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P56705

- WNT4_HUMAN

UniProt

P56705 - WNT4_HUMAN

Protein

Protein Wnt-4

Gene

WNT4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 4 (10 May 2002)
      Previous versions | rss
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    Functioni

    Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters By similarity. Overexpression may be associated with abnormal proliferation in human breast tissue.By similarity

    GO - Molecular functioni

    1. frizzled binding Source: RefGenome
    2. receptor agonist activity Source: BHF-UCL
    3. transcription corepressor activity Source: UniProtKB

    GO - Biological processi

    1. adrenal gland development Source: UniProtKB
    2. androgen biosynthetic process Source: UniProtKB
    3. branching involved in ureteric bud morphogenesis Source: Ensembl
    4. canonical Wnt signaling pathway Source: UniProtKB
    5. cell fate commitment Source: RefGenome
    6. cellular response to transforming growth factor beta stimulus Source: UniProtKB
    7. embryonic epithelial tube formation Source: Ensembl
    8. epithelial to mesenchymal transition Source: UniProtKB
    9. establishment of protein localization to plasma membrane Source: UniProtKB
    10. female gonad development Source: UniProtKB
    11. female sex determination Source: UniProtKB
    12. immature T cell proliferation in thymus Source: Ensembl
    13. kidney development Source: UniProtKB
    14. liver development Source: UniProtKB
    15. male gonad development Source: UniProtKB
    16. mammary gland epithelium development Source: UniProtKB
    17. mesenchymal to epithelial transition Source: Ensembl
    18. mesonephric tubule development Source: Ensembl
    19. metanephric mesenchymal cell differentiation Source: UniProtKB
    20. metanephric nephron morphogenesis Source: Ensembl
    21. negative regulation of apoptotic signaling pathway Source: Ensembl
    22. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
    23. negative regulation of cell differentiation Source: Ensembl
    24. negative regulation of cell migration Source: Ensembl
    25. negative regulation of fibroblast growth factor receptor signaling pathway Source: Ensembl
    26. negative regulation of gene expression Source: UniProtKB
    27. negative regulation of male gonad development Source: UniProtKB
    28. negative regulation of steroid biosynthetic process Source: UniProtKB
    29. negative regulation of testicular blood vessel morphogenesis Source: UniProtKB
    30. negative regulation of testosterone biosynthetic process Source: UniProtKB
    31. negative regulation of transcription, DNA-templated Source: UniProtKB
    32. negative regulation of wound healing Source: Ensembl
    33. neuron differentiation Source: RefGenome
    34. non-canonical Wnt signaling pathway via MAPK cascade Source: BHF-UCL
    35. oocyte development Source: Ensembl
    36. paramesonephric duct development Source: UniProtKB
    37. positive regulation of aldosterone biosynthetic process Source: UniProtKB
    38. positive regulation of bone mineralization Source: BHF-UCL
    39. positive regulation of canonical Wnt signaling pathway Source: UniProtKB
    40. positive regulation of collagen biosynthetic process Source: BHF-UCL
    41. positive regulation of cortisol biosynthetic process Source: UniProtKB
    42. positive regulation of dermatome development Source: BHF-UCL
    43. positive regulation of focal adhesion assembly Source: Ensembl
    44. positive regulation of meiosis Source: Ensembl
    45. positive regulation of osteoblast differentiation Source: BHF-UCL
    46. positive regulation of Rho GTPase activity Source: Ensembl
    47. positive regulation of stress fiber assembly Source: Ensembl
    48. positive regulation of transcription, DNA-templated Source: UniProtKB
    49. protein palmitoylation Source: UniProtKB
    50. regulation of cell-cell adhesion Source: Ensembl
    51. renal vesicle formation Source: Ensembl
    52. renal vesicle induction Source: Ensembl
    53. smooth muscle cell differentiation Source: Ensembl
    54. somatotropin secreting cell differentiation Source: Ensembl
    55. tertiary branching involved in mammary gland duct morphogenesis Source: Ensembl
    56. thyroid-stimulating hormone-secreting cell differentiation Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Wnt signaling pathway

