TAG for WNT1

Gene content

Symbol

WNT1 ( by HUGO)

Name

Wingless-Type MMTV Integration Site Family, Member 1

Category

Oncogene

Alias

Wingless-Type MMTV Integration Site Family
Member 1
INT1
Proto-Oncogene Int-1 Homolog
BMND16
OI15
Proto-Oncogene Wnt-1
Wingless-Type MMTV Integration Site Family
Member 1 (Oncogene INT1)

Cytogenetic band

NCBI: 12q13 Ensembl: 12q13.12

Protein information

WNT1_HUMAN

Size: 370 amino acids

Mass: 40982 Da

Subunit: Interacts with PORCN. Interacts with RSPO1, RSPO2 and RSPO3 (By similarity). Interacts with WLS (By similarity)

Function:

UniProtKB/Swiss-Prot Summary: WNT1_HUMAN, P04628 Function: 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

Similarity:

Belongs to the Wnt family [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR005817	Wnt	Wnt superfamily	Family
InterPro	IPR009139	Wnt1	Wnt-1 protein	Family
Blocks	IPB005816	Secreted growth factor Wnt protein	Secreted growth factor Wnt protein

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	canonical Wnt signaling pathway	IMP	GOA	19756656
	canonical Wnt signaling pathway involved in negative regulation of apoptotic process	IMP	GOA	12154096
	negative regulation of BMP signaling pathway	IMP	GOA	16194878
	negative regulation of cell aging	IDA	GOA	16501043
	negative regulation of cell-cell adhesion	IMP	GOA	17072303
	negative regulation of cell-substrate adhesion	IDA	GOA	16501043
	positive regulation of cell proliferation	IMP	GOA	19778454
	positive regulation of cell proliferation	IDA	GOA	16501043
	positive regulation of dermatome development	IDA	GOA	10654605
	positive regulation of fibroblast proliferation	IMP	GOA	19734317
	positive regulation of insulin-like growth factor receptor signaling pathway	IDA	GOA	12154096
	positive regulation of lamellipodium assembly	IMP	GOA	19756656
	positive regulation of Notch signaling pathway	IDA	GOA	16501043
	positive regulation of transcription, DNA-templated	IMP	GOA	19847889
	positive regulation of transcription, DNA-templated	IDA	GOA	10644691
	response to wounding	IEP	GOA	17982423
	signal transduction in response to DNA damage	IDA	GOA	16501043
	Wnt signaling pathway	IDA	GOA	10644691
Cellular Component	cytoplasm	IDA	GOA	11793365
Molecular Function	frizzled binding	IC	GOA	19756656
	receptor agonist activity	IC	GOA	19778454
	transcription regulatory region DNA binding	IDA	GOA	19847889

Disorder & Mutation
Source	Disease
SWISS-PROT	Osteoporosis (OSTEOP) [MIM:166710]: A 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
SWISS-PROT	Osteogenesis imperfecta 15 (OI15) [MIM:615220]: An 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. Note=The disease is caused by mutations affecting the gene represented in this entry

WNT1 cross reference