O00755 (WNT7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein Wnt-7a

Gene names

Name:

WNT7A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	349 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Secreted › extracellular space › extracellular 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 process	Wnt signaling pathway
Cellular component	Extracellular matrix Secreted
Disease	Disease mutation
Domain	Signal
Molecular function	Developmental protein
PTM	Glycoprotein Lipoprotein Palmitate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells Inferred from direct assay PubMed 15802269. Source: BHF-UCL activation of JUN kinase activity Inferred from Biological aspect of Ancestor. Source: RefGenome anterior/posterior pattern specification Inferred from Biological aspect of Ancestor. Source: RefGenome asymmetric protein localization Inferred from electronic annotation. Source: Compara canonical Wnt receptor signaling pathway Inferred from direct assay PubMed 12857724PubMed 15802269PubMed 18986540. Source: BHF-UCL cartilage development Inferred from electronic annotation. Source: Compara 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 Biological aspect of Ancestor. Source: RefGenome cerebellar granule cell differentiation Inferred from Biological aspect of Ancestor. Source: RefGenome dorsal/ventral pattern formation Inferred from Biological aspect of Ancestor. Source: RefGenome 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: Compara 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: Compara negative regulation of neurogenesis Inferred from direct assay PubMed 12843296. Source: BHF-UCL neurotransmitter secretion Inferred from electronic annotation. Source: Compara non-canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara oviduct development Inferred from electronic annotation. Source: Compara 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 receptor signaling pathway Inferred from Biological aspect of Ancestor. Source: RefGenome 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 regulation of axon diameter Inferred from Biological aspect of Ancestor. Source: RefGenome response to estrogen stimulus Inferred from electronic annotation. Source: Compara satellite cell activation Inferred from Biological aspect of Ancestor. Source: RefGenome satellite cell maintenance involved in skeletal muscle regeneration Inferred from Biological aspect of Ancestor. Source: RefGenome sex differentiation Traceable author statement PubMed 9790192. Source: ProtInc skeletal system development Inferred from Biological aspect of Ancestor. Source: RefGenome somatic stem cell division Inferred from electronic annotation. Source: Compara synapse organization Inferred from electronic annotation. Source: Compara uterus development Inferred from Biological aspect of Ancestor. Source: RefGenome uterus morphogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	cell surface Inferred from electronic annotation. Source: Compara extracellular space Inferred from Biological aspect of Ancestor. Source: RefGenome plasma membrane Inferred from Biological aspect of Ancestor. Source: RefGenome proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	cytokine 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
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 349	318	Protein Wnt-7a		PRO_0000041442
Amino acid modifications
	Lipidation	73	1	S-palmitoyl cysteine By similarity
	Lipidation	206	1	O-palmitoyl serine; by PORCN By similarity
	Glycosylation	83	1	N-linked (GlcNAc...) Potential
	Glycosylation	127	1	N-linked (GlcNAc...) Potential
	Glycosylation	295	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	72	1	E → K in LPHAS. Ref.9		VAR_065765
	Natural variant	109	1	A → T in FUHRS; retains activity that is significant but not comparable to wild-type activity. Ref.6		VAR_030673
	Natural variant	222	1	R → W in LPHAS. Ref.8		VAR_064480
	Natural variant	292	1	R → C in LPHAS; results in a loss of function mutation with some residual activity. Ref.6 Ref.7		VAR_030674
Experimental info
	Sequence conflict	6	1	R → L in AAC51319. Ref.1
	Sequence conflict	14	1	L → F in BAA82509. Ref.2
	Sequence conflict	20	1	Y → C in AAC51319. Ref.1
	Sequence conflict	35	1	S → T in AAC51319. Ref.1
	Sequence conflict	103 – 104	2	EA → DG in AAC51319. Ref.1
	Sequence conflict	125	1	Q → H in AAC51319. Ref.1
	Sequence conflict	280	1	E → G Ref.5
	Sequence conflict	329	1	H → Q in BAA82509. Ref.2
	Sequence conflict	338	1	T → K in BAA82509. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	O00755 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: 259EF506CFCD7AB0	FASTA	349	39,005
	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

References

	« Hide 'large scale' referencesShow '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. , 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

GeneReviews

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.
IPI	IPI00012990.
RefSeq	NP_004616.2. NM_004625.3.
UniGene	Hs.72290.
3D structure databases
ProteinModelPortal	O00755.
ModBase	Search...
Protein-protein interaction databases
IntAct	O00755. 1 interaction.
MINT	MINT-1379349.
STRING	9606.ENSP00000285018.
PTM databases
PhosphoSite	O00755.
Proteomic databases
PaxDb	O00755.
PRIDE	O00755.
Protocols and materials databases
DNASU	7476.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000285018; ENSP00000285018; ENSG00000154764.
GeneID	7476.
KEGG	hsa:7476.
UCSC	uc003bye.1. human.
Organism-specific databases
CTD	7476.
GeneCards	GC03M013835.
HGNC	HGNC:12786. WNT7A.
HPA	CAB025894. HPA015719.
MIM	228930. phenotype. 276820. phenotype. 601570. gene.
neXtProt	NX_O00755.
Orphanet	2854. Fuhrmann syndrome. 2879. Phocomelia, Schinzel type.
PharmGKB	PA37387.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG284879.
HOGENOM	HOG000039528.
HOVERGEN	HBG001595.
InParanoid	O00755.
KO	K00572.
OMA	RMCNKTA.
OrthoDB	EOG4GXFMZ.
PhylomeDB	O00755.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
Bgee	O00755.
CleanEx	HS_WNT7A.
Genevestigator	O00755.
GermOnline	ENSG00000154764. Homo sapiens.
Family and domain databases
InterPro	IPR005817. Wnt. IPR013300. Wnt7. IPR018161. Wnt_CS. [Graphical view]
PANTHER	PTHR12027. PTHR12027. 1 hit. PTHR12027:SF22. PTHR12027:SF22. 1 hit.
Pfam	PF00110. wnt. 1 hit. [Graphical view]
PRINTS	PR01891. WNT7PROTEIN. PR01349. WNTPROTEIN.
SMART	SM00097. WNT1. 1 hit. [Graphical view]
PROSITE	PS00246. WNT1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7476.
NextBio	29284.
SOURCE	Search...

Entry information

Entry name

WNT7A_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.