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AXIN1 axin 1 [ Homo sapiens (human) ]

Gene ID: 8312, updated on 14-Nov-2024

Summary

Official Symbol
AXIN1provided by HGNC
Official Full Name
axin 1provided by HGNC
Primary source
HGNC:HGNC:903
See related
Ensembl:ENSG00000103126 MIM:603816; AllianceGenome:HGNC:903
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; CMDOH; 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:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (287440..352723, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (282313..347596, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr16:330732-331489 Neighboring gene Rho GDP dissociation inhibitor gamma Neighboring gene protein disulfide isomerase family A member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:359414-359928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:359929-360443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:366745-367498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:367499-368250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:368251-369004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:374949-375556 Neighboring gene Sharpr-MPRA regulatory region 4309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:389458-390182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:391465-392016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:410874-411722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:411723-412570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:413199-413706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:413707-414213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:414214-414720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:422268-422839 Neighboring gene mitochondrial ribosomal protein L28 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:431071-431970 Neighboring gene post-GPI attachment to proteins 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6916 Neighboring gene uncharacterized LOC100134368 Neighboring gene ribosomal protein L23a pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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
MedGen: C1842884 OMIM: 607864 GeneReviews: Not available
Compare labs
Craniometadiaphyseal osteosclerosis with hip dysplasia
MedGen: C5882710 OMIM: 620558 GeneReviews: Not available
not available
Hepatocellular carcinoma
MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog

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

Clone Names

  • MGC52315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables I-SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables I-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables R-SMAD binding IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
enables beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables p53 binding IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein serine/threonine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling adaptor activity TAS
Traceable Author Statement
more info
PubMed 
enables ubiquitin protein ligase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin-like ligase-substrate adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
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 axial mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
involved_in beta-catenin destruction complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cytoplasmic microtubule organization IEA
Inferred from Electronic Annotation
more info
 
involved_in dorsal/ventral axis specification IEA
Inferred from Electronic Annotation
more info
 
involved_in epigenetic programming in the zygotic pronuclei IEA
Inferred from Electronic Annotation
more info
 
involved_in head development IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
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 negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription elongation by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleocytoplasmic transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of JNK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protein polyubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of Wnt signalosome IEA
Inferred from Electronic Annotation
more info
 
part_of beta-catenin destruction complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of beta-catenin destruction complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of beta-catenin destruction complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
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 microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

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, Q4TT26, Q4TT27, Q86YA7, Q8WVW6, Q96S28
    UniProtKB/TrEMBL
    A0A0S2Z4M1, 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/TrEMBL
    A0A0S2Z4M1, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    287440..352723 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522683.3XP_011520985.1  axin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4M1
    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
  2. XM_011522682.3XP_011520984.1  axin-1 isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z4M1
    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_017023745.3XP_016879234.1  axin-1 isoform X3

  4. XM_047434732.1XP_047290688.1  axin-1 isoform X6

  5. XM_047434731.1XP_047290687.1  axin-1 isoform X5

  6. XM_011522686.1XP_011520988.1  axin-1 isoform X4

    Conserved Domains (2) summary
    pfam00778
    Location:501576
    DIX; DIX domain
    pfam08833
    Location:183239
    Axin_b-cat_bind; Axin beta-catenin binding domain
  7. XM_017023746.2XP_016879235.1  axin-1 isoform X7

    Conserved Domains (2) summary
    pfam00778
    Location:432507
    DIX; DIX domain
    pfam08833
    Location:114170
    Axin_b-cat_bind; Axin beta-catenin binding domain
  8. XM_017023747.2XP_016879236.1  axin-1 isoform X8

  9. XM_017023748.2XP_016879237.1  axin-1 isoform X9

RNA

  1. XR_001751996.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    282313..347596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314079.1XP_054170054.1  axin-1 isoform X11

  2. XM_054314078.1XP_054170053.1  axin-1 isoform X10

  3. XM_054314082.1XP_054170057.1  axin-1 isoform X6

  4. XM_054314081.1XP_054170056.1  axin-1 isoform X5

  5. XM_054314080.1XP_054170055.1  axin-1 isoform X4

  6. XM_054314083.1XP_054170058.1  axin-1 isoform X7