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O00755

- WNT7A_HUMAN

UniProt

O00755 - WNT7A_HUMAN

Protein

Protein Wnt-7a

Gene

WNT7A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 2 (17 Apr 2007)
      Previous versions | rss
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    Functioni

    Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. Signaling by Wnt-7a allows sexually dimorphic development of the mullerian ducts By similarity.By similarity

    GO - Molecular functioni

    1. cytokine activity Source: BHF-UCL
    2. frizzled binding Source: RefGenome
    3. receptor agonist activity Source: BHF-UCL
    4. receptor binding Source: BHF-UCL

    GO - Biological processi

    1. asymmetric protein localization Source: Ensembl
    2. canonical Wnt signaling pathway Source: BHF-UCL
    3. cartilage condensation Source: AgBase
    4. cell fate commitment Source: RefGenome
    5. cell proliferation in forebrain Source: BHF-UCL
    6. cellular response to transforming growth factor beta stimulus Source: UniProtKB
    7. central nervous system vasculogenesis Source: Ensembl
    8. cerebellar granule cell differentiation Source: Ensembl
    9. chondrocyte differentiation Source: AgBase
    10. dorsal/ventral pattern formation Source: Ensembl
    11. embryonic axis specification Source: BHF-UCL
    12. embryonic digit morphogenesis Source: BHF-UCL
    13. embryonic forelimb morphogenesis Source: BHF-UCL
    14. embryonic hindlimb morphogenesis Source: BHF-UCL
    15. establishment of cell polarity Source: Ensembl
    16. lens fiber cell development Source: BHF-UCL
    17. negative regulation of apoptotic process Source: Ensembl
    18. negative regulation of neurogenesis Source: BHF-UCL
    19. neuron differentiation Source: RefGenome
    20. neurotransmitter secretion Source: Ensembl
    21. non-canonical Wnt signaling pathway Source: Ensembl
    22. oviduct development Source: Ensembl
    23. palate development Source: BHF-UCL
    24. positive regulation of canonical Wnt signaling pathway Source: Ensembl
    25. positive regulation of epithelial cell proliferation involved in wound healing Source: BHF-UCL
    26. positive regulation of JNK cascade Source: RefGenome
    27. positive regulation of synapse assembly Source: BHF-UCL
    28. positive regulation of transcription, DNA-templated Source: BHF-UCL
    29. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    30. regulation of axon diameter Source: Ensembl
    31. response to estradiol Source: Ensembl
    32. sex differentiation Source: ProtInc
    33. skeletal muscle satellite cell activation Source: Ensembl
    34. skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration Source: Ensembl
    35. somatic stem cell division Source: Ensembl
    36. stem cell development Source: BHF-UCL
    37. synapse organization Source: Ensembl
    38. uterus morphogenesis Source: Ensembl
    39. Wnt signaling pathway involved in wound healing, spreading of epidermal cells Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Wnt signaling pathway

    Enzyme and pathway databases

    ReactomeiREACT_163710. WNT ligand biogenesis and trafficking.
    REACT_18372. Class B/2 (Secretin family receptors).
    SignaLinkiO00755.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Wnt-7a
    Gene namesi
    Name:WNT7A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:12786. WNT7A.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]: A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721E → K in LPHAS. 1 Publication
    VAR_065765
    Natural varianti222 – 2221R → W in LPHAS. 1 Publication
    VAR_064480
    Natural varianti292 – 2921R → C in LPHAS; results in a loss of function mutation with some residual activity. 2 Publications
    VAR_030674
    Fuhrmann syndrome (FUHRS) [MIM:228930]: Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti109 – 1091A → T in FUHRS; retains activity that is significant but not comparable to wild-type activity. 1 Publication
    VAR_030673

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi228930. phenotype.
    276820. phenotype.
    Orphaneti2854. Fuhrmann syndrome.
    2879. Phocomelia, Schinzel type.
    PharmGKBiPA37387.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 349318Protein Wnt-7aPRO_0000041442Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi73 ↔ 84By similarity
    Glycosylationi83 – 831N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi123 ↔ 131By similarity
    Glycosylationi127 – 1271N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi133 ↔ 152By similarity
    Disulfide bondi200 ↔ 214By similarity
    Disulfide bondi202 ↔ 209By similarity
    Lipidationi206 – 2061O-palmitoyl serine; by PORCNBy similarity
    Disulfide bondi294 ↔ 309By similarity
    Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi324 ↔ 339By similarity
    Disulfide bondi326 ↔ 336By similarity
    Disulfide bondi331 ↔ 332By similarity

    Post-translational modificationi

    Palmitoylation at Ser-206 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

    MaxQBiO00755.
    PaxDbiO00755.
    PRIDEiO00755.

