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O00755 (WNT7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein Wnt-7a
Gene names
Name:WNT7A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length349 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with PORCN By similarity.

Subcellular location

Secretedextracellular spaceextracellular matrix.

Tissue specificity

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

Post-translational modification

Palmitoylation at Ser-206 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-73. Palmitoylation is necessary for proper trafficking to cell surface By similarity.

Involvement in disease

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. Ref.6 Ref.7 Ref.8 Ref.9

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. Ref.6

Sequence similarities

Belongs to the Wnt family.

Ontologies

Keywords
   Biological processWnt signaling pathway
   Cellular componentExtracellular matrix
Secreted
   DiseaseDisease mutation
   DomainSignal
   Molecular functionDevelopmental protein
   PTMGlycoprotein
Lipoprotein
Palmitate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processWnt signaling pathway involved in wound healing, spreading of epidermal cells

Inferred from direct assay PubMed 15802269. Source: BHF-UCL

asymmetric protein localization

Inferred from electronic annotation. Source: Ensembl

canonical Wnt signaling pathway

Inferred from direct assay PubMed 12857724PubMed 15802269PubMed 18986540. Source: BHF-UCL

cartilage condensation

Inferred from direct assay PubMed 17202865. Source: AgBase

cell fate commitment

Inferred from Biological aspect of Ancestor. Source: RefGenome

cell proliferation in forebrain

Inferred from direct assay PubMed 12843296. Source: BHF-UCL

cellular response to transforming growth factor beta stimulus

Inferred from expression pattern PubMed 15040835. Source: UniProtKB

central nervous system vasculogenesis

Inferred from electronic annotation. Source: Ensembl

cerebellar granule cell differentiation

Inferred from electronic annotation. Source: Ensembl

chondrocyte differentiation

Inferred from direct assay PubMed 17202865. Source: AgBase

dorsal/ventral pattern formation

Inferred from electronic annotation. Source: Ensembl

embryonic axis specification

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

embryonic digit morphogenesis

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

embryonic forelimb morphogenesis

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

embryonic hindlimb morphogenesis

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

establishment of cell polarity

Inferred from electronic annotation. Source: Ensembl

lens fiber cell development

Inferred from sequence or structural similarity PubMed 16258938. Source: BHF-UCL

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of neurogenesis

Inferred from direct assay PubMed 12843296. Source: BHF-UCL

neuron differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

neurotransmitter secretion

Inferred from electronic annotation. Source: Ensembl

non-canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

oviduct development

Inferred from electronic annotation. Source: Ensembl

palate development

Inferred from mutant phenotype PubMed 18413325. Source: BHF-UCL

positive regulation of JNK cascade

Inferred from Biological aspect of Ancestor. Source: RefGenome

positive regulation of canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of epithelial cell proliferation involved in wound healing

Inferred from direct assay PubMed 15802269. Source: BHF-UCL

positive regulation of synapse assembly

Inferred from direct assay PubMed 18986540. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 12857724. Source: BHF-UCL

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 15802269. Source: BHF-UCL

regulation of axon diameter

Inferred from electronic annotation. Source: Ensembl

response to estradiol

Inferred from electronic annotation. Source: Ensembl

satellite cell activation

Inferred from electronic annotation. Source: Ensembl

satellite cell maintenance involved in skeletal muscle regeneration

Inferred from electronic annotation. Source: Ensembl

sex differentiation

Traceable author statement PubMed 9790192. Source: ProtInc

somatic stem cell division

Inferred from electronic annotation. Source: Ensembl

stem cell development

Inferred from direct assay PubMed 12843296. Source: BHF-UCL

synapse organization

Inferred from electronic annotation. Source: Ensembl

uterus morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentGolgi lumen

Traceable author statement. Source: Reactome

cell surface

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum lumen

Traceable author statement. Source: Reactome

extracellular region

Traceable author statement. Source: Reactome

extracellular space

Inferred from Biological aspect of Ancestor. Source: RefGenome

plasma membrane

Traceable author statement. Source: Reactome

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncytokine activity

Inferred from direct assay PubMed 18986540. Source: BHF-UCL

frizzled binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

receptor agonist activity

Inferred from direct assay PubMed 18986540. Source: BHF-UCL

receptor binding

Inferred from physical interaction PubMed 12857724. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3131 Potential
Chain32 – 349318Protein Wnt-7a
PRO_0000041442

Amino acid modifications

Lipidation731S-palmitoyl cysteine By similarity
Lipidation2061O-palmitoyl serine; by PORCN By similarity
Glycosylation831N-linked (GlcNAc...) Potential
Glycosylation1271N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential

