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Q9ULV1

- FZD4_HUMAN

UniProt

Q9ULV1 - FZD4_HUMAN

Protein

Frizzled-4

Gene

FZD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (29 Mar 2005)
      Previous versions | rss
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    Functioni

    Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.

    GO - Molecular functioni

    1. cytokine binding Source: BHF-UCL
    2. G-protein coupled receptor activity Source: UniProtKB-KW
    3. PDZ domain binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. protein heterodimerization activity Source: BHF-UCL
    6. protein homodimerization activity Source: BHF-UCL
    7. ubiquitin protein ligase binding Source: UniProtKB
    8. Wnt-activated receptor activity Source: BHF-UCL
    9. Wnt-protein binding Source: RefGenome

    GO - Biological processi

    1. brain development Source: RefGenome
    2. canonical Wnt signaling pathway Source: UniProtKB
    3. cellular response to retinoic acid Source: UniProtKB
    4. cerebellum vasculature morphogenesis Source: Ensembl
    5. extracellular matrix-cell signaling Source: Ensembl
    6. locomotion involved in locomotory behavior Source: Ensembl
    7. negative regulation of cell-substrate adhesion Source: BHF-UCL
    8. neuron differentiation Source: UniProtKB
    9. positive regulation of JUN kinase activity Source: Ensembl
    10. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    11. positive regulation of transcription, DNA-templated Source: BHF-UCL
    12. progesterone secretion Source: RefGenome
    13. regulation of vascular endothelial growth factor receptor signaling pathway Source: RefGenome
    14. retinal blood vessel morphogenesis Source: Ensembl
    15. retina vasculature morphogenesis in camera-type eye Source: BHF-UCL
    16. sensory perception of sound Source: Ensembl
    17. substrate adhesion-dependent cell spreading Source: RefGenome
    18. vasculogenesis Source: RefGenome
    19. Wnt signaling pathway Source: BHF-UCL
    20. Wnt signaling pathway, calcium modulating pathway Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein, G-protein coupled receptor, Receptor, Transducer

    Keywords - Biological processi

    Wnt signaling pathway

    Enzyme and pathway databases

    ReactomeiREACT_172599. WNT5A-dependent internalization of FZD4.
    REACT_172761. Ca2+ pathway.
    REACT_18372. Class B/2 (Secretin family receptors).
    REACT_200716. regulation of FZD by ubiquitination.
    SignaLinkiQ9ULV1.

    Protein family/group databases

    MEROPSiI93.001.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Frizzled-4
    Short name:
    Fz-4
    Short name:
    hFz4
    Alternative name(s):
    FzE4
    CD_antigen: CD344
    Gene namesi
    Name:FZD4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:4042. FZD4.

    Subcellular locationi

    GO - Cellular componenti

    1. cell-cell junction Source: Ensembl
    2. cell projection Source: RefGenome
    3. cell surface Source: BHF-UCL
    4. clathrin-coated endocytic vesicle membrane Source: Reactome
    5. cytoplasm Source: RefGenome
    6. extracellular vesicular exosome Source: UniProt
    7. integral component of plasma membrane Source: BHF-UCL
    8. plasma membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.12 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331P → S in EVR1. 3 Publications
    Corresponds to variant rs61735304 [ dbSNP | Ensembl ].
    VAR_063920
    Natural varianti36 – 361G → D in EVR1. 1 Publication
    VAR_063921
    Natural varianti40 – 401E → Q in EVR1. 1 Publication
    VAR_063922
    Natural varianti69 – 691H → Y in EVR1; minor reduction of its wild-type activity. 3 Publications
    Corresponds to variant rs80358282 [ dbSNP | Ensembl ].
    VAR_063923
    Natural varianti105 – 1051M → T in EVR1. 1 Publication
    VAR_063924
    Natural varianti105 – 1051M → V in EVR1; loss of function. 3 Publications
    VAR_038947
    Natural varianti114 – 1141I → T in EVR1. 1 Publication
    VAR_063925
    Natural varianti157 – 1571M → V in EVR1; loss of function. 2 Publications
    VAR_038948
    Natural varianti181 – 1811C → R in EVR1. 1 Publication
    VAR_063927
    Natural varianti204 – 2041C → R in EVR1. 1 Publication
    VAR_063929
    Natural varianti204 – 2041C → Y in EVR1. 1 Publication
    VAR_063930
    Natural varianti223 – 2231M → K in EVR1. 1 Publication
    VAR_063931
    Natural varianti256 – 2561I → V in EVR1. 1 Publication
    VAR_063932
    Natural varianti335 – 3351W → C in EVR1. 1 Publication
    VAR_063933
    Natural varianti342 – 3421M → V in EVR1. 2 Publications
    VAR_063934
    Natural varianti417 – 4171R → Q in EVR1; 48% loss of its wild-type activity; associated in a EVR4 patient with mutation CYS-444 in LPR5. 2 Publications
    VAR_063936
    Natural varianti445 – 4451T → P in EVR1. 1 Publication
    VAR_063937
    Natural varianti488 – 4881G → D in EVR1. 2 Publications
    VAR_063938
    Natural varianti493 – 4942Missing in EVR1; loss of function. 1 Publication
    VAR_017777
    Natural varianti497 – 4971S → F in EVR1. 1 Publication
    VAR_063939
    Natural varianti525 – 5251G → R in EVR1. 1 Publication
    VAR_063940

