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Q6V0I7

- FAT4_HUMAN

UniProt

Q6V0I7 - FAT4_HUMAN

Protein

Protocadherin Fat 4

Gene

FAT4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (18 Mar 2008)
      Previous versions | rss
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    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

    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

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

    GO - Cellular componenti

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 3838Sequence AnalysisAdd
    BLAST
    Chaini39 – 49814943Protocadherin Fat 4PRO_0000324637Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi84 – 841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi237 – 2371N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi393 – 3931N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi416 – 4161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi435 – 4351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi483 – 4831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi551 – 5511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi615 – 6151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi676 – 6761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi721 – 7211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi825 – 8251N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi880 – 8801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi946 – 9461N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1085 – 10851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1101 – 11011N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1104 – 11041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1225 – 12251N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1296 – 12961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1389 – 13891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1514 – 15141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1828 – 18281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1899 – 18991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1967 – 19671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2119 – 21191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2387 – 23871N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2430 – 24301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2921 – 29211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2937 – 29371N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3036 – 30361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3140 – 31401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3217 – 32171N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3392 – 33921N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3477 – 34771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3706 – 37061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3758 – 37581N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi4017 – 40171N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi4133 ↔ 4159By similarity
    Disulfide bondi4166 ↔ 4177By similarity
    Disulfide bondi4171 ↔ 4186By similarity
    Disulfide bondi4188 ↔ 4197By similarity
    Glycosylationi4267 – 42671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi4312 – 43121N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi4365 ↔ 4398By similarity
    Disulfide bondi4430 ↔ 4441By similarity
    Disulfide bondi4435 ↔ 4451By similarity
    Disulfide bondi4453 ↔ 4462By similarity
    Modified residuei4876 – 48761PhosphoserineBy 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. 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. 2 interactions.
    IntActiQ6V0I7. 2 interactions.
    MINTiMINT-2876314.
    STRINGi9606.ENSP00000377862.

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini39 – 45044466ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini4526 – 4981456CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4505 – 452521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Region

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

    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

    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.

    Show »
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti3363 – 33642RE → QK in BAE45762. (PubMed:12880961)Curated
    Sequence conflicti4868 – 48681P → S in BAB15534. (PubMed:14702039)Curated

    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. 1 PublicationVSP_032334Add
    BLAST
    Alternative sequencei1703 – 172523CLYLV…TQRAE → MVTTVVAVGDTLAQPLAAAE VFI in isoform 2. 1 PublicationVSP_032335Add
    BLAST
    Alternative sequencei3932 – 396635Missing in isoform 2. 1 PublicationVSP_032336Add
    BLAST
    Alternative sequencei4159 – 420042CPRLE…YCEKS → YGDFISYCFKEKKCKKVCFT in isoform 2. 1 PublicationVSP_032337Add
    BLAST
    Alternative sequencei4360 – 43601Missing in isoform 3. 1 PublicationVSP_032338

    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

    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: October 1, 2014
    This is version 109 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