ENSG00000125084


Homo sapiens

Features
Gene ID: ENSG00000125084
  
Biological name :WNT1
  
Synonyms : P04628 / WNT1 / Wnt family member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.12
Gene start: 48978453
Gene end: 48981676
  
Corresponding Affymetrix probe sets: 208570_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000293549
Ensembl peptide - ENSP00000481240
NCBI entrez gene - 7471     See in Manteia.
OMIM - 164820
RefSeq - NM_005430
RefSeq Peptide - NP_005421
swissprot - A0A087WXR9
swissprot - P04628
Ensembl - ENSG00000125084
  
Related genetic diseases (OMIM): 615220 - Osteogenesis imperfecta, type XV, 615220
  615221 - {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 wnt1ENSDARG00000055554Danio rerio
 Wnt1ENSMUSG00000022997Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
WNT6 / Q9Y6F9 / Wnt family member 6ENSG0000011559643
WNT4 / P56705 / Wnt family member 4ENSG0000016255242
WNT3 / P56703 / Wnt family member 3ENSG0000010837941
WNT3A / P56704 / Wnt family member 3AENSG0000015434241
WNT2B / Q93097 / Wnt family member 2BENSG0000013424540
WNT2 / P09544 / Wnt family member 2ENSG0000010598939
WNT16 / Q9UBV4 / Wnt family member 16ENSG0000000274536
WNT5A / P41221 / Wnt family member 5AENSG0000011425136
WNT5B / Q9H1J7 / Wnt family member 5BENSG0000011118636
WNT7A / O00755 / Wnt family member 7AENSG0000015476436
WNT7B / P56706 / Wnt family member 7BENSG0000018806435
WNT11 / O96014 / Wnt family member 11ENSG0000008574133


Protein motifs (from Interpro)
Interpro ID Name
 IPR005817  Wnt
 IPR009139  Wnt-1 protein
 IPR018161  Wnt protein, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000578 embryonic axis specification IEA
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IEA
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007520 myoblast fusion IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009611 response to wounding IEP
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010592 positive regulation of lamellipodium assembly IMP
 biological_processGO:0010812 negative regulation of cell-substrate adhesion IDA
 biological_processGO:0014902 myotube differentiation IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0021527 spinal cord association neuron differentiation IEA
 biological_processGO:0021536 diencephalon development IEA
 biological_processGO:0021549 cerebellum development IEA
 biological_processGO:0021551 central nervous system morphogenesis IEA
 biological_processGO:0021588 cerebellum formation IEA
 biological_processGO:0021797 forebrain anterior/posterior pattern specification IEA
 biological_processGO:0022004 midbrain-hindbrain boundary maturation during brain development IEA
 biological_processGO:0022008 neurogenesis IEA
 biological_processGO:0022037 metencephalon development IEA
 biological_processGO:0022408 negative regulation of cell-cell adhesion IMP
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IMP
 biological_processGO:0030579 ubiquitin-dependent SMAD protein catabolic process IEA
 biological_processGO:0030901 midbrain development IEA
 biological_processGO:0030917 midbrain-hindbrain boundary development IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0033278 cell proliferation in midbrain IEA
 biological_processGO:0036520 astrocyte-dopaminergic neuron signaling IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0042770 signal transduction in response to DNA damage IDA
 biological_processGO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway IDA
 biological_processGO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process IMP
 biological_processGO:0045165 cell fate commitment IBA
 biological_processGO:0045596 negative regulation of cell differentiation IEA
 biological_processGO:0045599 negative regulation of fat cell differentiation IEA
 biological_processGO:0045747 positive regulation of Notch signaling pathway IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048146 positive regulation of fibroblast proliferation IMP
 biological_processGO:0048663 neuron fate commitment IEA
 biological_processGO:0048664 neuron fate determination IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0060061 Spemann organizer formation IEA
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:0060348 bone development IMP
 biological_processGO:0061184 positive regulation of dermatome development IDA
 biological_processGO:0070365 hepatocyte differentiation IEA
 biological_processGO:0071375 cellular response to peptide hormone stimulus IEA
 biological_processGO:0071425 hematopoietic stem cell proliferation IEA
 biological_processGO:0071542 dopaminergic neuron differentiation IEA
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IEA
 biological_processGO:0090344 negative regulation of cell aging IDA
 biological_processGO:1903204 negative regulation of oxidative stress-induced neuron death IEA
 biological_processGO:1904886 beta-catenin destruction complex disassembly TAS
 biological_processGO:1904948 midbrain dopaminergic neuron differentiation IEA
 biological_processGO:1904953 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation TAS
 biological_processGO:1904954 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation TAS
 biological_processGO:1990403 embryonic brain development IEA
 biological_processGO:2000059 negative regulation of ubiquitin-dependent protein catabolic process IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0070062 extracellular exosome TAS
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005109 frizzled binding NAS
 molecular_functionGO:0005125 cytokine activity IEA
 molecular_functionGO:0016015 morphogen activity TAS
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0048018 receptor ligand activity NAS


Pathways (from Reactome)
Pathway description
TCF dependent signaling in response to WNT
WNT ligand biogenesis and trafficking
Class B/2 (Secretin family receptors)
Transcriptional regulation of white adipocyte differentiation
PCP/CE pathway
Disassembly of the destruction complex and recruitment of AXIN to the membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000592 Blue sclerae 
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 HP:0000883 Thin ribs 
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 HP:0000926 Platyspondyly 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002953 Vertebral compression fractures 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0012110 Hypoplasia of the pons "Underdevelopment of the `pons` (FMA:67943)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / reaction / complex
 ENSG00000082701 GSK3B / P49841 / glycogen synthase kinase 3 beta  / complex / reaction
 ENSG00000070018 LRP6 / O75581 / LDL receptor related protein 6  / complex / reaction
 ENSG00000103126 AXIN1 / O15169  / reaction / complex
 ENSG00000161202 DVL3 / Q92997 / dishevelled segment polarity protein 3  / reaction / complex
 ENSG00000157240 FZD1 / Q9UP38 / frizzled class receptor 1  / complex / reaction
 ENSG00000155760 FZD7 / O75084 / frizzled class receptor 7  / reaction / complex
 ENSG00000180340 FZD2 / Q14332 / frizzled class receptor 2  / reaction / complex
 ENSG00000107404 DVL1 / O14640 / dishevelled segment polarity protein 1  / complex / reaction






 

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