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

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; AllianceGenome:HGNC:24124
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; SMARCN1; 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: mouse all
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Genomic context

Location:: 3q26.33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (179562926..179588407)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (182366765..182392246)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (179280714..179306195)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

High expression of ACTL6A leads to poor prognosis of oral squamous cell carcinoma patients through promoting malignant progression.
Title: High expression of ACTL6A leads to poor prognosis of oral squamous cell carcinoma patients through promoting malignant progression.
Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression.
Title: Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression.
Actin-like Protein 6A Expression Correlates with Cancer Stem Cell-like Features and Poor Prognosis in Ovarian Cancer.
Title: Actin-like Protein 6A Expression Correlates with Cancer Stem Cell-like Features and Poor Prognosis in Ovarian Cancer.
BAF53A drives colorectal cancer development by regulating DUSP5-mediated ERK phosphorylation.
Title: BAF53A drives colorectal cancer development by regulating DUSP5-mediated ERK phosphorylation.
ACTL6A deficiency induces apoptosis through impairing DNA replication and inhibiting the ATR-Chk1 signaling in glioblastoma cells.
Title: ACTL6A deficiency induces apoptosis through impairing DNA replication and inhibiting the ATR-Chk1 signaling in glioblastoma cells.
DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene Transcription.
Title: DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene Transcription.
Increased ACTL6A occupancy within mSWI/SNF chromatin remodelers drives human squamous cell carcinoma.
Title: Increased ACTL6A occupancy within mSWI/SNF chromatin remodelers drives human squamous cell carcinoma.
ACTL6A promotes the growth in non-small cell lung cancer by regulating Hippo/Yap pathway.
Title: ACTL6A promotes the growth in non-small cell lung cancer by regulating Hippo/Yap pathway.
Actin-like 6A enhances the proliferative and invasive capacities of laryngeal squamous cell carcinoma by potentiating the activation of YAP signaling.
Title: Actin-like 6A enhances the proliferative and invasive capacities of laryngeal squamous cell carcinoma by potentiating the activation of YAP signaling.
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.
Title: The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77570 (e-PCR)
- UniSTS:17682

RH123178 (e-PCR)
- UniSTS:135559

STS-N29372 (e-PCR)
- UniSTS:57268

D3S3699 (e-PCR), detects polymorphism
- UniSTS:43474

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to nucleosomal DNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in blastocyst formation	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	HDA more info	PubMed
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IC Inferred by Curator more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural retina development	IEP Inferred from Expression Pattern more info	PubMed
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 DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of T cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myoblast differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of stem cell population maintenance	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of G0 to G1 transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of G1/S transition of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
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 double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of embryonic development	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic metaphase/anaphase transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of nucleotide-excision repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of GBAF complex	NAS Non-traceable Author Statement more info	PubMed
part_of Ino80 complex	IDA Inferred from Direct Assay more info	PubMed
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NuA4 histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of RSC-type complex	NAS Non-traceable Author Statement more info	PubMed
part_of SWI/SNF complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SWI/SNF complex	IDA Inferred from Direct Assay more info	PubMed
part_of SWI/SNF complex	NAS Non-traceable Author Statement more info	PubMed
part_of brahma complex	NAS Non-traceable Author Statement more info	PubMed
located_in chromatin	HDA more info	PubMed
located_in chromatin	NAS Non-traceable Author Statement more info	PubMed
located_in kinetochore	NAS Non-traceable Author Statement more info	PubMed
part_of npBAF complex	IDA Inferred from Direct Assay more info	PubMed
part_of npBAF complex	ISS Inferred from Sequence or Structural Similarity more info
part_of npBAF complex	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear matrix	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of protein-containing complex	HDA more info	PubMed

General protein information

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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)

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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_004301.5 → NP_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

B3KMN1, D3DNR9, O96019, Q8TAE5, Q9BVS8, Q9H0W6

UniProtKB/TrEMBL

Q53FS0

Related

ENSP00000397552.2, ENST00000429709.7

Conserved Domains (1) summary

pfam00022
Location:11 → 429

Actin
NM_177989.4 → NP_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)

AC090425, BC000949, BC036371, DB041143

Consensus CDS

CCDS43174.1

UniProtKB/TrEMBL

Q53FS0

Related

ENSP00000394014.2, ENST00000450518.6

Conserved Domains (1) summary

pfam00022
Location:17 → 387

Actin
NM_178042.4 → NP_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/TrEMBL

Q53FS0

Related

ENSP00000376430.1, ENST00000392662.5

Conserved Domains (1) summary

pfam00022
Location:17 → 387

Actin