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi133780. phenotype.
    Orphaneti891. Familial exudative vitreoretinopathy.
    91495. Persistent hyperplastic primary vitreous.
    90050. Retinopathy of prematurity.
    PharmGKBiPA28459.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3636Sequence AnalysisAdd
    BLAST
    Chaini37 – 537501Frizzled-4PRO_0000012985Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi45 ↔ 106PROSITE-ProRule annotation
    Disulfide bondi53 ↔ 99PROSITE-ProRule annotation
    Glycosylationi59 – 591N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi90 ↔ 128PROSITE-ProRule annotation
    Disulfide bondi117 ↔ 158PROSITE-ProRule annotation
    Disulfide bondi121 ↔ 145PROSITE-ProRule annotation
    Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ9ULV1.
    PaxDbiQ9ULV1.
    PRIDEiQ9ULV1.

    PTM databases

    PhosphoSiteiQ9ULV1.

    Expressioni

    Tissue specificityi

    Almost ubiquitous. Largely expressed in adult heart, skeletal muscle, ovary, and fetal kidney. Moderate amounts in adult liver, kidney, pancreas, spleen, and fetal lung, and small amounts in placenta, adult lung, prostate, testis, colon, fetal brain and liver.

    Gene expression databases

    ArrayExpressiQ9ULV1.
    BgeeiQ9ULV1.
    CleanExiHS_FZD4.
    GenevestigatoriQ9ULV1.

    Organism-specific databases

    HPAiHPA042328.

    Interactioni

    Subunit structurei

    Interacts with MAGI3 and norrin (NDP). Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    I79_000956G3GTH22EBI-2466380,EBI-3504975From a different organism.
    NDPQ006044EBI-2466380,EBI-2466352

    Protein-protein interaction databases

    BioGridi113918. 6 interactions.
    IntActiQ9ULV1. 7 interactions.
    MINTiMINT-2822299.
    STRINGi9606.ENSP00000311581.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9ULV1.
    SMRiQ9ULV1. Positions 45-149, 193-511.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini37 – 222186ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini244 – 25411CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini276 – 30227ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini324 – 34421CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini366 – 38924ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini411 – 43626CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini458 – 47720ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini499 – 53739CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei223 – 24321Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei255 – 27521Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei345 – 36521Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei390 – 41021Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei437 – 45721Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei478 – 49821Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 161122FZPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi499 – 5046Lys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family membersBy similarity
    Motifi535 – 5373PDZ-binding

    Domaini

    Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.By similarity
    The FZ domain is involved in binding with Wnt ligands.By similarity

    Sequence similaritiesi

    Contains 1 FZ (frizzled) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG284049.
    HOGENOMiHOG000233236.
    HOVERGENiHBG006977.
    InParanoidiQ9ULV1.
    KOiK02354.
    OMAiSMCLSVK.
    OrthoDBiEOG7M3J01.
    PhylomeDBiQ9ULV1.
    TreeFamiTF317907.

    Family and domain databases

    Gene3Di1.10.2000.10. 1 hit.
    InterProiIPR000539. Frizzled.
    IPR015526. Frizzled/SFRP.
    IPR020067. Frizzled_dom.
    IPR026551. FZD4.
    IPR017981. GPCR_2-like.
    [Graphical view]
    PANTHERiPTHR11309. PTHR11309. 1 hit.
    PTHR11309:SF23. PTHR11309:SF23. 1 hit.
    PfamiPF01534. Frizzled. 1 hit.
    PF01392. Fz. 1 hit.
    [Graphical view]
    PRINTSiPR00489. FRIZZLED.
    SMARTiSM00063. FRI. 1 hit.
    [Graphical view]
    SUPFAMiSSF63501. SSF63501. 1 hit.
    PROSITEiPS50038. FZ. 1 hit.
    PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9ULV1-1 [UniParc]FASTAAdd to Basket

