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ACTL6A actin like 6A [ Homo sapiens (human) ]

Gene ID: 86, updated on 1-Jun-2020

Summary

Official Symbol
ACTL6Aprovided by HGNC
Official Full Name
actin like 6Aprovided by HGNC
Primary source
HGNC:HGNC:24124
See related
Ensembl:ENSG00000136518 MIM:604958
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
Arp4; ACTL6; BAF53A; INO80K; ARPN-BETA
Summary
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 36.4), endometrium (RPKM 16.4) and 25 other tissues See more
Orthologs

Genomic context

See ACTL6A in Genome Data Viewer
Location:
3q26.33
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (179562880..179588407)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179280708..179306193)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 Neighboring gene uncharacterized LOC107986157 Neighboring gene mitochondrial ribosomal protein L47 Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 Neighboring gene H3 histone pseudogene 13

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat-activated transcription induces phosphorylation of Baf53 PubMed
tat The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell 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

Potential readthrough

Included gene: MRPL47

Homology

Clone Names

  • MGC5382

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ATP-dependent chromatin remodeling HDA PubMed 
ATP-dependent chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
blastocyst formation IEA
Inferred from Electronic Annotation
more info
 
chromatin remodeling IC
Inferred by Curator
more info
PubMed 
chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
histone H2A acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural retina development IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
spinal cord development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Ino80 complex IDA
Inferred from Direct Assay
more info
PubMed 
NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
SWI/SNF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
npBAF complex IDA
Inferred from Direct Assay
more info
PubMed 
npBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein-containing complex HDA PubMed 

General protein information

Preferred Names
actin-like protein 6A
Names
53 kDa BRG1-associated factor A
BAF complex 53 kDa subunit
BAF53
BRG1-associated factor 53A
INO80 complex subunit K
actin-related protein 4
actin-related protein Baf53a
arpNbeta
hArpN beta

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.

mRNA and Protein(s)

  1. NM_004301.5NP_004292.1  actin-like protein 6A isoform 1

    See identical proteins and their annotated locations for NP_004292.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a), which is also referred to as hArpNbeta/Baf53. Isoform a is found mostly in the nucleus.
    Source sequence(s)
    AC090425, BC036371, DB041143
    Consensus CDS
    CCDS3231.1
    UniProtKB/Swiss-Prot
    O96019
    Related
    ENSP00000397552.2, ENST00000429709.7
    Conserved Domains (1) summary
    pfam00022
    Location:11429
    Actin; Actin
  2. NM_177989.3NP_817126.1  actin-like protein 6A isoform 2

    See identical proteins and their annotated locations for NP_817126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region that results in the use of a downstream start codon, compared to variant 1. Variants 2 and 3 both encode isoform b, which has a shorter N-terminus when compared to isoform a. This variant is also known as Nbeta2 and isoform b is also known as hArpNbetaS. Isoform b is found mostly in the cytoplasm.
    Source sequence(s)
    BC000949, BC036371, DB041143
    Consensus CDS
    CCDS43174.1
    UniProtKB/Swiss-Prot
    O96019
    Related
    ENSP00000394014.2, ENST00000450518.6
    Conserved Domains (1) summary
    pfam00022
    Location:18387
    Actin; Actin
  3. NM_178042.3NP_829888.1  actin-like protein 6A isoform 2

    See identical proteins and their annotated locations for NP_829888.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region that results in the use of a downstream start codon, compared to variant 1. Variants 2 and 3 both encode isoform b, which has a shorter N-terminus when compared to isoform a. This variant is also known as Nbeta3 and isoform b is also known as hArpNbetaS. Isoform b is found mostly in the cytoplasm.
    Source sequence(s)
    AA256726, AB061315, AC090425, BC036371, DB041143
    Consensus CDS
    CCDS43174.1
    UniProtKB/Swiss-Prot
    O96019
    Related
    ENSP00000376430.1, ENST00000392662.5
    Conserved Domains (1) summary
    pfam00022
    Location:18387
    Actin; Actin

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    179562880..179588407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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