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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14906 (e-PCR)
- UniSTS:6233

RH103404 (e-PCR)
- UniSTS:97730

SHGC-81122 (e-PCR)
- UniSTS:102340

RH99050 (e-PCR)
- UniSTS:88303

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 more info	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)

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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

53858992..53882152 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047449238.1 → XP_047305194.1 actin-related protein 8 isoform X2
XM_047449239.1 → XP_047305195.1 actin-related protein 8 isoform X3