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    ACTR8 actin related protein 8 [ Homo sapiens (human) ]

    Gene ID: 93973, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ACTR8provided by HGNC
    Official Full Name
    actin related protein 8provided by HGNC
    Primary source
    HGNC:HGNC:14672
    See related
    Ensembl:ENSG00000113812 MIM:619716; AllianceGenome:HGNC:14672
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARP8; hArp8; INO80N
    Summary
    Predicted to enable ATP binding activity. Predicted to be involved in chromatin remodeling; double-strand break repair; and regulation of transcription, DNA-templated. Located in centrosome and nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p21.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (53858992..53882152, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (53892233..53915392, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53901093..53916179, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 D Neighboring gene uncharacterized LOC124906242 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53750142-53751341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53752305-53752885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53752886-53753466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53765682-53766222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53766223-53766761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53787515-53788014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53798133-53798649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53802933-53803434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53838519-53839320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53840931-53841432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53841433-53841932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53857324-53857923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53878721-53879561 Neighboring gene Sharpr-MPRA regulatory region 239 Neighboring gene choline dehydrogenase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14469 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53925074-53925974 Neighboring gene interleukin 17 receptor B Neighboring gene selenoprotein K Neighboring gene NANOG hESC enhancer GRCh37_chr3:54014583-54015161 Neighboring gene uncharacterized LOC105377095

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. DNA binding properties of the actin-related protein Arp8 and its role in DNA repair. Osakabe A, et al. PLoS One, 2014. PMID 25299602, Free PMC Article
    2. The mammalian INO80 complex is recruited to DNA damage sites in an ARP8 dependent manner. Kashiwaba S, et al. Biochem Biophys Res Commun, 2010 Nov 26. PMID 20971067
    3. The actin-related protein hArp8 accumulates on the mitotic chromosomes and functions in chromosome alignment. Aoyama N, et al. Exp Cell Res, 2008 Feb 15. PMID 18163988
    4. Yin Yang 1 extends the Myc-related transcription factors network in embryonic stem cells. Vella P, et al. Nucleic Acids Res, 2012 Apr. PMID 22210892, Free PMC Article
    5. CHIP and BAP1 Act in Concert to Regulate INO80 Ubiquitination and Stability for DNA Replication. Seo HR, et al. Mol Cells, 2021 Feb 28. PMID 33658435, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plays a regulatory role in the binding of Arp8 to DNA.
      Title: DNA binding properties of the actin-related protein Arp8 and its role in DNA repair.
    2. Binding studies reveal that Arp8 and the Arp8-Arp4-actin-HSA sub-complex of INO80 strongly prefer nucleosomes and H3-H4 tetramers over H2A-H2B dimers, suggesting that Arp8 functions as a nucleosome recognition module.
      Title: Structure of Actin-related protein 8 and its contribution to nucleosome binding.
    3. These results suggest that ARP8 is required for the recruitment of the mammalian INO80 complex to the laser-induced DNA damage sites.
      Title: The mammalian INO80 complex is recruited to DNA damage sites in an ARP8 dependent manner.
    4. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    5. Expression of truncated hArp8 proteins and depletion of endogenous hArp8 by RNA interference caused misalignment of mitotic chromosomes, suggesting that chromosome-associated hArp8 has a role in chromosome behavior.
      Title: The actin-related protein hArp8 accumulates on the mitotic chromosomes and functions in chromosome alignment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12934, FLJ22579

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of telomere maintenance in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA strand elongation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Ino80 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Ino80 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    actin-related protein 8
    Names
    ARP8 actin related protein 8 homolog
    INO80 complex subunit N

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001410774.1 → NP_001397703.1  actin-related protein 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012467
      Consensus CDS
      CCDS93290.1
      Related
      ENSP00000419429.1, ENST00000482349.5

    2. NM_022899.5 → NP_075050.3  actin-related protein 8 isoform 1

      See identical proteins and their annotated locations for NP_075050.3

      Status: VALIDATED

      Source sequence(s)
      AC012467, AK022996
      Consensus CDS
      CCDS2875.1
      UniProtKB/Swiss-Prot
      B3KSW7, Q8N566, Q9H663, Q9H981
      Related
      ENSP00000336842.3, ENST00000335754.8
      Conserved Domains (1) summary
      cl17037
      Location:162 → 619
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      53858992..53882152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265587.6 → XP_005265644.1  actin-related protein 8 isoform X1

      See identical proteins and their annotated locations for XP_005265644.1

      UniProtKB/Swiss-Prot
      B3KSW7, Q8N566, Q9H663, Q9H981
      Conserved Domains (1) summary
      cl17037
      Location:162 → 619
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. XM_047449238.1 → XP_047305194.1  actin-related protein 8 isoform X2

    3. XM_047449239.1 → XP_047305195.1  actin-related protein 8 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      53892233..53915392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348447.1 → XP_054204422.1  actin-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B3KSW7, Q8N566, Q9H663, Q9H981

    2. XM_054348448.1 → XP_054204423.1  actin-related protein 8 isoform X2

    3. XM_054348449.1 → XP_054204424.1  actin-related protein 8 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H981.2 GenPept UniProtKB/Swiss-Prot:Q9H981

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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