    Enzyme and pathway databases

    ReactomeiREACT_163710. WNT ligand biogenesis and trafficking.
    REACT_172581. PCP/CE pathway.
    REACT_18372. Class B/2 (Secretin family receptors).
    REACT_200643. negative regulation of TCF-dependent signaling by WNT ligand antagonists.
    SignaLinkiP56705.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Wnt-4
    Gene namesi
    Name:WNT4
    ORF Names:UNQ426/PRO864
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:12783. WNT4.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. endoplasmic reticulum lumen Source: Reactome
    4. extracellular region Source: Reactome
    5. extracellular space Source: UniProtKB
    6. Golgi lumen Source: Reactome
    7. plasma membrane Source: Reactome
    8. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]: A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti114 – 1141A → V in SERKAL; reduced transcript levels. 1 Publication
    VAR_043499
    Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]: A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121L → P in MULLAPL; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production. 1 Publication
    VAR_043497
    Natural varianti83 – 831R → C in MULLAPL; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion. 1 Publication
    VAR_043498
    Natural varianti216 – 2161E → G in MULLAPL; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines. 1 Publication
    VAR_034703

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi158330. phenotype.
    611812. phenotype.
    Orphaneti247768. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome.
    139466. SERKAL syndrome.
    PharmGKBiPA37384.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 351329Protein Wnt-4PRO_0000041421Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi78 ↔ 89By similarity
    Glycosylationi88 – 881N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi128 ↔ 136By similarity
    Disulfide bondi138 ↔ 155By similarity
    Disulfide bondi206 ↔ 220By similarity
    Disulfide bondi208 ↔ 215By similarity
    Lipidationi212 – 2121O-palmitoyl serine; by PORCNBy similarity
    Disulfide bondi296 ↔ 311By similarity
    Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi326 ↔ 341By similarity
    Disulfide bondi328 ↔ 338By similarity
    Disulfide bondi333 ↔ 334By similarity

    Post-translational modificationi

    Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. Palmitoylation is necessary for proper trafficking to cell surface By similarity.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiP56705.
    PRIDEiP56705.

    PTM databases

    PhosphoSiteiP56705.

    Expressioni

    Gene expression databases

    ArrayExpressiP56705.
    BgeeiP56705.
    CleanExiHS_WNT4.
    GenevestigatoriP56705.

    Organism-specific databases

    HPAiHPA011397.

    Interactioni

    Subunit structurei

    Interacts with PORCN.By similarity

    Protein-protein interaction databases

    BioGridi119939. 5 interactions.
    IntActiP56705. 1 interaction.
    STRINGi9606.ENSP00000290167.

    Structurei

    3D structure databases

    ProteinModelPortaliP56705.
    SMRiP56705. Positions 63-280.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Wnt family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG284879.
    HOGENOMiHOG000039529.
    HOVERGENiHBG001595.
    InParanoidiP56705.
    KOiK00408.
    OMAiQVQICKR.
    PhylomeDBiP56705.
    TreeFamiTF105310.

    Family and domain databases

    InterProiIPR005817. Wnt.
    IPR009142. Wnt4.
    IPR018161. Wnt_CS.
    [Graphical view]
    PANTHERiPTHR12027. PTHR12027. 1 hit.
    PfamiPF00110. wnt. 1 hit.
    [Graphical view]
    PRINTSiPR01844. WNT4PROTEIN.
    PR01349. WNTPROTEIN.
    SMARTiSM00097. WNT1. 1 hit.
    [Graphical view]
    PROSITEiPS00246. WNT1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P56705-1) [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.

    « Hide

    MSPRSCLRSL RLLVFAVFSA AASNWLYLAK LSSVGSISEE ETCEKLKGLI    50
    QRQVQMCKRN LEVMDSVRRG AQLAIEECQY QFRNRRWNCS TLDSLPVFGK 100
    VVTQGTREAA FVYAISSAGV AFAVTRACSS GELEKCGCDR TVHGVSPQGF 150
    QWSGCSDNIA YGVAFSQSFV DVRERSKGAS SSRALMNLHN NEAGRKAILT 200
    HMRVECKCHG VSGSCEVKTC WRAVPPFRQV GHALKEKFDG ATEVEPRRVG 250
    SSRALVPRNA QFKPHTDEDL VYLEPSPDFC EQDMRSGVLG TRGRTCNKTS 300
    KAIDGCELLC CGRGFHTAQV ELAERCSCKF HWCCFVKCRQ CQRLVELHTC 350
    R 351
    Length:351
    Mass (Da):39,052
    Last modified:May 10, 2002 - v4
    Checksum:i465D08755C992DA8
    GO
    Isoform 2 (identifier: P56705-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-55: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:296
    Mass (Da):32,954
    Checksum:i546801ED1CF863F1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti106 – 1061T → I in AAG38658. 1 PublicationCurated
    Sequence conflicti111 – 1111F → L in AAG38658. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121L → P in MULLAPL; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production. 1 Publication
    VAR_043497
    Natural varianti83 – 831R → C in MULLAPL; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion. 1 Publication
    VAR_043498
    Natural varianti114 – 1141A → V in SERKAL; reduced transcript levels. 1 Publication
    VAR_043499
    Natural varianti216 – 2161E → G in MULLAPL; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines. 1 Publication
    VAR_034703
    Natural varianti277 – 2771P → L.
    Corresponds to variant rs34228276 [ dbSNP | Ensembl ].
    VAR_052955