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    MAWRGAGPSV PGAPGGVGLS LGLLLQLLLL LGPARGFGDE EERRCDPIRI    50
    SMCQNLGYNV TKMPNLVGHE LQTDAELQLT TFTPLIQYGC SSQLQFFLCS 100
    VYVPMCTEKI NIPIGPCGGM CLSVKRRCEP VLKEFGFAWP ESLNCSKFPP 150
    QNDHNHMCME GPGDEEVPLP HKTPIQPGEE CHSVGTNSDQ YIWVKRSLNC 200
    VLKCGYDAGL YSRSAKEFTD IWMAVWASLC FISTAFTVLT FLIDSSRFSY 250
    PERPIIFLSM CYNIYSIAYI VRLTVGRERI SCDFEEAAEP VLIQEGLKNT 300
    GCAIIFLLMY FFGMASSIWW VILTLTWFLA AGLKWGHEAI EMHSSYFHIA 350
    AWAIPAVKTI VILIMRLVDA DELTGLCYVG NQNLDALTGF VVAPLFTYLV 400
    IGTLFIAAGL VALFKIRSNL QKDGTKTDKL ERLMVKIGVF SVLYTVPATC 450
    VIACYFYEIS NWALFRYSAD DSNMAVEMLK IFMSLLVGIT SGMWIWSAKT 500
    LHTWQKCSNR LVNSGKVKRE KRGNGWVKPG KGSETVV 537
    Length:537
    Mass (Da):59,881
    Last modified:March 29, 2005 - v2
    Checksum:iE0A83ECEC560A381
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti481 – 4811I → T in BAA86286. (PubMed:10544037)Curated
    Sequence conflicti500 – 5001T → S in BAA86286. (PubMed:10544037)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331P → S in EVR1. 3 Publications
    Corresponds to variant rs61735304 [ dbSNP | Ensembl ].
    VAR_063920
    Natural varianti36 – 361G → D in EVR1. 1 Publication
    VAR_063921
    Natural varianti40 – 401E → Q in EVR1. 1 Publication
    VAR_063922
    Natural varianti69 – 691H → Y in EVR1; minor reduction of its wild-type activity. 3 Publications
    Corresponds to variant rs80358282 [ dbSNP | Ensembl ].
    VAR_063923
    Natural varianti105 – 1051M → T in EVR1. 1 Publication
    VAR_063924
    Natural varianti105 – 1051M → V in EVR1; loss of function. 3 Publications
    VAR_038947
    Natural varianti114 – 1141I → T in EVR1. 1 Publication
    VAR_063925
    Natural varianti157 – 1571M → V in EVR1; loss of function. 2 Publications
    VAR_038948
    Natural varianti168 – 1681P → S.3 Publications
    Corresponds to variant rs61735303 [ dbSNP | Ensembl ].
    VAR_063926
    Natural varianti181 – 1811C → R in EVR1. 1 Publication
    VAR_063927
    Natural varianti203 – 2031K → N in retinopathy of prematurity. 1 Publication
    VAR_063928
    Natural varianti204 – 2041C → R in EVR1. 1 Publication
    VAR_063929
    Natural varianti204 – 2041C → Y in EVR1. 1 Publication
    VAR_063930
    Natural varianti223 – 2231M → K in EVR1. 1 Publication
    VAR_063931
    Natural varianti256 – 2561I → V in EVR1. 1 Publication
    VAR_063932
    Natural varianti335 – 3351W → C in EVR1. 1 Publication
    VAR_063933
    Natural varianti342 – 3421M → V in EVR1. 2 Publications
    VAR_063934
    Natural varianti370 – 3701A → G in retinopathy of prematurity. 1 Publication
    VAR_063935
    Natural varianti417 – 4171R → Q in EVR1; 48% loss of its wild-type activity; associated in a EVR4 patient with mutation CYS-444 in LPR5. 2 Publications
    VAR_063936
    Natural varianti436 – 4361K → T in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036413
    Natural varianti445 – 4451T → P in EVR1. 1 Publication
    VAR_063937
    Natural varianti488 – 4881G → D in EVR1. 2 Publications
    VAR_063938
    Natural varianti493 – 4942Missing in EVR1; loss of function. 1 Publication
    VAR_017777
    Natural varianti497 – 4971S → F in EVR1. 1 Publication
    VAR_063939
    Natural varianti525 – 5251G → R in EVR1. 1 Publication
    VAR_063940

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB032417 mRNA. Translation: BAA86286.1.
    AY462097 mRNA. Translation: AAR23924.1.
    AK292768 mRNA. Translation: BAF85457.1.
    AP001528 Genomic DNA. No translation available.
    BC114527 mRNA. Translation: AAI14528.1.
    BC114622 mRNA. Translation: AAI14623.1.
    CCDSiCCDS8279.1.
    PIRiJC7127.
    RefSeqiNP_036325.2. NM_012193.3.
    UniGeneiHs.591968.

