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O00755

- WNT7A_HUMAN

UniProt

O00755 - WNT7A_HUMAN

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Protein

Protein Wnt-7a

Gene
WNT7A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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. satellite cell activation Source: Ensembl
  33. satellite cell maintenance involved in skeletal muscle regeneration Source: Ensembl
  34. sex differentiation Source: ProtInc
  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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 3131 Reviewed predictionAdd
BLAST
Chaini32 – 349318Protein Wnt-7aPRO_0000041442Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the Wnt family.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61R → L in AAC51319. 1 Publication
Sequence conflicti14 – 141L → F in BAA82509. 1 Publication
Sequence conflicti20 – 201Y → C in AAC51319. 1 Publication
Sequence conflicti35 – 351S → T in AAC51319. 1 Publication
Sequence conflicti103 – 1042EA → DG in AAC51319. 1 Publication
Sequence conflicti125 – 1251Q → H in AAC51319. 1 Publication
Sequence conflicti280 – 2801E → G1 Publication
Sequence conflicti329 – 3291H → Q in BAA82509. 1 Publication
Sequence conflicti338 – 3381T → K in BAA82509. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 127 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

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