AXIN1
entrez
8312
canonical
uniprot
O15169
canonical
ensembl
ENSG00000103126
resolver
ensp
ENSP00000262320
resolver
ensp
ENSP00000346935
resolver
ensp
ENSP00000581743
resolver
ensp
ENSP00000627984
resolver
genesymbol
AXIN1
resolver
genesymbol_syn
AXIN
resolver
hgnc
HGNC:903
resolver
uniprot
A0A0S2Z4R0
resolver
uniprot
A0A0S2Z4S3
resolver
uniprot
Q4TT26
resolver
uniprot
Q4TT27
resolver
uniprot
Q86YA7
resolver
uniprot
Q8WVW6
resolver
uniprot
Q96S28
resolver
uniprot_entry
A0A0S2Z4R0_HUMAN
resolver
uniprot_entry
A0A0S2Z4S3_HUMAN
resolver
uniprot_entry
AXIN1_HUMAN
resolver
uniprot_sec
Q4TT26
resolver
uniprot_sec
Q4TT27
resolver
uniprot_sec
Q86YA7
resolver
uniprot_sec
Q8WVW6
resolver
uniprot_sec
Q96S28
resolver
amino_acid_sequence
MNIQEQGFPLDLGASFTEDAPRPPVPGEEGELVSTDPRPASYSFCSGKGVGIKGETSTATPRRSDLDLGYEPEGSASPTPPYLKWAESLHSLLDDQDGISLFRTFLKQEGCADLLDFWFACTGFRKLEPCDSNEEKRLKLARAIYRKYILDNNGIVSRQTKPATKSFIKGCIMKQLIDPAMFDQAQTEIQATMEENTYPSFLKSDIYLEYTRTGSESPKVCSDQSSGSGTGKGISGYLPTLNEDEEWKCDQDMDEDDGRDAAPPGRLPQKLLLETAAPRVSSSRRYSEGREFRYGSWREPVNPYYVNAGYALAPATSANDSEQQSLSSDADTLSLTDSSVDGIPPYRIRKQHRREMQESVQVNGRVPLPHIPRTYRVPKEVRVEPQKFAEELIHRLEAVQRTREAEEKLEERLKRVRMEEEGEDGDPSSGPPGPCHKLPPAPAWHHFPPRCVDMGCAGLRDAHEENPESILDEHVQRVLRTPGRQSPGPGHRSPDSGHVAKMPVALGGAASGHGKHVPKSGAKLDAAGLHHHRHVHHHVHHSTARPKEQVEAEATRRAQSSFAWGLEPHSHGARSRGYSESVGAAPNASDGLAHSGKVGVACKRNAKKAESGKSASTEVPGASEDAEKNQKIMQWIIEGEKEISRHRRTGHGSSGTRKPQPHENSRPLSLEHPWAGPQLRTSVQPSHLFIQDPTMPPHPAPNPLTQLEEARRRLEEEEKRASRAPSKQRYVQEVMRRGRACVRPACAPVLHVVPAVSDMELSETETRSQRKVGGGSAQPCDSIVVAYYFCGEPIPYRTLVRGRAVTLGQFKELLTKKGSYRYYFKKVSDEFDCGVVFEEVREDEAVLPVFEEKIIGKVEKVD
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:12101426}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Caudal duplication anomaly (CADUA) [MIM:607864]: A condition characterized by the occurrence of duplications of different organs in the caudal region. {ECO:0000269|PubMed:16773576}. Note=The disease is caused by variants affecting the gene represented in this entry. Caudal duplication anomaly is associated with hypermethylation of the AXIN1 promoter.; DISEASE: Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) [MIM:620558]: An autosomal recessive skeletal dysplasia characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, leading to coarse trabeculae. {ECO:0000269|PubMed:37582359}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453, PubMed:28829046). 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 (PubMed:12192039). In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039). Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7 (PubMed:16601693). Also a component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development (PubMed:17210684). Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation (PubMed:17210684). Activates the AMP-activated protein kinase (AMPK) in response to calorie restriction by acting as a molecular adapter: recruited to late endosome membrane by the V-ATPase complex downstream of TULP3, and mediates association between STK11 and its AMPK substrates PRKAA1 and/or PRKAA2, leading to AMPK activation (By similarity). {ECO:0000250|UniProtKB:O35625, ECO:0000269|PubMed:12192039, ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17210684, ECO:0000269|PubMed:27098453, ECO:0000269|PubMed:28546513}.
