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Aliases for AXIN1 Gene

Aliases for AXIN1 Gene

  • Axin 1 2 3
  • AXIN 3 4 6
  • Axis Inhibition Protein 1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 49 3
  • Fused, Mouse, Homolog Of 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 49 2
  • Axis Inhibitor 1 3
  • PPP1R49 3
  • Axin-1 3
  • HAxin 4

External Ids for AXIN1 Gene

Previous GeneCards Identifiers for AXIN1 Gene

  • GC16M000356
  • GC16M000277

Summaries for AXIN1 Gene

Entrez Gene Summary for AXIN1 Gene

  • 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. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for AXIN1 Gene

AXIN1 (Axin 1) is a Protein Coding gene. Diseases associated with AXIN1 include hepatocellular carcinoma and caudal duplication anomaly. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is AXIN2.

UniProtKB/Swiss-Prot for AXIN1 Gene

  • 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.

Gene Wiki entry for AXIN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AXIN1 Gene

Genomics for AXIN1 Gene

Regulatory Elements for AXIN1 Gene

Genomic Location for AXIN1 Gene

Start:
287,440 bp from pter
End:
355,241 bp from pter
Size:
67,802 bases
Orientation:
Minus strand

Genomic View for AXIN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AXIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AXIN1 Gene

Proteins for AXIN1 Gene

  • Protein details for AXIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15169-AXIN1_HUMAN
    Recommended name:
    Axin-1
    Protein Accession:
    O15169
    Secondary Accessions:
    • Q4TT26
    • Q4TT27
    • Q86YA7
    • Q8WVW6
    • Q96S28

    Protein attributes for AXIN1 Gene

    Size:
    862 amino acids
    Molecular mass:
    95635 Da
    Quaternary structure:
    • Homodimer. Interacts with ZBED3; the interaction is direct, enhanced by protein kinase GSK3B and casein kinase CSNK1E activities and decreases GSK3B-induced beta-catenin serine and threonine phosphorylations (By similarity). Component of the beta-catenin destruction complex, containing at least, CTNNB1, an axin and GSK3B, that regulates CTNNB1 protein levels through phosphorylation and ubiquitination. Interacts with CTNNB1 (via the armadillo repeats 2-7). Interacts with GSK3B; the interaction hyperphosphorylates CTNNB1 leading to its ubiquitination and destruction. Component of the AXIN1-HIPK2-TP53 complex. Interacts directly in the complex with TP53 and HIPK2. Interacts with DAXX; the interaction stimulates the interaction of DAXX with TP53, stimulates Ser-46 phosphorylation of TP53 and induces cell death on UV irradiation. Also binds APC, SMAD6, SMAD7 and RNF111. Interacts with DIXDC1; prevents interaction with MAP3K1. Interacts with MAP3K4. Interacts with ANKRD6 and AIDA (By similarity). Interacts with MDFI; the interaction decreases AXIN1-mediated JUN N-terminal kinase (JNK) activation. Interacts with MDFIC; the interaction inhibits beta-cateninin-mediated signaling and AXIN1-mediated JUN N-terminal kinase (JNK) activation. Interacts with LRP5 (via its phosphorylated PPPSP motifs); the interaction is stimulated by WNT1 and GSK3B and activates beta-catenin signaling. Interacts (via the C-terminal) with PPP1CA; the interaction dephosphorylates AXIN1 and regulates interaction with GSK3B. Interacts with PPP2CA; the interaction dephosphorylates AXIN1. Interacts with MACF1 (By similarity). Found in a complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Interacts with TNKS. Interacts with DAB2; the interaction is mutually exclusive with the AXIN1:PPP1CA interaction.
    SequenceCaution:
    • Sequence=AAC51624.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AXIN1 Gene

    Alternative splice isoforms for AXIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AXIN1 Gene

Proteomics data for AXIN1 Gene at MOPED

Post-translational modifications for AXIN1 Gene

  • 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.
  • 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.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AXIN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AXIN1 Gene

Domains for AXIN1 Gene

Gene Families for AXIN1 Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

Suggested Antigen Peptide Sequences for AXIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15169

UniProtKB/Swiss-Prot:

AXIN1_HUMAN :
  • O15169
Domain:
  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
  • Contains 1 DIX domain.
  • Contains 1 RGS domain.
genes like me logo Genes that share domains with AXIN1: view

Function for AXIN1 Gene

Molecular function for AXIN1 Gene

GENATLAS Biochemistry: axin 1,ubiquitously expressed (in mouse),negative regulator of the Wnt signaling pathway,promoting the GSK3B dependent phosphorylation of beta catenin CTNNB1
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for AXIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IEA --
GO:0004871 signal transducer activity IDA 9601641
GO:0005096 GTPase activator activity IBA --
GO:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 10644691
genes like me logo Genes that share ontologies with AXIN1: view
genes like me logo Genes that share phenotypes with AXIN1: view

Animal Models for AXIN1 Gene

MGI Knock Outs for AXIN1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AXIN1 Gene

Localization for AXIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AXIN1 Gene

Cytoplasm. Nucleus. Membrane. Cell membrane. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AXIN1 Gene COMPARTMENTS Subcellular localization image for AXIN1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for AXIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12072559
GO:0005737 cytoplasm IDA 12072559
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005881 cytoplasmic microtubule IBA --
genes like me logo Genes that share ontologies with AXIN1: view

Pathways for AXIN1 Gene

genes like me logo Genes that share pathways with AXIN1: view

Gene Ontology (GO) - Biological Process for AXIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001743 optic placode formation IBA --
GO:0001932 regulation of protein phosphorylation --
GO:0001934 positive regulation of protein phosphorylation IDA 9601641
genes like me logo Genes that share ontologies with AXIN1: view

