Seroatlas · Human Serome Atlas

ACTL6B

Actin-like protein 6B

Also known as: ACL6B_HUMAN, ACTL6, BAF53B, SMARCN2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O94805
Gene
ACTL6B
Ensembl
ENSG00000077080
Chromosome
7
Canonical length
426 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoli rim,Mitotic chromosome

OverviewNCBI Gene

The protein encoded by this gene is a member of a family 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 subunit 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. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

426 residues, UniProt reviewed canonical sequence.

>O94805|ACTL6B
     1  MSGGVYGGDE VGALVFDIGS FSVRAGYAGE DCPKADFPTT VGLLAAEEGG GLELEGDKEK
    61  KGKIFHIDTN ALHVPRDGAE VMSPLKNGMI EDWECFRAIL DHTYSKHVKS EPNLHPVLMS
   121  EAPWNTRAKR EKLTELMFEQ YNIPAFFLCK TAVLTAFANG RSTGLVLDSG ATHTTAIPVH
   181  DGYVLQQGIV KSPLAGDFIS MQCRELFQEM AIDIIPPYMI AAKEPVREGA PPNWKKKEKL
   241  PQVSKSWHNY MCNEVIQDFQ ASVLQVSDSP YDEQVAAQMP TVHYEMPNGY NTDYGAERLR
   301  IPEGLFDPSN VKGLSGNTML GVGHVVTTSI GMCDIDIRPG LYGSVIVTGG NTLLQGFTDR
   361  LNRELSQKTP PSMRLKLIAS NSTMERKFSP WIGGSILASL GTFQQMWISK QEYEEGGKQC
   421  VERKCP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTL6B 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
51 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 51 nTPM
  • cerebral cortex: 40 nTPM
  • basal ganglia: 33 nTPM
  • hypothalamus: 19 nTPM
  • hippocampal formation: 19 nTPM
  • amygdala: 18 nTPM

Single-cell type

  • retinal ganglion cells: 43 nCPM
  • retinal amacrine cells: 40 nCPM
  • brain excitatory neurons: 39 nCPM
  • gonadotrophs: 38 nCPM
  • brain inhibitory neurons: 36 nCPM
  • retinal horizontal cells: 34 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 57 nTPM
  • basal ganglia: 42 nTPM
  • white matter: 37 nTPM
  • cerebellum: 32 nTPM
  • hippocampal formation: 32 nTPM
  • hypothalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTL6B.

Disease | AllUniProt

Conditions ACTL6B is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 76 (DEE76) MIM:618468
  • Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) MIM:618470

Disease | GeneticClinVar

54 pathogenic / likely-pathogenic of 165 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.65
gnomAD pLI
0
gnomAD missense Z
3.27
DepMap mean gene effect
0.16
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ACTL6B as an antibody target. Whether an autoantibody or antibody against ACTL6B could matter depends on whether native ACTL6B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACTL6B 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 ACTL6B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACTL6B. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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