uniprot
proteins
mass_dalton
95635
uniprot
proteins
mutagenesis
MUTAGEN 383; /note="V->A: Loss of interaction with SIAH1. Decreased SIAH1-induced proteasome-mediated ubiquitin-dependent degradation of AXIN1. No effect on interaction with GSK3B."; /evidence="ECO:0000269|PubMed:28546513"; MUTAGEN 385; /note="P->A: Loss of interaction with SIAH1. Decreased SIAH1-induced proteasome-mediated ubiquitin-dependent degradation of AXIN1. No effect on interaction with GSK3B."; /evidence="ECO:0000269|PubMed:28546513
uniprot
proteins
post_translational_modification
PTM: Phosphorylation and dephosphorylation of AXIN1 regulates assembly and function of the beta-catenin complex. Phosphorylated by CK1 and GSK3B. Dephosphorylated by PPP1CA and PPP2CA. Phosphorylation by CK1 enhances binding of GSK3B to AXIN1. {ECO:0000269|PubMed:17318175, ECO:0000269|PubMed:9920888}.; PTM: ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination at 'Lys-48' and subsequent activation of the Wnt signaling pathway. {ECO:0000269|PubMed:21383061}.; PTM: Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt signaling pathway. Sumoylation at Lys-857 and Lys-860 prevents ubiquitination and degradation. Sumoylation is required for AXIN1-mediated JNK activation. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin stabilization step: deubiquitination is important for nuclear accumulation during Wnt signaling to positively regulate beta-catenin (CTNBB1)-mediated transcription. Ubiquitination by SIAH1 and SIAH2 induces its proteasomal degradation as part of the activation of the Wnt signaling pathway (PubMed:28546513). {ECO:0000269|PubMed:18632848, ECO:0000269|PubMed:21383061, ECO:0000269|PubMed:28546513}.
uniprot
proteins
pubmed
10700176
uniprot
proteins
pubmed
10811618
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
11336703
uniprot
proteins
pubmed
12101426
uniprot
proteins
pubmed
12192039
uniprot
proteins
pubmed
12554650
uniprot
proteins
pubmed
12805222
uniprot
proteins
pubmed
15262978
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16601693
uniprot
proteins
pubmed
16773576
uniprot
proteins
pubmed
17210684
uniprot
proteins
pubmed
17318175
uniprot
proteins
pubmed
18632848
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19759537
uniprot
proteins
pubmed
21383061
uniprot
proteins
pubmed
21478859
uniprot
proteins
pubmed
21799911
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27098453
uniprot
proteins
pubmed
28546513
uniprot
proteins
pubmed
28829046
uniprot
proteins
pubmed
37582359
uniprot
proteins
pubmed
9230313
uniprot
proteins
pubmed
9920888
uniprot
proteins
sequence_length
862
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16601693}. Nucleus {ECO:0000269|PubMed:17210684}. Membrane {ECO:0000250|UniProtKB:O35625}. Cell membrane {ECO:0000250|UniProtKB:O35625}. Late endosome {ECO:0000250|UniProtKB:O35625}. Note=MACF1 is required for its translocation to cell membrane (By similarity). On UV irradiation, translocates to the nucleus and colocalizes with DAAX (PubMed:17210684). {ECO:0000250|UniProtKB:O35625, ECO:0000269|PubMed:17210684}.
uniprot
proteins