Compounds for AXIN1 Gene

(1) Drugbank Compounds for AXIN1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1,4-Dithiothreitol
target
genes like me logo Genes that share compounds with AXIN1: view

Transcripts for AXIN1 Gene

Unigene Clusters for AXIN1 Gene

Axin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AXIN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - -
SP2:
SP3:
SP4: - - - -
SP5:
SP6:

Relevant External Links for AXIN1 Gene

GeneLoc Exon Structure for
AXIN1
ECgene alternative splicing isoforms for
AXIN1

Expression for AXIN1 Gene

mRNA expression in normal human tissues for AXIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AXIN1 Gene

SOURCE GeneReport for Unigene cluster for AXIN1 Gene Hs.592082

mRNA Expression by UniProt/SwissProt for AXIN1 Gene

O15169-AXIN1_HUMAN
Tissue specificity: Ubiquitously expressed
genes like me logo Genes that share expressions with AXIN1: view

No data available for mRNA differential expression in normal tissues for AXIN1 Gene

Orthologs for AXIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AXIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AXIN1 35
  • 98.98 (n)
  • 99.39 (a)
AXIN1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AXIN1 35
  • 84.77 (n)
  • 86.42 (a)
AXIN1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AXIN1 35
  • 85.61 (n)
  • 87.59 (a)
AXIN1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Axin1 35
  • 83.64 (n)
  • 87.88 (a)
Axin1 16
Axin1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AXIN1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AXIN1 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Axin1 35
  • 84.06 (n)
  • 88.32 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 73 (a)
OneToMany
AXIN1 35
  • 73.16 (n)
  • 74.94 (a)
AXIN1 36
  • 82 (a)
OneToMany
AXIN1 36
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia AXIN1 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398097 35
tropical clawed frog
(Silurana tropicalis)
Amphibia axin1 35
  • 69.72 (n)
  • 72.04 (a)
zebrafish
(Danio rerio)
Actinopterygii axin1 35
  • 68.13 (n)
  • 67.24 (a)
axin1 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Axn 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for AXIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AXIN1 Gene

ENSEMBL:
Gene Tree for AXIN1 (if available)
TreeFam:
Gene Tree for AXIN1 (if available)

Paralogs for AXIN1 Gene

Paralogs for AXIN1 Gene

Selected SIMAP similar genes for AXIN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AXIN1: view

Variants for AXIN1 Gene

Sequence variations from dbSNP and Humsavar for AXIN1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs169954 -- 304,649(-) ACCGA(A/G)GCAGG intron-variant
rs169955 -- 302,992(-) cccag(A/G)tattc intron-variant
rs214237 -- 310,690(+) gccac(A/G)gcgcc intron-variant
rs214238 -- 305,314(-) aaaaa(A/T)ttttg intron-variant
rs214239 -- 303,625(-) gcggg(C/T)ggatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AXIN1 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2458n71 CNV Loss 21882294
nsv904652 CNV Loss 21882294
dgv32n68 CNV Loss 17160897
dgv2465n71 CNV Loss 21882294
dgv2466n71 CNV Loss 21882294
nsv904674 CNV Loss 21882294
nsv827477 CNV Gain 20364138
dgv2467n71 CNV Loss 21882294
nsv904677 CNV Loss 21882294
dgv2469n71 CNV Loss 21882294
dgv2470n71 CNV Loss 21882294
nsv904690 CNV Loss 21882294
dgv2471n71 CNV Loss 21882294
dgv2472n71 CNV Loss 21882294
nsv515838 CNV Loss 19592680
nsv9319 CNV Gain 18304495
esv27385 CNV Gain 19812545
dgv2473n71 CNV Loss 21882294
nsv904699 CNV Loss 21882294
nsv904700 CNV Loss 21882294

Relevant External Links for AXIN1 Gene

HapMap Linkage Disequilibrium report
AXIN1
Human Gene Mutation Database (HGMD)
AXIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AXIN1 Gene

Disorders for AXIN1 Gene

(2) OMIM Diseases for AXIN1 Gene (603816)

UniProtKB/Swiss-Prot

AXIN1_HUMAN
  • 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.
  • 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 mutations affecting the gene represented in this entry. Caudal duplication anomaly is associated with hypermethylation of the AXIN1 promoter.

(2) University of Copenhagen DISEASES for AXIN1 Gene

(15) Novoseek inferred disease relationships for AXIN1 Gene

Disease -log(P) Hits PubMed IDs
caudal duplication anomaly 93 2
familial adenomatous polyposis 67.8 3
medulloblastoma 66.6 5
colon cancer 48.2 4
hepatocellular carcinoma 44.6 3

Relevant External Links for AXIN1

Genetic Association Database (GAD)
AXIN1
Human Genome Epidemiology (HuGE) Navigator
AXIN1
genes like me logo Genes that share disorders with AXIN1: view

Publications for AXIN1 Gene

  1. AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. (PMID: 10700176) Satoh S. … Nakamura Y. (Nat. Genet. 2000) 3 4 23
  2. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. (PMID: 15520370) Fearnhead N.S. … Bodmer W.F. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 23 48
  3. Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. (PMID: 16773576) Oates N.A. … Chong S. (Am. J. Hum. Genet. 2006) 3 4 23
  4. Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer. (PMID: 18708403) Wang X. … Couch F.J. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 23 48
  5. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. (PMID: 9230313) Zeng L. … Costantini F. (Cell 1997) 2 3 4

Products for AXIN1 Gene

Sources for AXIN1 Gene

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