Entity Details

Primary name WNT1
Entity type gene
Source Source Link

Details

PrimaryID7471
RefseqGeneNG_033141
SymbolWNT1
NameWnt family member 1
Chromosome12
Location12q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-09-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsWNT1_HUMAN

GO terms

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GOName
GO:0000578 embryonic axis specification
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001934 positive regulation of protein phosphorylation
GO:0005109 frizzled binding
GO:0005125 cytokine activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0007267 cell-cell signaling
GO:0007520 myoblast fusion
GO:0008284 positive regulation of cell population proliferation
GO:0009611 response to wounding
GO:0009986 cell surface
GO:0010592 positive regulation of lamellipodium assembly
GO:0010812 negative regulation of cell-substrate adhesion
GO:0016015 morphogen activity
GO:0016055 Wnt signaling pathway
GO:0019904 protein domain specific binding
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: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:0030666 endocytic vesicle membrane
GO:0030901 midbrain development
GO:0031100 animal organ regeneration
GO:0033077 T cell differentiation in thymus
GO:0033278 cell proliferation in midbrain
GO:0036520 astrocyte-dopaminergic neuron signaling
GO:0042472 inner ear morphogenesis
GO:0042770 signal transduction in response to DNA damage
GO:0043066 negative regulation of apoptotic process
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0045165 cell fate commitment
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 by RNA polymerase II
GO:0048018 receptor ligand activity
GO:0048146 positive regulation of fibroblast proliferation
GO:0048664 neuron fate determination
GO:0051091 positive regulation of DNA-binding transcription factor activity
GO:0060061 Spemann organizer formation
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060348 bone development
GO:0061184 positive regulation of dermatome development
GO:0070062 extracellular exosome
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:1903204 negative regulation of oxidative stress-induced neuron death
GO:1904886 beta-catenin destruction complex disassembly
GO:1904953 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation
GO:1904954 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation
GO:1990403 embryonic brain development
GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process

Diseases

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Disease IDSourceNameDescription
615220 OMIMOsteogenesis imperfecta 15 (OI15)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. The disease is caused by variants affecting the gene represented in this entry.
166710 OMIMOsteoporosis (OSTEOP)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.