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5555Missing in isoform 2. 1 PublicationVSP_054017Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY009398 mRNA. Translation: AAG38658.1.
    AF316543 mRNA. Translation: AAK51699.1.
    AY358947 mRNA. Translation: AAQ89306.1.
    AK296058 mRNA. Translation: BAG58821.1.
    BT020125 mRNA. Translation: AAV38928.1.
    AL445253, AL031281 Genomic DNA. Translation: CAI22251.1.
    AL031281, AL445253 Genomic DNA. Translation: CAI19848.1.
    BC057781 mRNA. Translation: AAH57781.1.
    AF335591 Genomic DNA. Translation: AAK25765.1.
    AH010731 Genomic DNA. Translation: AAK50427.1.
    CCDSiCCDS223.1. [P56705-1]
    RefSeqiNP_110388.2. NM_030761.4. [P56705-1]
    XP_005245954.1. XM_005245897.2. [P56705-2]
    UniGeneiHs.25766.

    Genome annotation databases

    EnsembliENST00000290167; ENSP00000290167; ENSG00000162552. [P56705-1]
    GeneIDi54361.
    KEGGihsa:54361.
    UCSCiuc001bfs.4. human. [P56705-1]

    Polymorphism databases

    DMDMi20532425.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY009398 mRNA. Translation: AAG38658.1 .
    AF316543 mRNA. Translation: AAK51699.1 .
    AY358947 mRNA. Translation: AAQ89306.1 .
    AK296058 mRNA. Translation: BAG58821.1 .
    BT020125 mRNA. Translation: AAV38928.1 .
    AL445253 , AL031281 Genomic DNA. Translation: CAI22251.1 .
    AL031281 , AL445253 Genomic DNA. Translation: CAI19848.1 .
    BC057781 mRNA. Translation: AAH57781.1 .
    AF335591 Genomic DNA. Translation: AAK25765.1 .
    AH010731 Genomic DNA. Translation: AAK50427.1 .
    CCDSi CCDS223.1. [P56705-1 ]
    RefSeqi NP_110388.2. NM_030761.4. [P56705-1 ]
    XP_005245954.1. XM_005245897.2. [P56705-2 ]
    UniGenei Hs.25766.

    3D structure databases

    ProteinModelPortali P56705.
    SMRi P56705. Positions 63-280.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119939. 5 interactions.
    IntActi P56705. 1 interaction.
    STRINGi 9606.ENSP00000290167.

    PTM databases

    PhosphoSitei P56705.

    Polymorphism databases

    DMDMi 20532425.

    Proteomic databases

    PaxDbi P56705.
    PRIDEi P56705.

    Protocols and materials databases

    DNASUi 54361.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290167 ; ENSP00000290167 ; ENSG00000162552 . [P56705-1 ]
    GeneIDi 54361.
    KEGGi hsa:54361.
    UCSCi uc001bfs.4. human. [P56705-1 ]

    Organism-specific databases

    CTDi 54361.
    GeneCardsi GC01M022443.
    GeneReviewsi WNT4.
    HGNCi HGNC:12783. WNT4.
    HPAi HPA011397.
    MIMi 158330. phenotype.
    603490. gene.
    611812. phenotype.
    neXtProti NX_P56705.
    Orphaneti 247768. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome.
    139466. SERKAL syndrome.
    PharmGKBi PA37384.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284879.
    HOGENOMi HOG000039529.
    HOVERGENi HBG001595.
    InParanoidi P56705.
    KOi K00408.
    OMAi QVQICKR.
    PhylomeDBi P56705.
    TreeFami TF105310.

