Homo sapiens Protein: AXIN1
Summary
InnateDB Protein IDBP-7412.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AXIN1
Protein Name axin 1
Synonyms AXIN; PPP1R49;
Species Homo sapiens
Ensembl Protein ENSP00000346935
InnateDB Gene IDBG-7404 (AXIN1)
Protein Structure
UniProt Annotation
Function Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling. Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt- independent JNK signaling pathway. In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B. Likely to function as a tumor suppressor. Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7. Also component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development. {ECO:0000269PubMed:12192039, ECO:0000269PubMed:16601693, ECO:0000269PubMed:17210684}.
Subcellular Localization Cytoplasm. Nucleus. Membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Note=MACF1 is required for its translocation to cell membrane (By similarity). On UV irradiation, translocates to the nucleus and colocalizes with DAAX. {ECO:0000250}.
Disease Associations Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. {ECO:0000269PubMed:12101426}. Note=The gene represented in this entry is involved in disease pathogenesis.Caudal duplication anomaly (CADUA) [MIM:607864]: A condition characterized by the occurrence of duplications of different organs in the caudal region. {ECO:0000269PubMed:16773576}. Note=The disease is caused by mutations affecting the gene represented in this entry. Caudal duplication anomaly is associated with hypermethylation of the AXIN1 promoter.
Tissue Specificity Ubiquitously expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 100 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.
Experimentally validated
Total 100 [view]
Protein-Protein 98 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 33 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004871 signal transducer activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0032947 protein complex scaffold
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046332 SMAD binding
GO:0070016 armadillo repeat domain binding
GO:0070411 I-SMAD binding
Biological Process
GO:0001743 optic placode formation
GO:0001934 positive regulation of protein phosphorylation
GO:0006915 apoptotic process
GO:0007257 activation of JUN kinase activity
GO:0007368 determination of left/right symmetry
GO:0008219 cell death
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0009950 dorsal/ventral axis specification
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0021797 forebrain anterior/posterior pattern specification
GO:0021881 Wnt receptor signaling pathway involved in forebrain neuron fate commitment
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030910 olfactory placode formation
GO:0031122 cytoplasmic microtubule organization
GO:0031398 positive regulation of protein ubiquitination
GO:0032147 activation of protein kinase activity
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0035412 regulation of catenin import into nucleus
GO:0038032 termination of G-protein coupled receptor signaling pathway
GO:0043547 positive regulation of GTPase activity
GO:0043623 cellular protein complex assembly
GO:0045599 negative regulation of fat cell differentiation
GO:0045732 positive regulation of protein catabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046330 positive regulation of JNK cascade
GO:0048048 embryonic eye morphogenesis
GO:0048320 axial mesoderm formation
GO:0051443 positive regulation of ubiquitin-protein transferase activity
GO:0055001 muscle cell development
GO:0060070 canonical Wnt signaling pathway
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060823 canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation
GO:0071407 cellular response to organic cyclic compound
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090244 Wnt signaling pathway involved in somitogenesis
GO:2000060 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005881 cytoplasmic microtubule
GO:0005938 cell cortex
GO:0014069 postsynaptic density
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0016328 lateral plasma membrane
GO:0030877 beta-catenin destruction complex
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm
GO:0071944 cell periphery
Protein Structure and Domains
PDB ID
InterPro IPR000342 Regulator of G protein signalling domain
IPR001158 DIX domain
IPR014936 Axin beta-catenin binding
IPR016137 Regulator of G protein signalling superfamily
PFAM PF00615
PF00778
PF08833
PRINTS PR01301
PIRSF
SMART SM00021
SM00315
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O15169
PhosphoSite PhosphoSite-O15169
TrEMBL
UniProt Splice Variant
Entrez Gene 8312
UniGene Hs.736476
RefSeq NP_851393
HUGO HGNC:903
OMIM 603816
CCDS CCDS10406
HPRD 04819
IMGT
EMBL AC005202 AE006463 AF009674 BC017447 BC044648 Z69667 Z99754
GenPept AAC51624 AAH17447 AAH44648 AAK61224 CAI95589 CAI95590 CAI95600 CAI95601