2, FAT3 and FAT4."
    Katoh Y., Katoh M.
    Int. J. Mol. Med. 18:523-528(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
  7. Cited for: DEVELOPMENTAL STAGE, VARIANTS VMLDS2 LYS-2375; PHE-4159 AND TYR-4398.

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: September 3, 2014
This is version 108 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

External Data

Dasty 3

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