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Aliases for AXIN1 Gene

Aliases for AXIN1 Gene

  • Axin 1 2 3 5
  • Axis Inhibition Protein 1 3 4
  • AXIN 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
  • 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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 Sertoli-Sertoli Cell Junction Dynamics and Signaling by GPCR. 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

Chromosome:
16
Start:
287,440 bp from pter
End:
361,497 bp from pter
Size:
74,058 bases
Orientation:
Minus strand

Genomic View for AXIN1 Gene

Genes around AXIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AXIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AXIN1 (axin 1)
  • Cloud-Clone Corp. Antibodies for AXIN1

No data available for DME Specific Peptides for AXIN1 Gene

Domains & Families for AXIN1 Gene

Gene Families for AXIN1 Gene

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 :
  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
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:0005515 protein binding IPI 9601641
GO:0008013 beta-catenin binding IDA 10644691
GO:0042803 protein homodimerization activity ISS --
GO:0046332 SMAD binding IPI 18593713
genes like me logo Genes that share ontologies with AXIN1: view
genes like me logo Genes that share phenotypes with AXIN1: view

Human Phenotype Ontology for AXIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AXIN1 Gene

MGI Knock Outs for AXIN1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 (PubMed:17210684). {ECO:0000250 UniProtKB:O35625, ECO:0000269 PubMed:17210684}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AXIN1 Gene COMPARTMENTS Subcellular localization image for AXIN1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 4
extracellular 1

Gene Ontology (GO) - Cellular Components for AXIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005881 cytoplasmic microtubule IBA --
GO:0005938 cell cortex IBA --
GO:0031410 cytoplasmic vesicle ISS --
GO:0071944 cell periphery IDA 19038973
genes like me logo Genes that share ontologies with AXIN1: view

Pathways & Interactions for AXIN1 Gene

SuperPathways for AXIN1 Gene

Superpath Contained pathways
1 S45 mutants of beta-catenin arent phosphorylated
2 EphB-EphrinB Signaling
3 Wnt Signaling Pathway (WikiPathways)
4 Sertoli-Sertoli Cell Junction Dynamics
5 Human Embryonic Stem Cell Pluripotency
genes like me logo Genes that share pathways with AXIN1: view

SIGNOR curated interactions for AXIN1 Gene

Gene Ontology (GO) - Biological Process for AXIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001743 optic placode formation IBA --
GO:0006915 apoptotic process IEA --
GO:0007257 activation of JUN kinase activity IBA --
GO:0007368 determination of left/right symmetry IBA --
GO:0008219 cell death IBA --
genes like me logo Genes that share ontologies with AXIN1: view

Drugs & Compounds for AXIN1 Gene

(1) Drugs for AXIN1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1,4-Dithiothreitol Experimental Pharma Target 0
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

Protein differential expression in normal tissues from HIPED for AXIN1 Gene

This gene is overexpressed in Urinary Bladder (40.7), Platelet (9.6), and Heart (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AXIN1: view

Protein tissue co-expression partners for AXIN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia AXIN1 35
  • 98.98 (n)
  • 99.39 (a)
AXIN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Axin1 35
  • 84.06 (n)
  • 88.32 (a)
oppossum
(Monodelphis domestica)
Mammalia AXIN1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AXIN1 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves AXIN1 35
  • 73.16 (n)
  • 74.94 (a)
-- 36
  • 73 (a)
OneToMany
AXIN1 36
  • 82 (a)
OneToMany
AXIN1 36
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia AXIN1 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia axin1 35
  • 69.72 (n)
  • 72.04 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398097 35
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

(4) 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
VAR_015589 Hepatocellular carcinoma (HCC)
VAR_015590 Hepatocellular carcinoma (HCC)
rs116350678 Hepatocellular carcinoma (HCC) 298,233(+) ATCGC(C/T)GTCCT reference, missense
rs117208012 Hepatocellular carcinoma (HCC) 297,063(+) GTGGC(C/T)GGTCC reference, missense
rs34015754 - 288,189(-) GGTTC(A/G)AGAGG reference, missense

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

Variation tolerance for AXIN1 Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.06% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(9) MalaCards diseases for AXIN1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
caudal duplication anomaly
  • caudal duplication
embryonal sarcoma
  • undifferentiated sarcoma
familial adenomatous polyposis
  • adenomatous polyposis coli
pulmonary sclerosing hemangioma
  • pneumocytoma
- elite association - COSMIC cancer census association via MalaCards
Search AXIN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AXIN1_HUMAN
  • 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.
  • 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.

Relevant External Links for AXIN1

Genetic Association Database (GAD)
AXIN1
Human Genome Epidemiology (HuGE) Navigator
AXIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AXIN1
genes like me logo Genes that share disorders with AXIN1: view

No data available for Genatlas for AXIN1 Gene

Publications for AXIN1 Gene

  1. 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 67
  2. Changes of AXIN-1 and beta-catenin in neuroepithelial brain tumors. (PMID: 19633924) Nikuseva MartiA8 T. … Zeljko M. (Pathol. Oncol. Res. 2010) 3 23
  3. Mutations in the AXIN1 gene in advanced prostate cancer. (PMID: 18514389) Yardy G.W. … Bodmer W.F. (Eur. Urol. 2009) 3 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
  5. Genetic alterations of Wnt signaling pathway-associated genes in hepatocellular carcinoma. (PMID: 18171349) Kim Y.D. … Lee J.H. (J. Gastroenterol. Hepatol. 2008) 3 23

Products for AXIN1 Gene

Sources for AXIN1 Gene

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