Reviewed, UniProtKB/Swiss-Prot O00755 (WNT7A_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein Wnt-7a

Gene names

Name:

WNT7A

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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.
Involvement in disease	Defects in WNT7A are the cause of limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]; also known as absence of ulna and fibula with severe limb deficiency. LPHAS is a limb-malformation disorder characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia. Ref.6 Defects in WNT7A are a cause of Fuhrmann syndrome [MIM:228930]; also known as fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly. Fuhrmann syndrome is a distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia. 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
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	Wnt receptor signaling pathway, calcium modulating pathway Inferred from electronic annotation. Source: InterPro sex differentiation Traceable author statement. Source: ProtInc
Cellular component	proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	receptor binding Ref.2 Non-traceable author statement. Source: ProtInc signal transducer activity Inferred from electronic annotation. Source: InterPro
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
	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	109	1	A → T in Fuhrmann syndrome; retains activity that is significant but not comparable to wild-type activity. Ref.6		VAR_030673
	Natural variant	292	1	R → C in LPHAS; results in a loss of function mutation with some residual activity. Ref.6		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)
	O00755-1 [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: 9161407] [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: 8893824] [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: 15489334] [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: 8168088] [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: 16826533] [Abstract] Cited for: VARIANT FUHRMANN SYNDROME THR-109, VARIANT LPHAS CYS-292, CHARACTERIZATION OF VARIANT FUHRMANN SYNDROME THR-109, CHARACTERIZATION OF VARIANT LPHAS CYS-292.
+	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.
UniGene	Hs.72290
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O00755. 1 interaction.
STRING	O00755.
PTM databases
PhosphoSite	O00755.
Proteomic databases
PRIDE	O00755.
Genome annotation databases
Ensembl	ENST00000285018; ENSP00000285018; ENSG00000154764; Homo sapiens. [Genome view]
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.
Orphanet	2854. Fuhrmann syndrome. 2879. Phocomelia, Schinzel type.
PharmGKB	PA37387.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10631.
HOGENOM	HBG446188.
HOVERGEN	O00755.
InParanoid	O00755.
OMA	KTRRWIF.
PhylomeDB	O00755.
Gene expression databases
ArrayExpress	O00755.
Bgee	O00755.
CleanEx	HS_WNT7A.
Genevestigator	O00755.
GermOnline	ENSG00000154764. Homo sapiens.
Family and domain databases
InterPro	IPR013300. Wnt7. IPR005816. Wnt_grthfactor. IPR018161. Wnt_grthfactor_CS. IPR005817. Wnt_SF. [Graphical view]
PANTHER	PTHR12027. Wnt. 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 Resources
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:	January 19, 2010
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.