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Gene : AXIN1 Homo sapiens

Name  ? axin 1 Cytological Location  16p13.3
Brief Description  axin 1
Description  This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
  • synonyms:
  • AXIN1,
  • NM_003502,
  • AF009674,
  • protein phosphatase 1, regulatory subunit 49,
  • PPP1R49,
  • OTTHUMG00000064930,
  • HGNC:903,
  • uc002cgp.3,
  • PPP1R49,
  • AXIN
  • identifiers:
  • 8312,
  • ENSG00000103126,
  • AXIN1

Genome feature

Region: gene ? Length: 67787  
Location: 16:287440-355226 reverse strand Cyto location: 16p13.3


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Function

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40 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

40 Pathways

860 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results