    Genome annotation databases

    EnsembliENST00000531380; ENSP00000434034; ENSG00000174804.
    GeneIDi8322.
    KEGGihsa:8322.
    UCSCiuc001pce.3. human.

    Polymorphism databases

    DMDMi62298045.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB032417 mRNA. Translation: BAA86286.1 .
    AY462097 mRNA. Translation: AAR23924.1 .
    AK292768 mRNA. Translation: BAF85457.1 .
    AP001528 Genomic DNA. No translation available.
    BC114527 mRNA. Translation: AAI14528.1 .
    BC114622 mRNA. Translation: AAI14623.1 .
    CCDSi CCDS8279.1.
    PIRi JC7127.
    RefSeqi NP_036325.2. NM_012193.3.
    UniGenei Hs.591968.

    3D structure databases

    ProteinModelPortali Q9ULV1.
    SMRi Q9ULV1. Positions 45-149, 193-511.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113918. 6 interactions.
    IntActi Q9ULV1. 7 interactions.
    MINTi MINT-2822299.
    STRINGi 9606.ENSP00000311581.

    Protein family/group databases

    MEROPSi I93.001.
    GPCRDBi Search...

    PTM databases

    PhosphoSitei Q9ULV1.

    Polymorphism databases

    DMDMi 62298045.

    Proteomic databases

    MaxQBi Q9ULV1.
    PaxDbi Q9ULV1.
    PRIDEi Q9ULV1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000531380 ; ENSP00000434034 ; ENSG00000174804 .
    GeneIDi 8322.
    KEGGi hsa:8322.
    UCSCi uc001pce.3. human.

    Organism-specific databases

    CTDi 8322.
    GeneCardsi GC11M086656.
    GeneReviewsi FZD4.
    HGNCi HGNC:4042. FZD4.
    HPAi HPA042328.
    MIMi 133780. phenotype.
    604579. gene.
    neXtProti NX_Q9ULV1.
    Orphaneti 891. Familial exudative vitreoretinopathy.
    91495. Persistent hyperplastic primary vitreous.
    90050. Retinopathy of prematurity.
    PharmGKBi PA28459.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284049.
    HOGENOMi HOG000233236.
    HOVERGENi HBG006977.
    InParanoidi Q9ULV1.
    KOi K02354.
    OMAi SMCLSVK.
    OrthoDBi EOG7M3J01.
    PhylomeDBi Q9ULV1.
    TreeFami TF317907.

    Enzyme and pathway databases

    Reactomei REACT_172599. WNT5A-dependent internalization of FZD4.
    REACT_172761. Ca2+ pathway.
    REACT_18372. Class B/2 (Secretin family receptors).
    REACT_200716. regulation of FZD by ubiquitination.
    SignaLinki Q9ULV1.

    Miscellaneous databases

    GeneWikii FZD4.
    GenomeRNAii 8322.
    NextBioi 31163.
    PROi Q9ULV1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9ULV1.
    Bgeei Q9ULV1.
    CleanExi HS_FZD4.
    Genevestigatori Q9ULV1.

