ENSG00000103126


Homo sapiens

Features
Gene ID: ENSG00000103126
  
Biological name :AXIN1
  
Synonyms : AXIN1 / O15169
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 287440
Gene end: 352673
  
Corresponding Affymetrix probe sets: 212849_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000346935
Ensembl peptide - ENSP00000416835
Ensembl peptide - ENSP00000262320
NCBI entrez gene - 8312     See in Manteia.
OMIM - 603816
RefSeq - XM_017023746
RefSeq - XM_011522683
RefSeq - XM_011522684
RefSeq - XM_011522686
RefSeq - XM_017023743
RefSeq - XM_017023744
RefSeq - XM_017023745
RefSeq - NM_003502
RefSeq - NM_181050
RefSeq - XM_011522682
RefSeq Peptide - NP_003493
RefSeq Peptide - NP_851393
swissprot - A0A0S2Z4S3
swissprot - H0Y830
swissprot - O15169
swissprot - A0A0S2Z4R0
Ensembl - ENSG00000103126
  
Related genetic diseases (OMIM): 114550 - Hepatocellular carcinoma, somatic, 114550
  607864 - ?Caudal duplication anomaly, 607864
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
 axin1ENSDARG00000102964Danio rerio
 AXIN1ENSGALG00000029402Gallus gallus
 Axin1ENSMUSG00000024182Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AXIN2 / Q9Y2T1ENSG0000016864641


Protein motifs (from Interpro)
Interpro ID Name
 IPR001158  DIX domain
 IPR014936  Axin beta-catenin binding
 IPR016137  RGS domain
 IPR024066  RGS, subdomain 1/3
 IPR029071  Ubiquitin-like domain superfamily
 IPR029797  Axin-1
 IPR032101  Axin-1/2, tankyrase-binding domain
 IPR036305  RGS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001743 optic placode formation IBA
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007257 activation of JUN kinase activity IBA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IBA
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation NAS
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0021797 forebrain anterior/posterior pattern specification IBA
 biological_processGO:0021881 Wnt-activated signaling pathway involved in forebrain neuron fate commitment IBA
 biological_processGO:0030111 regulation of Wnt signaling pathway TAS
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IDA
 biological_processGO:0030910 olfactory placode formation IBA
 biological_processGO:0031122 cytoplasmic microtubule organization IBA
 biological_processGO:0031398 positive regulation of protein ubiquitination NAS
 biological_processGO:0032147 activation of protein kinase activity IDA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation NAS
 biological_processGO:0033146 regulation of intracellular estrogen receptor signaling pathway TAS
 biological_processGO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter IBA
 biological_processGO:0034622 cellular protein-containing complex assembly IDA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0045599 negative regulation of fat cell differentiation IBA
 biological_processGO:0045732 positive regulation of protein catabolic process IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0046330 positive regulation of JNK cascade ISS
 biological_processGO:0048048 embryonic eye morphogenesis IBA
 biological_processGO:0048320 axial mesoderm formation IBA
 biological_processGO:0051443 positive regulation of ubiquitin-protein transferase activity IMP
 biological_processGO:0055001 muscle cell development IBA
 biological_processGO:0060070 canonical Wnt signaling pathway IC
 biological_processGO:0060272 embryonic skeletal joint morphogenesis IBA
 biological_processGO:0060823 canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation IBA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IMP
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway TAS
 biological_processGO:1904885 beta-catenin destruction complex assembly TAS
 biological_processGO:1904886 beta-catenin destruction complex disassembly TAS
 biological_processGO:2000060 positive regulation of ubiquitin-dependent protein catabolic process ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IDA
 cellular_componentGO:0030877 beta-catenin destruction complex IDA
 cellular_componentGO:0031410 cytoplasmic vesicle ISS
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0071944 cell periphery IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IDA
 molecular_functionGO:0005096 GTPase activator activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IDA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding ISS
 molecular_functionGO:0030159 receptor signaling complex scaffold activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0032947 protein-containing complex scaffold activity IMP
 molecular_functionGO:0042802 identical protein binding ISS
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0046332 SMAD binding IPI
 molecular_functionGO:0070016 armadillo repeat domain binding ISS
 molecular_functionGO:0070411 I-SMAD binding IPI


Pathways (from Reactome)
Pathway description
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
TCF dependent signaling in response to WNT
Degradation of AXIN
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin arent phosphorylated
S37 mutants of beta-catenin arent phosphorylated
S45 mutants of beta-catenin arent phosphorylated
T41 mutants of beta-catenin arent phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Ub-specific processing proteases
RUNX1 regulates estrogen receptor mediated transcription
RUNX1 regulates transcription of genes involved in WNT signaling
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000073 Ureteral duplication "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators]
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001413 Micronodular cirrhosis 
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 HP:0001425 Heterogeneous 
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 HP:0001428 Somatic mutation 
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 HP:0003762 Uterus didelphys 
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 HP:0006572 Subacute progressive viral hepatitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / reaction / complex
 ENSG00000173273 TNKS / O95271 / tankyrase  / complex / reaction
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / reaction / complex
 ENSG00000061492 WNT8A / Q9H1J5 / Wnt family member 8A  / reaction / complex
 ENSG00000118518 Q9NTX7 / RNF146 / ring finger protein 146  / complex / reaction
 ENSG00000157240 FZD1 / Q9UP38 / frizzled class receptor 1  / complex / reaction
 ENSG00000075290 WNT8B / Q93098 / Wnt family member 8B  / reaction / complex
 ENSG00000107854 TNKS2 / Q9H2K2 / tankyrase 2  / reaction / complex
 ENSG00000070018 LRP6 / O75581 / LDL receptor related protein 6  / reaction / complex
 ENSG00000180340 FZD2 / Q14332 / frizzled class receptor 2  / reaction / complex
 ENSG00000107404 DVL1 / O14640 / dishevelled segment polarity protein 1  / complex / reaction
 ENSG00000161202 DVL3 / Q92997 / dishevelled segment polarity protein 3  / complex / reaction
 ENSG00000125084 WNT1 / P04628 / Wnt family member 1  / complex / reaction
 ENSG00000154342 WNT3A / P56704 / Wnt family member 3A  / reaction / complex
 ENSG00000082701 GSK3B / P49841 / glycogen synthase kinase 3 beta  / complex
 ENSG00000115464 USP34 / Q70CQ2 / ubiquitin specific peptidase 34  / reaction






 

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