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Protein

Proto-oncogene Wnt-1

Gene

WNT1

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. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Has a role in osteoblast function and bone development.1 Publication

GO - Molecular functioni

  • cytokine activity Source: BHF-UCL
  • frizzled binding Source: BHF-UCL
  • receptor agonist activity Source: BHF-UCL
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

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).
REACT_264034. disassembly of the destruction complex and recruitment of AXIN to the membrane.
REACT_264199. PCP/CE pathway.
REACT_264596. TCF dependent signaling in response to WNT.
REACT_27161. Transcriptional regulation of white adipocyte differentiation.
SignaLinkiP04628.

Names & Taxonomyi

Protein namesi
Recommended name:
Proto-oncogene Wnt-1
Alternative name(s):
Proto-oncogene Int-1 homolog
Gene namesi
Name:WNT1
Synonyms:INT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:12774. WNT1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Osteoporosis (OSTEOP)2 Publications

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.

See also OMIM:166710
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti218 – 2181C → G in OSTEOP; reduced capacity to activate canonical WNT signaling. 1 Publication
VAR_069629
Natural varianti235 – 2351R → W in OSTEOP; associated with susceptibility to early-onset osteoporosis; completely fails to activate the WNT-regulated beta-catenin signaling cascade. 1 Publication
VAR_069630
Osteogenesis imperfecta 15 (OI15)4 Publications

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

Disease descriptionAn autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

See also OMIM:615220
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431C → F in OI15. 1 Publication
VAR_069627
Natural varianti177 – 1771G → C in OI15; completely fails to activate the WNT-regulated beta-catenin signaling cascade. 1 Publication
VAR_069628
Natural varianti298 – 2981F → C in OI15. 2 Publications
VAR_069631
Natural varianti355 – 3551V → F in OI15. 1 Publication
VAR_069632

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta, Proto-oncogene

Organism-specific databases

MIMi166710. phenotype.
615220. phenotype.
615221. phenotype.
Orphaneti85193. Idiopathic juvenile osteoporosis.
216812. Osteogenesis imperfecta type 3.
216820. Osteogenesis imperfecta type 4.
PharmGKBiPA37376.

Polymorphism and mutation databases

BioMutaiWNT1.
DMDMi139743.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence AnalysisAdd
BLAST
Chaini28 – 370343Proto-oncogene Wnt-1PRO_0000041405Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi29 – 291N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi93 ↔ 104By similarity
Disulfide bondi143 ↔ 151By similarity
Disulfide bondi153 ↔ 170By similarity
Disulfide bondi218 ↔ 232By similarity
Disulfide bondi220 ↔ 227By similarity
Lipidationi224 – 2241O-palmitoleyl serine; by PORCNBy similarity
Disulfide bondi315 ↔ 330By similarity
Glycosylationi316 – 3161N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi345 ↔ 360By similarity
Glycosylationi346 – 3461N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi347 ↔ 357By similarity
Disulfide bondi352 ↔ 353By similarity