    Family and domain databases

    Gene3Di 1.10.2000.10. 1 hit.
    InterProi IPR000539. Frizzled.
    IPR015526. Frizzled/SFRP.
    IPR020067. Frizzled_dom.
    IPR026551. FZD4.
    IPR017981. GPCR_2-like.
    [Graphical view ]
    PANTHERi PTHR11309. PTHR11309. 1 hit.
    PTHR11309:SF23. PTHR11309:SF23. 1 hit.
    Pfami PF01534. Frizzled. 1 hit.
    PF01392. Fz. 1 hit.
    [Graphical view ]
    PRINTSi PR00489. FRIZZLED.
    SMARTi SM00063. FRI. 1 hit.
    [Graphical view ]
    SUPFAMi SSF63501. SSF63501. 1 hit.
    PROSITEi PS50038. FZ. 1 hit.
    PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of human frizzled-4 on chromosome 11q14-q21."
      Kirikoshi H., Sagara N., Koike J., Tanaka K., Sekihara H., Hirai M., Katoh M.
      Biochem. Biophys. Res. Commun. 264:955-961(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal lung.
    2. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Kopatz S.A., Aronstam R.S., Sharma S.V.
      Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Heart.
    3. "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].
      Tissue: Trachea.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals."
      Tanaka S., Akiyoshi T., Mori M., Wands J.R., Sugimachi K.
      Proc. Natl. Acad. Sci. U.S.A. 95:10164-10169(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 257-318.
      Tissue: Esophageal carcinoma.
    7. Cited for: UBIQUITINATION BY ZNRF3.
    8. Cited for: VARIANT EVR1 493-MET-TRP-494 DEL, CHARACTERIZATION OF VARIANT EVR1 493-MET-TRP-494 DEL.
    9. "Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity."
      Kondo H., Hayashi H., Oshima K., Tahira T., Hayashi K.
      Br. J. Ophthalmol. 87:1291-1295(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 TYR-69; VAL-105; GLN-417 AND ASP-488.
    10. "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy."
      Yoshida S., Arita R., Yoshida A., Tada H., Emori A., Noda Y., Nakao S., Fujisawa K., Ishibashi T.
      Am. J. Ophthalmol. 138:670-671(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EVR1 VAL-342.
    11. "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair."
      Xu Q., Wang Y., Dabdoub A., Smallwood P.M., Williams J., Woods C., Kelley M.W., Jiang L., Tasman W., Zhang K., Nathans J.
      Cell 116:883-895(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 VAL-105 AND VAL-157, CHARACTERIZATION OF VARIANTS EVR1 VAL-105; VAL-157 AND 493-MET-TRP-494 DEL.
    12. Cited for: VARIANTS EVR1 ASP-36; THR-105; VAL-157 AND PHE-497, VARIANT SER-168.
    13. "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)."
      Omoto S., Hayashi T., Kitahara K., Takeuchi T., Ueoka Y.
      Ophthalmic Genet. 25:81-90(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 TYR-69 AND ARG-181.
    14. "Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity."
      MacDonald M.L., Goldberg Y.P., Macfarlane J., Samuels M.E., Trese M.T., Shastry B.S.
      Clin. Genet. 67:363-366(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 SER-33 AND VAL-256, VARIANT SER-168.
    15. "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes."
      Qin M., Hayashi H., Oshima K., Tahira T., Hayashi K., Kondo H.
      Hum. Mutat. 26:104-112(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 TYR-69; VAL-105; CYS-335; VAL-342; GLN-417 AND ASP-488.
    16. "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy."
      Nallathambi J., Shukla D., Rajendran A., Namperumalsamy P., Muthulakshmi R., Sundaresan P.
      Mol. Vis. 12:1086-1092(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 SER-33 AND ARG-204.
    17. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-436.
    18. "Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy."
      Qin M., Kondo H., Tahira T., Hayashi K.
      Hum. Genet. 122:615-623(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS EVR1 VAL-105 AND GLN-417, CHARACTERIZATION OF VARIANT TYR-69.
    19. Cited for: VARIANTS EVR1 SER-33; LYS-223 AND PRO-445, VARIANT SER-168.
    20. "Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees."
      Robitaille J.M., Wallace K., Zheng B., Beis M.J., Samuels M., Hoskin-Mott A., Guernsey D.L.
      Ophthalmic Genet. 30:23-30(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 THR-114 AND 493-MET-TRP-494 DEL.
    21. "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
      Nikopoulos K., Venselaar H., Collin R.W.J., Riveiro-Alvarez R., Boonstra F.N., Hooymans J.M., Mukhopadhyay A., Shears D., van Bers M., de Wijs I.J., van Essen A.J., Sijmons R.H., Tilanus M.A.D., van Nouhuys C.E., Ayuso C., Hoefsloot L.H., Cremers F.P.M.
      Hum. Mutat. 31:656-666(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR1 GLN-40; TYR-204 AND ARG-525.
    22. Cited for: VARIANTS RETINOPATHY OF PREMATURITY ASN-203 AND GLY-370.

    Entry informationi

    Entry nameiFZD4_HUMAN
    AccessioniPrimary (citable) accession number: Q9ULV1
    Secondary accession number(s): A8K9Q3, Q14C97, Q6S9E4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 5, 2001
    Last sequence update: March 29, 2005
    Last modified: October 1, 2014
    This is version 136 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. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    3. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

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