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AXIN1 axin 1 [ Homo sapiens (human) ]

Gene ID: 8312, updated on 26-Apr-2020

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

Genomic context

See AXIN1 in Genome Data Viewer
Location:
16p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (287440..355226, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (337440..405244, 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
Hepatocellular carcinoma
MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Homology

Clone Names

  • MGC52315

Gene Ontology Provided by GOA

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

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.

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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