InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: WNT1

Summary

InnateDB Protein

IDBP-30721.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

WNT1

Protein Name

wingless-type MMTV integration site family, member 1

Synonyms

BMND16; INT1; OI15;

Species

Homo sapiens

Ensembl Protein

ENSP00000293549

InnateDB Gene

IDBG-30719 (WNT1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:23499309}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix.

Disease Associations

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. {ECO:0000269PubMed:23499309, ECO:0000269PubMed:23656646}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.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. {ECO:0000269PubMed:23434763, ECO:0000269PubMed:23499309, ECO:0000269PubMed:23499310, ECO:0000269PubMed:23656646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005109	frizzled binding
GO:0005125	cytokine activity
GO:0005515	protein binding
GO:0019904	protein domain specific binding
GO:0044212	transcription regulatory region DNA binding
GO:0048018	receptor agonist activity

Biological Process

GO:0000578	embryonic axis specification
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001934	positive regulation of protein phosphorylation
GO:0007267	cell-cell signaling
GO:0007275	multicellular organismal development
GO:0007520	myoblast fusion
GO:0008284	positive regulation of cell proliferation
GO:0009611	response to wounding
GO:0010592	positive regulation of lamellipodium assembly
GO:0010812	negative regulation of cell-substrate adhesion
GO:0014902	myotube differentiation
GO:0016055	Wnt signaling pathway
GO:0021527	spinal cord association neuron differentiation
GO:0021536	diencephalon development
GO:0021551	central nervous system morphogenesis
GO:0021588	cerebellum formation
GO:0021797	forebrain anterior/posterior pattern specification
GO:0022004	midbrain-hindbrain boundary maturation during brain development
GO:0022037	metencephalon development
GO:0022408	negative regulation of cell-cell adhesion
GO:0030182	neuron differentiation
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514	negative regulation of BMP signaling pathway
GO:0030579	ubiquitin-dependent SMAD protein catabolic process
GO:0030901	midbrain development
GO:0030917	midbrain-hindbrain boundary development
GO:0031100	organ regeneration
GO:0033077	T cell differentiation in thymus
GO:0042472	inner ear morphogenesis
GO:0042770	signal transduction in response to DNA damage
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway
GO:0044336	canonical Wnt signaling pathway involved in negative regulation of apoptotic process
GO:0045165	cell fate commitment
GO:0045596	negative regulation of cell differentiation
GO:0045599	negative regulation of fat cell differentiation
GO:0045747	positive regulation of Notch signaling pathway
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048146	positive regulation of fibroblast proliferation
GO:0048663	neuron fate commitment
GO:0048664	neuron fate determination
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060061	Spemann organizer formation
GO:0060070	canonical Wnt signaling pathway
GO:0060348	bone development
GO:0061184	positive regulation of dermatome development
GO:0070365	hepatocyte differentiation
GO:0071375	cellular response to peptide hormone stimulus
GO:0071425	hematopoietic stem cell proliferation
GO:0090344	negative regulation of cell aging
GO:2000059	negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005788	endoplasmic reticulum lumen
GO:0005796	Golgi lumen
GO:0005886	plasma membrane
GO:0009986	cell surface