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Reviewed, UniProtKB/Swiss-Prot O00755 (WNT7A_HUMAN)

Last modified June 16, 2009. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Protein Wnt-7a
Gene names
Name: WNT7A
OrganismHomo sapiens (Human)
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.

Involvement in disease

Defects in WNT7A are the cause of limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]; also called 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.4

Defects in WNT7A are a cause of Fuhrmann syndrome [MIM:228930]; also called 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.4

Sequence similarities

Belongs to the Wnt family.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

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

Amino acid modifications

Glycosylation831N-linked (GlcNAc...) Potential
Glycosylation1271N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential

Natural variations

Natural variant1091A → T in Fuhrmann syndrome; retains activity that is significant but not comparable to wild-type activity.
VAR_030673
Natural variant2921R → C in LPHAS; results in a loss of function mutation with some residual activity. Ref.4
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.3
Sequence conflict3291H → Q in BAA82509. Ref.2
Sequence conflict3381T → K in BAA82509. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O00755-1 [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

[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]"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.
[4]"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

Cross-references

Sequence databases

U53476 mRNA. Translation: AAC51319.1.
D83175 mRNA. Translation: BAA82509.1.
IPIIPI00012990.
RefSeqNP_004616.2.
UniGeneHs.72290

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO00755. 1 interaction.

PTM databases

PhosphoSiteO00755.

Proteomic databases

PRIDEO00755.

Genome annotation databases

EnsemblENSG00000154764. Homo sapiens. [Contig view]
GeneID7476.
KEGGhsa:7476.

Organism-specific databases

GeneCardsGC03M013835.
HGNCHGNC:12786. WNT7A.
HPAHPA015719.
MIM228930. phenotype.
276820. phenotype.
601570. gene.
Orphanet2854. Fuhrmann syndrome.
2879. Phocomelia, Schinzel type.
PharmGKBPA37387.
GenAtlasSearch...

Phylogenomic databases

HOVERGENO00755.
OMAO00755. CNCKFLW.

Gene expression databases

ArrayExpressO00755.
BgeeO00755.
CleanExHS_WNT7A.
GermOnlineENSG00000154764. Homo sapiens.

Family and domain databases

InterProIPR013300. Wnt7.
IPR005816. Wnt_grthfactor.
IPR018161. Wnt_grthfactor_CS.
IPR005817. Wnt_SF.
[Graphical view]
PANTHERPTHR12027. Wnt. 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 Resources

NextBio29284.
SOURCESearch...

Entry information

Entry nameWNT7A_HUMAN
AccessionPrimary (citable) accession number: O00755
Secondary accession number(s): Q9Y560
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: June 16, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 3

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents