ACTL6A (actin like 6A)

2011-06-01  

Identity

HGNC
ACTL6A
LOCATION
3q26.33
LOCUSID
86
ALIAS
ACTL6,ARPN-BETA,Arp4,BAF53A,INO80K
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 86
MIM: 604958
HGNC: 24124
Ensembl: ENSG00000136518

Variants:

dbSNP: 86
ClinVar: 86
TCGA: ENSG00000136518
COSMIC: ACTL6A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136518ENST00000392662O96019
ENSG00000136518ENST00000429709O96019
ENSG00000136518ENST00000450518O96019
ENSG00000136518ENST00000487978H7C5S0
ENSG00000136518ENST00000490364C9JQT2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DNA RepairREACTOMER-HSA-73894
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
RMTs methylate histone argininesREACTOMER-HSA-3214858
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
DNA Damage Recognition in GG-NERREACTOMER-HSA-5696394
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
280418412017ACTL6A Is Co-Amplified with p63 in Squamous Cell Carcinoma to Drive YAP Activation, Regenerative Proliferation, and Poor Prognosis.49
233954442013ACTL6a enforces the epidermal progenitor state by suppressing SWI/SNF-dependent induction of KLF4.41
266986462016Actin-like 6A predicts poor prognosis of hepatocellular carcinoma and promotes metastasis and epithelial-mesenchymal transition.30
237283442014Failure to downregulate the BAF53a subunit of the SWI/SNF chromatin remodeling complex contributes to the differentiation block in rhabdomyosarcoma.23
216999042011Varying modulation of HIV-1 LTR activity by Baf complexes.22
225738252012Heterocomplex formation by Arp4 and β-actin is involved in the integrity of the Brg1 chromatin remodeling complex.15
286497822017Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.8
297250632018Actin like-6A promotes glioma progression through stabilization of transcriptional regulators YAP/TAZ.7
145038492003Cytoplasmic localization and nucleo-cytoplasmic shuttling of BAF53, a component of chromatin-modifying complexes.6
282600902017Actin-like protein 6A is a novel prognostic indicator promoting invasion and metastasis in osteosarcoma.4

Citation

Dessen P

ACTL6A (actin like 6A)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52255/actl6a