    Enzyme and pathway databases

    Reactomei REACT_163710. WNT ligand biogenesis and trafficking.
    REACT_172581. PCP/CE pathway.
    REACT_18372. Class B/2 (Secretin family receptors).
    REACT_200643. negative regulation of TCF-dependent signaling by WNT ligand antagonists.
    SignaLinki P56705.

    Miscellaneous databases

    GeneWikii WNT4.
    GenomeRNAii 54361.
    NextBioi 35472522.
    PROi P56705.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P56705.
    Bgeei P56705.
    CleanExi HS_WNT4.
    Genevestigatori P56705.

    Family and domain databases

    InterProi IPR005817. Wnt.
    IPR009142. Wnt4.
    IPR018161. Wnt_CS.
    [Graphical view ]
    PANTHERi PTHR12027. PTHR12027. 1 hit.
    Pfami PF00110. wnt. 1 hit.
    [Graphical view ]
    PRINTSi PR01844. WNT4PROTEIN.
    PR01349. WNTPROTEIN.
    SMARTi SM00097. WNT1. 1 hit.
    [Graphical view ]
    PROSITEi PS00246. WNT1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of six novel human WNT genes."
      Testa T.T., Mossakowska D.E., Carter P.S., Hu E., Zhu Y., Kelsell D.P., Murdock P.R., Herrity N.C., Lewis C.J., Cross D.A., Culbert A.A., Reith A.D., Barnes M.R.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans."
      Jordan B.K., Mohammed M., Ching S.T., Delot E., Chen X.N., Dewing P., Swain A., Rao P.N., Elejalde B.R., Vilain E.
      Am. J. Hum. Genet. 68:1102-1109(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    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] (ISOFORM 2).
      Tissue: Subthalamic nucleus.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Placenta.
    8. "Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue."
      Huguet E.L., McMahon J.A., McMahon A.P., Bicknell R., Harris A.L.
      Cancer Res. 54:2615-2621(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 210-329 (ISOFORM 1/2).
      Tissue: Mammary gland.
    9. Peltoketo H., Heikkila M., Vainio S.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
    10. "Expression of Wnt-4 can be regulated by the Wilms' tumor suppressor gene, WT1."
      Sim U.E., Smith A., Szilagi E., Ioannou P., Lindsay M.H., Little M.H.
      Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
    11. "A WNT4 mutation associated with Muellerian-duct regression and virilization in a 46,XX woman."
      Biason-Lauber A., Konrad D., Navratil F., Schoenle E.J.
      N. Engl. J. Med. 351:792-798(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MULLAPL GLY-216, CHARACTERIZATION OF VARIANT MULLAPL GLY-216.
    12. "WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report."
      Biason-Lauber A., De Filippo G., Konrad D., Scarano G., Nazzaro A., Schoenle E.J.
      Hum. Reprod. 22:224-229(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MULLAPL CYS-83, CHARACTERIZATION OF VARIANT MULLAPL CYS-83.
    13. "SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4."
      Mandel H., Shemer R., Borochowitz Z.U., Okopnik M., Knopf C., Indelman M., Drugan A., Tiosano D., Gershoni-Baruch R., Choder M., Sprecher E.
      Am. J. Hum. Genet. 82:39-47(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SERKAL VAL-114, CHARACTERIZATION OF VARIANT SERKAL VAL-114.
    14. "Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Muellerian duct abnormalities: a French collaborative study."
      Philibert P., Biason-Lauber A., Rouzier R., Pienkowski C., Paris F., Konrad D., Schoenle E., Sultan C.
      J. Clin. Endocrinol. Metab. 93:895-900(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MULLAPL PRO-12, CHARACTERIZATION OF VARIANT MULLAPL PRO-12.

    Entry informationi

    Entry nameiWNT4_HUMAN
    AccessioniPrimary (citable) accession number: P56705
    Secondary accession number(s): B4DJF9
    , Q5TZQ0, Q96T81, Q9BXF5, Q9H1J8, Q9UJM2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: May 10, 2002
    Last modified: October 1, 2014
    This is version 138 of the entry and version 4 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 1
      Human chromosome 1: 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