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Protein

Protein Wnt-7a

Gene

WNT7A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

GO - Molecular functioni

  1. cytokine activity Source: BHF-UCL
  2. frizzled binding Source: GO_Central
  3. receptor agonist activity Source: BHF-UCL
  4. receptor binding Source: BHF-UCL

GO - Biological processi

  1. angiogenesis Source: Ensembl
  2. asymmetric protein localization Source: Ensembl
  3. canonical Wnt signaling pathway Source: BHF-UCL
  4. cartilage condensation Source: AgBase
  5. cell fate commitment Source: GO_Central
  6. cell proliferation in forebrain Source: BHF-UCL
  7. cellular response to transforming growth factor beta stimulus Source: UniProtKB
  8. central nervous system vasculogenesis Source: Ensembl
  9. cerebellar granule cell differentiation Source: Ensembl
  10. chondrocyte differentiation Source: AgBase
  11. dorsal/ventral pattern formation Source: Ensembl
  12. embryonic axis specification Source: BHF-UCL
  13. embryonic digit morphogenesis Source: BHF-UCL
  14. embryonic forelimb morphogenesis Source: BHF-UCL
  15. embryonic hindlimb morphogenesis Source: BHF-UCL
  16. establishment of cell polarity Source: Ensembl
  17. lens fiber cell development Source: BHF-UCL
  18. negative regulation of apoptotic process Source: Ensembl
  19. negative regulation of neurogenesis Source: BHF-UCL
  20. neuron differentiation Source: GO_Central
  21. neurotransmitter secretion Source: Ensembl
  22. non-canonical Wnt signaling pathway Source: Ensembl
  23. oviduct development Source: Ensembl
  24. palate development Source: BHF-UCL
  25. positive regulation of canonical Wnt signaling pathway Source: Ensembl
  26. positive regulation of endothelial cell migration Source: Ensembl
  27. positive regulation of epithelial cell proliferation involved in wound healing Source: BHF-UCL
  28. positive regulation of JNK cascade Source: GO_Central
  29. positive regulation of synapse assembly Source: BHF-UCL
  30. positive regulation of transcription, DNA-templated Source: BHF-UCL
  31. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  32. regulation of axon diameter Source: Ensembl
  33. response to estradiol Source: Ensembl
  34. sex differentiation Source: ProtInc
  35. skeletal muscle satellite cell activation Source: Ensembl
  36. skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration Source: Ensembl
  37. somatic stem cell division Source: Ensembl
  38. somatic stem cell maintenance Source: Ensembl
  39. stem cell development Source: BHF-UCL
  40. synapse organization Source: Ensembl
  41. uterus morphogenesis Source: Ensembl
  42. 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: GO_Central
  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 syndrome4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:276820
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 syndrome1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionDistinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.

See also OMIM:228930
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 – 3131Sequence AnalysisAdd
BLAST
Chaini32 – 349318Protein Wnt-7aPRO_0000041442Add
BLAST

Amino acid modifications

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

Family & Domainsi

Sequence similaritiesi

Belongs to the Wnt family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG284879.
GeneTreeiENSGT00760000118943.
HOGENOMiHOG000039528.
HOVERGENiHBG001595.
InParanoidiO00755.
KOiK00572.
OMAiYIDKSPN.
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

        10         20         30         40         50
MNRKARRCLG HLFLSLGMVY LRIGGFSSVV ALGASIICNK IPGLAPRQRA
60 70 80 90 100
ICQSRPDAII VIGEGSQMGL DECQFQFRNG RWNCSALGER TVFGKELKVG
110 120 130 140 150
SREAAFTYAI IAAGVAHAIT AACTQGNLSD CGCDKEKQGQ YHRDEGWKWG
160 170 180 190 200
GCSADIRYGI GFAKVFVDAR EIKQNARTLM NLHNNEAGRK ILEENMKLEC
210 220 230 240 250
KCHGVSGSCT TKTCWTTLPQ FRELGYVLKD KYNEAVHVEP VRASRNKRPT
260 270 280 290 300
FLKIKKPLSY RKPMDTDLVY IEKSPNYCEE DPVTGSVGTQ GRACNKTAPQ
310 320 330 340
ASGCDLMCCG RGYNTHQYAR VWQCNCKFHW CCYVKCNTCS ERTEMYTCK
Length:349
Mass (Da):39,005
Last modified:April 17, 2007 - v2
Checksum:i259EF506CFCD7AB0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61R → L in AAC51319 (PubMed:9161407).Curated
Sequence conflicti14 – 141L → F in BAA82509 (PubMed:8893824).Curated
Sequence conflicti20 – 201Y → C in AAC51319 (PubMed:9161407).Curated
Sequence conflicti35 – 351S → T in AAC51319 (PubMed:9161407).Curated
Sequence conflicti103 – 1042EA → DG in AAC51319 (PubMed:9161407).Curated
Sequence conflicti125 – 1251Q → H in AAC51319 (PubMed:9161407).Curated
Sequence conflicti280 – 2801E → G (PubMed:8168088).Curated
Sequence conflicti329 – 3291H → Q in BAA82509 (PubMed:8893824).Curated
Sequence conflicti338 – 3381T → K in BAA82509 (PubMed:8893824).Curated

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 databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliO00755.
SMRiO00755. Positions 61-278.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO00755. 2 interactions.
MINTiMINT-1379349.
STRINGi9606.ENSP00000285018.

PTM databases

PhosphoSiteiO00755.

Proteomic databases

MaxQBiO00755.
PaxDbiO00755.
PRIDEiO00755.

Protocols and materials databases

DNASUi7476.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000285018; ENSP00000285018; ENSG00000154764.
GeneIDi7476.
KEGGihsa:7476.
UCSCiuc003bye.1. human.

Organism-specific databases

CTDi7476.
GeneCardsiGC03M013835.
HGNCiHGNC:12786. WNT7A.
HPAiCAB025894.
HPA015719.
MIMi228930. phenotype.
276820. phenotype.
601570. gene.
neXtProtiNX_O00755.
Orphaneti2854. Fuhrmann syndrome.
2879. Phocomelia, Schinzel type.
PharmGKBiPA37387.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG284879.
GeneTreeiENSGT00760000118943.
HOGENOMiHOG000039528.
HOVERGENiHBG001595.
InParanoidiO00755.
KOiK00572.
OMAiYIDKSPN.
OrthoDBiEOG7C8GJ8.
PhylomeDBiO00755.
TreeFamiTF105310.

Enzyme and pathway databases

ReactomeiREACT_163710. WNT ligand biogenesis and trafficking.
REACT_18372. Class B/2 (Secretin family receptors).
SignaLinkiO00755.

Miscellaneous databases

ChiTaRSiWNT7A. human.
GeneWikiiWNT7A.
GenomeRNAii7476.
NextBioi29284.
PROiO00755.
SOURCEiSearch...

Gene expression databases

BgeeiO00755.
CleanExiHS_WNT7A.
GenevestigatoriO00755.

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]
ProtoNetiSearch...

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: March 4, 2015
This is version 133 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.