    PTM databases

    PhosphoSiteiO00755.

    Expressioni

    Tissue specificityi

    Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.

    Gene expression databases

    BgeeiO00755.
    CleanExiHS_WNT7A.
    GenevestigatoriO00755.

    Organism-specific databases

    HPAiCAB025894.
    HPA015719.

    Interactioni

    Subunit structurei

    Interacts with PORCN.By similarity

    Protein-protein interaction databases

    IntActiO00755. 2 interactions.
    MINTiMINT-1379349.
    STRINGi9606.ENSP00000285018.

    Structurei

    3D structure databases

    ProteinModelPortaliO00755.
    SMRiO00755. Positions 61-278.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Wnt family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG284879.
    HOGENOMiHOG000039528.
    HOVERGENiHBG001595.
    InParanoidiO00755.
    KOiK00572.
    OMAiHISGCDL.
    OrthoDBiEOG7C8GJ8.
    PhylomeDBiO00755.
    TreeFamiTF105310.

    Family and domain databases

    InterProiIPR005817. Wnt.
    IPR013300. Wnt7.
    IPR018161. Wnt_CS.
    [Graphical view]
    PANTHERiPTHR12027. PTHR12027. 1 hit.
    PfamiPF00110. wnt. 1 hit.
    [Graphical view]
    PRINTSiPR01891. WNT7PROTEIN.
    PR01349. WNTPROTEIN.
    SMARTiSM00097. WNT1. 1 hit.
    [Graphical view]
    PROSITEiPS00246. WNT1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    O00755-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNRKARRCLG HLFLSLGMVY LRIGGFSSVV ALGASIICNK IPGLAPRQRA    50
    ICQSRPDAII VIGEGSQMGL DECQFQFRNG RWNCSALGER TVFGKELKVG 100
    SREAAFTYAI IAAGVAHAIT AACTQGNLSD CGCDKEKQGQ YHRDEGWKWG 150
    GCSADIRYGI GFAKVFVDAR EIKQNARTLM NLHNNEAGRK ILEENMKLEC 200
    KCHGVSGSCT TKTCWTTLPQ FRELGYVLKD KYNEAVHVEP VRASRNKRPT 250
    FLKIKKPLSY RKPMDTDLVY IEKSPNYCEE DPVTGSVGTQ GRACNKTAPQ 300
    ASGCDLMCCG RGYNTHQYAR VWQCNCKFHW CCYVKCNTCS ERTEMYTCK 349
    Length:349
    Mass (Da):39,005
    Last modified:April 17, 2007 - v2
    Checksum:i259EF506CFCD7AB0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti6 – 61R → L in AAC51319. (PubMed:9161407)Curated
    Sequence conflicti14 – 141L → F in BAA82509. (PubMed:8893824)Curated
    Sequence conflicti20 – 201Y → C in AAC51319. (PubMed:9161407)Curated
    Sequence conflicti35 – 351S → T in AAC51319. (PubMed:9161407)Curated
    Sequence conflicti103 – 1042EA → DG in AAC51319. (PubMed:9161407)Curated
    Sequence conflicti125 – 1251Q → H in AAC51319. (PubMed:9161407)Curated
    Sequence conflicti280 – 2801E → G(PubMed:8168088)Curated
    Sequence conflicti329 – 3291H → Q in BAA82509. (PubMed:8893824)Curated
    Sequence conflicti338 – 3381T → K in BAA82509. (PubMed:8893824)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721E → K in LPHAS. 1 Publication
    VAR_065765
    Natural varianti109 – 1091A → T in FUHRS; retains activity that is significant but not comparable to wild-type activity. 1 Publication
    VAR_030673
    Natural varianti222 – 2221R → W in LPHAS. 1 Publication
    VAR_064480
    Natural varianti292 – 2921R → C in LPHAS; results in a loss of function mutation with some residual activity. 2 Publications
    VAR_030674

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U53476 mRNA. Translation: AAC51319.1.
    D83175 mRNA. Translation: BAA82509.1.
    CH471055 Genomic DNA. Translation: EAW64173.1.
    BC008811 mRNA. Translation: AAH08811.1.
    CCDSiCCDS2616.1.
    RefSeqiNP_004616.2. NM_004625.3.
    UniGeneiHs.72290.

    Genome annotation databases

    EnsembliENST00000285018; ENSP00000285018; ENSG00000154764.
    GeneIDi7476.
    KEGGihsa:7476.
    UCSCiuc003bye.1. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U53476 mRNA. Translation: AAC51319.1 .
    D83175 mRNA. Translation: BAA82509.1 .
    CH471055 Genomic DNA. Translation: EAW64173.1 .
    BC008811 mRNA. Translation: AAH08811.1 .
    CCDSi CCDS2616.1.
    RefSeqi NP_004616.2. NM_004625.3.
    UniGenei Hs.72290.

    3D structure databases

    ProteinModelPortali O00755.
    SMRi O00755. Positions 61-278.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi O00755. 2 interactions.
    MINTi MINT-1379349.
    STRINGi 9606.ENSP00000285018.

    PTM databases

    PhosphoSitei O00755.

    Proteomic databases

    MaxQBi O00755.
    PaxDbi O00755.
    PRIDEi O00755.

    Protocols and materials databases

    DNASUi 7476.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000285018 ; ENSP00000285018 ; ENSG00000154764 .
    GeneIDi 7476.
    KEGGi hsa:7476.
    UCSCi uc003bye.1. human.

    Organism-specific databases

    CTDi 7476.
    GeneCardsi GC03M013835.
    HGNCi HGNC:12786. WNT7A.
    HPAi CAB025894.
    HPA015719.
    MIMi 228930. phenotype.
    276820. phenotype.
    601570. gene.
    neXtProti NX_O00755.
    Orphaneti 2854. Fuhrmann syndrome.
    2879. Phocomelia, Schinzel type.
    PharmGKBi PA37387.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284879.
    HOGENOMi HOG000039528.
    HOVERGENi HBG001595.
    InParanoidi O00755.
    KOi K00572.
    OMAi HISGCDL.
    OrthoDBi EOG7C8GJ8.
    PhylomeDBi O00755.
    TreeFami TF105310.

    Enzyme and pathway databases

    Reactomei REACT_163710. WNT ligand biogenesis and trafficking.
    REACT_18372. Class B/2 (Secretin family receptors).
    SignaLinki O00755.

    Miscellaneous databases

    GeneWikii WNT7A.
    GenomeRNAii 7476.
    NextBioi 29284.
    PROi O00755.
    SOURCEi Search...

    Gene expression databases

    Bgeei O00755.
    CleanExi HS_WNT7A.
    Genevestigatori O00755.

    Family and domain databases

    InterProi IPR005817. Wnt.
    IPR013300. Wnt7.
    IPR018161. Wnt_CS.
    [Graphical view ]
    PANTHERi PTHR12027. PTHR12027. 1 hit.
    Pfami PF00110. wnt. 1 hit.
    [Graphical view ]
    PRINTSi PR01891. WNT7PROTEIN.
    PR01349. WNTPROTEIN.
    SMARTi SM00097. WNT1. 1 hit.
    [Graphical view ]
    PROSITEi PS00246. WNT1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of a full-length human WNT7A gene implicated in limb development and cell transformation, and mapping to chromosome 3p25."
      Bui T.D., Lako M., Lejeune S., Curtis A.R.J., Strachan T., Lindsay S., Harris A.L.
      Gene 189:25-29(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal brain.
    2. "Isolation, characterization and chromosomal assignment of the human WNT7A gene."
      Ikegawa S., Kumano Y., Okui K., Fujiwara T., Takahashi E., Nakamura Y.
      Cytogenet. Cell Genet. 74:149-152(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
      Tissue: Ovary.
    5. "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 204-327.
      Tissue: Mammary gland.
    6. "Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome."
      Woods C.G., Stricker S., Seemann P., Stern R., Cox J., Sherridan E., Roberts E., Springell K., Scott S., Karbani G., Sharif S.M., Toomes C., Bond J., Kumar D., Al-Gazali L., Mundlos S.
      Am. J. Hum. Genet. 79:402-408(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FUHRS THR-109, VARIANT LPHAS CYS-292, CHARACTERIZATION OF VARIANT FUHRS THR-109, CHARACTERIZATION OF VARIANT LPHAS CYS-292.
    7. "Al-Awadi/Raas-Rothschild syndrome: two new cases and review."
      Lonardo F., Sabba G., Luquetti D.V., Monica M.D., Scarano G.
      Am. J. Med. Genet. A 143:3169-3174(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LPHAS CYS-292.
    8. "A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome."
      Kantaputra P.N., Mundlos S., Sripathomsawat W.
      Am. J. Med. Genet. A 152:2832-2837(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LPHAS TRP-222.
    9. "Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation."
      Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S., Sassi S., Ferrari A., Mari F., Zabel B., Lausch E., Unger S., Superti-Furga A.
      Am. J. Med. Genet. A 155:332-336(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LPHAS LYS-72.

    Entry informationi

    Entry nameiWNT7A_HUMAN
    AccessioniPrimary (citable) accession number: O00755
    Secondary accession number(s): Q96H90, Q9Y560
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 128 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 3
      Human chromosome 3: 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