Natural variations

Natural variant721E → K in LPHAS. Ref.9
VAR_065765
Natural variant1091A → T in FUHRS; retains activity that is significant but not comparable to wild-type activity. Ref.6
VAR_030673
Natural variant2221R → W in LPHAS. Ref.8
VAR_064480
Natural variant2921R → C in LPHAS; results in a loss of function mutation with some residual activity. Ref.6 Ref.7
VAR_030674

Experimental info

Sequence conflict61R → L in AAC51319. Ref.1
Sequence conflict141L → F in BAA82509. Ref.2
Sequence conflict201Y → C in AAC51319. Ref.1
Sequence conflict351S → T in AAC51319. Ref.1
Sequence conflict103 – 1042EA → DG in AAC51319. Ref.1
Sequence conflict1251Q → H in AAC51319. Ref.1
Sequence conflict2801E → G Ref.5
Sequence conflict3291H → Q in BAA82509. Ref.2
Sequence conflict3381T → K in BAA82509. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O00755 [UniParc].

Last modified April 17, 2007. Version 2.
Checksum: 259EF506CFCD7AB0

FASTA34939,005
        10         20         30         40         50         60 
MNRKARRCLG HLFLSLGMVY LRIGGFSSVV ALGASIICNK IPGLAPRQRA ICQSRPDAII 

        70         80         90        100        110        120 
VIGEGSQMGL DECQFQFRNG RWNCSALGER TVFGKELKVG SREAAFTYAI IAAGVAHAIT 

       130        140        150        160        170        180 
AACTQGNLSD CGCDKEKQGQ YHRDEGWKWG GCSADIRYGI GFAKVFVDAR EIKQNARTLM 

       190        200        210        220        230        240 
NLHNNEAGRK ILEENMKLEC KCHGVSGSCT TKTCWTTLPQ FRELGYVLKD KYNEAVHVEP 

       250        260        270        280        290        300 
VRASRNKRPT FLKIKKPLSY RKPMDTDLVY IEKSPNYCEE DPVTGSVGTQ GRACNKTAPQ 

       310        320        330        340 
ASGCDLMCCG RGYNTHQYAR VWQCNCKFHW CCYVKCNTCS ERTEMYTCK 

« Hide

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U53476 mRNA. Translation: AAC51319.1.
D83175 mRNA. Translation: BAA82509.1.
CH471055 Genomic DNA. Translation: EAW64173.1.
BC008811 mRNA. Translation: AAH08811.1.
RefSeqNP_004616.2. NM_004625.3.
UniGeneHs.72290.

3D structure databases

ProteinModelPortalO00755.
SMRO00755. Positions 53-348.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActO00755. 2 interactions.
MINTMINT-1379349.
STRING9606.ENSP00000285018.

PTM databases

PhosphoSiteO00755.

Proteomic databases

PaxDbO00755.
PRIDEO00755.

Protocols and materials databases

DNASU7476.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000285018; ENSP00000285018; ENSG00000154764.
GeneID7476.
KEGGhsa:7476.
UCSCuc003bye.1. human.

Organism-specific databases

CTD7476.
GeneCardsGC03M013835.
HGNCHGNC:12786. WNT7A.
HPACAB025894.
HPA015719.
MIM228930. phenotype.
276820. phenotype.
601570. gene.
neXtProtNX_O00755.
Orphanet2854. Fuhrmann syndrome.
2879. Phocomelia, Schinzel type.
PharmGKBPA37387.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284879.
HOGENOMHOG000039528.
HOVERGENHBG001595.
InParanoidO00755.
KOK00572.
OMARMCNKTA.
OrthoDBEOG7C8GJ8.
PhylomeDBO00755.
TreeFamTF105310.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkO00755.

Gene expression databases

BgeeO00755.
CleanExHS_WNT7A.
GenevestigatorO00755.

Family and domain databases

InterProIPR005817. Wnt.
IPR013300. Wnt7.
IPR018161. Wnt_CS.
[Graphical view]
PANTHERPTHR12027. PTHR12027. 1 hit.
PTHR12027:SF22. PTHR12027:SF22. 1 hit.
PfamPF00110. wnt. 1 hit.
[Graphical view]
PRINTSPR01891. WNT7PROTEIN.
PR01349. WNTPROTEIN.
SMARTSM00097. WNT1. 1 hit.
[Graphical view]
PROSITEPS00246. WNT1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiWNT7A.
GenomeRNAi7476.
NextBio29284.
PROO00755.
SOURCESearch...

Entry information

Entry nameWNT7A_HUMAN
AccessionPrimary (citable) accession number: O00755
Secondary accession number(s): Q96H90, Q9Y560
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: April 16, 2014
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM