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    ACTR6 actin related protein 6 [ Homo sapiens (human) ]

    Gene ID: 64431, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ACTR6provided by HGNC
    Official Full Name
    actin related protein 6provided by HGNC
    Primary source
    HGNC:HGNC:24025
    See related
    Ensembl:ENSG00000075089 MIM:619729; AllianceGenome:HGNC:24025
    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
    ARP6; CDA12; hARP6; hARPX; HSPC281; MSTP136
    Summary
    Predicted to enable nucleosome binding activity. Predicted to be involved in histone exchange. Predicted to be located in nucleus. Predicted to be part of Swr1 complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 10.9), testis (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACTR6 in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (100200815..100224424)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (100162055..100185664)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (100594593..100618202)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:100556980-100557712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100559806-100560306 Neighboring gene RNA, 7SL, cytoplasmic 176, pseudogene Neighboring gene GOLGA2 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4764 Neighboring gene Sharpr-MPRA regulatory region 7946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:100595701-100596388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100596389-100597074 Neighboring gene microRNA 1827 Neighboring gene DEP domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4766 Neighboring gene MPRA-validated peak1911 silencer Neighboring gene SCY1 like pseudokinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:100688535-100689176 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:100689177-100689817 Neighboring gene Sharpr-MPRA regulatory region 7724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6859 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:100724514-100724735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100750302-100750802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100750803-100751303 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:100766477-100767226 Neighboring gene solute carrier family 17 member 8 Neighboring gene small nucleolar RNA U13

    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. The actin family protein ARP6 contributes to the structure and the function of the nucleolus. Kitamura H, et al. Biochem Biophys Res Commun, 2015 Aug 21. PMID 26164235, Free PMC Article
    2. Vertebrate Arp6, a novel nuclear actin-related protein, interacts with heterochromatin protein 1. Ohfuchi E, et al. Eur J Cell Biol, 2006 May. PMID 16487625
    3. Novel actin-related proteins in vertebrates: similarities of structure and expression pattern to Arp6 localized on Drosophila heterochromatin. Kato M, et al. Gene, 2001 May 2. PMID 11368909
    4. Essential role of p18Hamlet/SRCAP-mediated histone H2A.Z chromatin incorporation in muscle differentiation. Cuadrado A, et al. EMBO J, 2010 Jun 16. PMID 20473270, Free PMC Article
    5. Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes. Ruhl DD, et al. Biochemistry, 2006 May 2. PMID 16634648

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13433

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nucleolus organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Swr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nucleosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    actin-related protein 6
    Names
    ARP6 actin related protein 6 homolog

    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_022496.5 → NP_071941.1  actin-related protein 6

      See identical proteins and their annotated locations for NP_071941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a protein of 396aa.
      Source sequence(s)
      AB038229, AK124075
      Consensus CDS
      CCDS9074.1
      UniProtKB/Swiss-Prot
      B3KW37, B4DLG9, Q53GH2, Q9BY39, Q9GZN1, Q9H8H6
      Related
      ENSP00000188312.2, ENST00000188312.7
      Conserved Domains (1) summary
      smart00268
      Location:2 → 394
      ACTIN; Actin

    RNA

    1. NR_048568.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site at the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region and is likely a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC050679, DB022992
      Related
      ENST00000546902.5

    2. NR_048569.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region and is likely a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB038229, AK023684, DB022992
      Related
      ENST00000548180.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      100200815..100224424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      100162055..100185664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZN1.1 GenPept UniProtKB/Swiss-Prot:Q9GZN1

    Gene LinkOut

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

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