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    AXIN1 axin 1 [ Homo sapiens (human) ]

    Gene ID: 8312, updated on 6-Sep-2021

    Summary

    Official Symbol
    AXIN1provided by HGNC
    Official Full Name
    axin 1provided by HGNC
    Primary source
    HGNC:HGNC:903
    See related
    Ensembl:ENSG00000103126 MIM:603816
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AXIN; PPP1R49
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.6), colon (RPKM 4.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See AXIN1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (287440..355226, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (337440..402723, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Rho GDP dissociation inhibitor gamma Neighboring gene protein disulfide isomerase family A member 2 Neighboring gene Sharpr-MPRA regulatory region 4309 Neighboring gene mitochondrial ribosomal protein L28 Neighboring gene post-glycosylphosphatidylinositol attachment to proteins 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Caudal duplication anomaly
    MedGen: C1842884 OMIM: 607864 GeneReviews: Not available
    Compare labs
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    GeneReviews: Not available
    Hepatocellular carcinoma
    MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of axin1 by siRNAs significantly enhances HIV-1 replication in human acute monocytic leukemia cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Axin1 regulates HIV-1 Tat-mediated transcription, which requires beta-catenin and TCF4 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC52315

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables armadillo repeat domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables signaling adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables signaling receptor complex adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of peptidyl-serine phosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of peptidyl-threonine phosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of beta-catenin destruction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    axin-1
    Names
    axis inhibition protein 1
    axis inhibitor 1
    fused, mouse, homolog of
    protein phosphatase 1, regulatory subunit 49

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012267.1 RefSeqGene

      Range
      4742..70025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003502.4NP_003493.1  axin-1 isoform a

      See identical proteins and their annotated locations for NP_003493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a). An upstream in-frame AUG is present that could extend the N-terminus of this isoform by 49 aa; however, there is no evidence that the upstream AUG is used, so the shorter N-terminus is being annotated.
      Source sequence(s)
      AC005202, AF009674, BC035872, DB460285, Z69667, Z99754
      Consensus CDS
      CCDS10405.1
      UniProtKB/Swiss-Prot
      O15169
      UniProtKB/TrEMBL
      A0A0S2Z4R0
      Related
      ENSP00000262320.3, ENST00000262320.8
      Conserved Domains (4) summary
      cd08707
      Location:89209
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      cd11582
      Location:1180
      Axin_TNKS_binding; Tankyrase binding N-terminal segment of axin
      pfam00778
      Location:782857
      DIX; DIX domain
      pfam08833
      Location:464520
      Axin_b-cat_bind; Axin beta-catenin binding domain
    2. NM_181050.3NP_851393.1  axin-1 isoform b

      See identical proteins and their annotated locations for NP_851393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform b) is shorter, compared to isoform a. An upstream in-frame AUG is present that could extend the N-terminus of this isoform by 49 aa; however, there is no evidence that the upstream AUG is used, so the shorter N-terminus is being annotated.
      Source sequence(s)
      AC005202, BC035872, BC044648, DB460285, Z69667
      Consensus CDS
      CCDS10406.1
      UniProtKB/Swiss-Prot
      O15169
      UniProtKB/TrEMBL
      A0A0S2Z4S3
      Related
      ENSP00000346935.3, ENST00000354866.7
      Conserved Domains (4) summary
      cd08707
      Location:89209
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      cd11582
      Location:1180
      Axin_TNKS_binding; Tankyrase binding N-terminal segment of axin
      pfam00778
      Location:746821
      DIX; DIX domain
      pfam08833
      Location:464520
      Axin_b-cat_bind; Axin beta-catenin binding domain

    RNA

    1. NR_134879.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005202, BC035872, KF615852

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      287440..355226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522684.2XP_011520986.1  axin-1 isoform X5

      Conserved Domains (4) summary
      cd08707
      Location:89209
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      cd11582
      Location:1180
      Axin_TNKS_binding; Tankyrase binding N-terminal segment of axin
      pfam00778
      Location:787862
      DIX; DIX domain
      pfam08833
      Location:469525
      Axin_b-cat_bind; Axin beta-catenin binding domain
    2. XM_011522682.2XP_011520984.1  axin-1 isoform X1

      Conserved Domains (4) summary
      cd08707
      Location:138258
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      cd11582
      Location:60129
      Axin_TNKS_binding; Tankyrase binding N-terminal segment of axin
      pfam00778
      Location:836911
      DIX; DIX domain
      pfam08833
      Location:518574
      Axin_b-cat_bind; Axin beta-catenin binding domain
    3. XM_011522683.2XP_011520985.1  axin-1 isoform X3

      Conserved Domains (4) summary
      cd08707
      Location:138258
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      cd11582
      Location:60129
      Axin_TNKS_binding; Tankyrase binding N-terminal segment of axin
      pfam00778
      Location:800875
      DIX; DIX domain
      pfam08833
      Location:518574
      Axin_b-cat_bind; Axin beta-catenin binding domain
    4. XM_017023745.2XP_016879234.1  axin-1 isoform X6

    5. XM_011522686.1XP_011520988.1  axin-1 isoform X7

      Conserved Domains (2) summary
      pfam00778
      Location:501576
      DIX; DIX domain
      pfam08833
      Location:183239
      Axin_b-cat_bind; Axin beta-catenin binding domain
    6. XM_017023746.1XP_016879235.1  axin-1 isoform X8

      Conserved Domains (2) summary
      pfam00778
      Location:432507
      DIX; DIX domain
      pfam08833
      Location:114170
      Axin_b-cat_bind; Axin beta-catenin binding domain
    7. XM_017023747.1XP_016879236.1  axin-1 isoform X9

    8. XM_017023748.1XP_016879237.1  axin-1 isoform X10

    RNA

    1. XR_001751996.1 RNA Sequence

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