ACTL6A
Actin-like protein 6A
Also known as: ACL6A_HUMAN, Actl6, Arp4, BAF53A, INO80K, SMARCN1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O96019
- Gene
- ACTL6A
- Ensembl
- ENSG00000136518
- Chromosome
- 3
- Canonical length
- 429 aa
- Protein class
- Disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
429 residues, UniProt reviewed canonical sequence.
>O96019|ACTL6A
1 MSGGVYGGDE VGALVFDIGS YTVRAGYAGE DCPKVDFPTA IGMVVERDDG STLMEIDGDK
61 GKQGGPTYYI DTNALRVPRE NMEAISPLKN GMVEDWDSFQ AILDHTYKMH VKSEASLHPV
121 LMSEAPWNTR AKREKLTELM FEHYNIPAFF LCKTAVLTAF ANGRSTGLIL DSGATHTTAI
181 PVHDGYVLQQ GIVKSPLAGD FITMQCRELF QEMNIELVPP YMIASKEAVR EGSPANWKRK
241 EKLPQVTRSW HNYMCNCVIQ DFQASVLQVS DSTYDEQVAA QMPTVHYEFP NGYNCDFGAE
301 RLKIPEGLFD PSNVKGLSGN TMLGVSHVVT TSVGMCDIDI RPGLYGSVIV AGGNTLIQSF
361 TDRLNRELSQ KTPPSMRLKL IANNTTVERR FSSWIGGSIL ASLGTFQQMW ISKQEYEEGG
421 KQCVERKCPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACTL6A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- testis: 58 nTPM
- thymus: 43 nTPM
- tonsil: 39 nTPM
- rectum: 36 nTPM
- ovary: 32 nTPM
- breast: 31 nTPM
Single-cell type
- late primary spermatocytes: 327 nCPM
- oocytes: 309 nCPM
- early primary spermatocytes: 192 nCPM
- differentiating spermatogonia: 123 nCPM
- gastric progenitor cells: 101 nCPM
- extravillous trophoblasts: 87 nCPM
Immune cell
- T-reg: 39 nTPM
- myeloid DC: 34 nTPM
- MAIT T-cell: 32 nTPM
- naive CD8 T-cell: 31 nTPM
- naive CD4 T-cell: 30 nTPM
- non-classical monocyte: 30 nTPM
Brain region
- white matter: 13 nTPM
- choroid plexus: 12 nTPM
- medulla oblongata: 11 nTPM
- cerebellum: 9.7 nTPM
- midbrain: 9.1 nTPM
- basal ganglia: 8.9 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.25
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.94
- DepMap mean gene effect
- -1.59
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 18% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blastocyst formation
- chromatin remodeling
- DNA recombination
- DNA repair
- negative regulation of cell differentiation
- nervous system development
- neural retina development
- positive regulation of cell differentiation
- positive regulation of cell population proliferation
- positive regulation of DNA repair
- positive regulation of DNA-templated transcription
- positive regulation of double-strand break repair
- positive regulation of double-strand break repair via homologous recombination
- positive regulation of myoblast differentiation
- positive regulation of stem cell population maintenance
- positive regulation of T cell differentiation
- positive regulation of telomere maintenance in response to DNA damage
- regulation of apoptotic process
- regulation of cell cycle
- regulation of chromosome organization
- regulation of DNA repair
- regulation of DNA replication
- regulation of DNA strand elongation
- regulation of DNA-templated transcription
- regulation of double-strand break repair
- regulation of embryonic development
- regulation of G0 to G1 transition
- regulation of G1/S transition of mitotic cell cycle
- regulation of mitotic metaphase/anaphase transition
- regulation of nucleotide-excision repair
- regulation of transcription by RNA polymerase II
- signal transduction
- spinal cord development
- telomere maintenance
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ACTL6A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACTL6A as an antibody target. Whether an autoantibody or antibody against ACTL6A could matter depends on whether native ACTL6A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACTL6A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ACTL6A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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