| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta- catenin and APC by GSK3B (By similarity). SUBUNIT: Interacts with glycogen synthase kinase-3 beta (GSK3B) and beta-catenin. The interaction between axin and beta-catenin occurs via the armadillo repeats contained in beta-catenin (By similarity). Interacts with SMAD7 and RNF111. Interacts with ANKRD6. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expressed in brain and lymphoblast. DOMAIN: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2 (By similarity). PTM: Probably phosphorylated by GSK3B and dephosphorylated by PP2A (By similarity). PTM: ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP- ribosylated protein is recognized by RNF146, followed by ubiquitination and subsequent activation of the Wnt signaling pathway. PTM: Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt signaling pathway. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin stabilization step: deubiquitination is important Wnt signaling to positively regulate beta-catenin (CTNBB1)-mediated transcription. DISEASE: Defects in AXIN2 are involved in colorectal cancer (CRC) [MIM:114500]. They appear to be specifically associated with defective mismatch repair. DISEASE: Defects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome (ODCRCS) [MIM:608615]. Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. SIMILARITY: Contains 1 DIX domain. SIMILARITY: Contains 1 RGS domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AXIN2ID456ch17q24.html"; GENE SYNONYMS:AXIN2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 843 AA; 93558 MW; F7B62BED6AB4664D CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:904,
urn:biopax:RelationshipXref:NCBI GENE_8313,
urn:biopax:RelationshipXref:REFSEQ_NP_004646,
urn:biopax:UnificationXref:UNIPROT_Q3MJ88,
urn:biopax:UnificationXref:UNIPROT_Q9H3M6,
urn:biopax:UnificationXref:UNIPROT_Q9UH84,
urn:biopax:UnificationXref:UNIPROT_Q9Y2T1
|
| biopax3:displayName |
AXIN2_HUMAN
|
| biopax3:name |
AXIN2,
Axil,
Axin-like protein,
Axis inhibition protein 2,
Conductin
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MSSAMLVTCLPDPSSSFREDAPRPPVPGEEGETPPCQPGVGKGQVTKPMSVSSNTRRNEDGLGEPEGRASPDSPLTRWTKSLHSLLGDQDGAYLFRTFLEREKCVDTLDFWFACNGFRQMNLKDTKTLRVAKAIYKRYIENNSIVSKQLKPATKTYIRDGIKKQQIDSIMFDQAQTEIQSVMEENAYQMFLTSDIYLEYVRSGGENTAYMSNGGLGSLKVVCGYLPTLNEEEEWTCADFKCKLSPTVVGLSSKTLRATASVRSTETVDSGYRSFKRSDPVNPYHIGSGYVFAPATSANDSEISSDALTDDSMSMTDSSVDGIPPYRVGSKKQLQREMHRSVKANGQVSLPHFPRTHRLPKEMTPVEPATFAAELISRLEKLKLELESRHSLEERLQQIREDEEREGSELTLNSREGAPTQHPLSLLPSGSYEEDPQTILDDHLSRVLKTPGCQSPGVGRYSPRSRSPDHHHHHHSQYHSLLPPGGKLPPAAASPGACPLLGGKGFVTKQTTKHVHHHYIHHHAVPKTKEEIEAEATQRVHCFCPGGSEYYCYSKCKSHSKAPETMPSEQFGGSRGSTLPKRNGKGTEPGLALPAREGGAPGGAGALQLPREEGDRSQDVWQWMLESERQSKPKPHSAQSTKKAYPLESARSSPGERASRHHLWGGNSGHPRTTPRAHLFTQDPAMPPLTPPNTLAQLEEACRRLAEVSKPPKQRCCVASQQRDRNHSATVQTGATPFSNPSLAPEDHKEPKKLAGVHALQASELVVTYFFCGEEIPYRRMLKAQSLTLGHFKEQLSKKGNYRYYFKKASDEFACGAVFEEIWEDETVLPMYEGRILGKVERID
|
| biopax3:standardName |
Axin-2
|