2. Gene
  3. ACTL6A - actin like 6A Gene

ACTL6A - actin like 6A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as Arp4; ACTL6; BAF53A; INO80K; SMARCN1; ARPN-BETA

Gene ID: 86 | Gene type: protein coding

About ACTL6A

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:179,562,926-179,588,407 (from NCBI)

This gene has 14 transcripts (splice variants), 216 orthologues, 26 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 36.4), endometrium (RPKM 16.4) and 25 other tissues.

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]

ACTL6A Products(3)

mRNA Protein Name
NM_004301.5 NP_004292.1 actin-like protein 6A isoform 1
NM_177989.4 NP_817126.1 actin-like protein 6A isoform 2
NM_178042.4 NP_829888.1 actin-like protein 6A isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
18026119 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chromatin remodeling IDA
IDA: Inferred from direct assay
11726552 GOA
involved in neural retina development IEP
IEP: Inferred from expression pattern
18816825 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
27641337 GOA
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
27153538 GOA
involved in regulation of DNA replication IMP
IMP: Inferred from mutant phenotype
25016522 GOA
involved in regulation of DNA strand elongation IMP
IMP: Inferred from mutant phenotype
25016522 GOA
involved in regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
26340092 GOA
involved in regulation of chromosome organization IMP
IMP: Inferred from mutant phenotype
26340092 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Ino80 complex IDA
IDA: Inferred from direct assay
18026119 GOA
part of NuA4 histone acetyltransferase complex IDA
IDA: Inferred from direct assay
10966108 GOA
part of SWI/SNF complex IDA
IDA: Inferred from direct assay
8804307 GOA
part of npBAF complex IDA
IDA: Inferred from direct assay
18816825 GOA
part of nucleosome IDA
IDA: Inferred from direct assay
27153538 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18026119 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTL6A Protein Structure

Actin

Actin: Actin (8 - 428)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 429 a.a.
Protein Preferred Names Protein Names

actin-like protein 6A

53 kDa BRG1-associated factor A

Related Diseases

Diseases Alias
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Torticollis

Contracture Of Neck

Wry Neck

Wry Neck/Torticollis
Umbilical Hernia

Hernia, Umbilical
Syncope
Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]
Interatrial Communication

Asd

Atrial Septal Defect

Interauricular Communication
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Bod Syndrome

Brachymorphism Onychodysplasia Dysphalangism Syndrome

Senior Syndrome
Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease
Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12
Developmental And Epileptic Encephalopathy 76

DEE76

Epileptic Encephalopathy, Early Infantile, 76

Eiee76

Decam

Developmental And Epileptic Encephalopathy, 76

Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, And Abnormal Myelination

Developmental Delay, Epileptic Endephalopathy, Cerebral Atrophy, And Abnormal Myelination

Early Infantile Epileptic Encephalopathy 76
Clark-Baraitser Syndrome

CLABARS

Baraitser Syndrome

Autosomal Dominant Intellectual Disability 49

Mental Retardation, Autosomal Dominant 49, Formerly

Mrd49, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 49

Autosomal Dominant Mental Retardation 49

Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

Mrd49

Progeria Short Stature Pigmented Nevi
Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation

Autosomal Dominant Non-Syndromic Mental Retardation

Autosomal Dominant Non-Syndromic Intellectual Disability

Mental Retardation, Autosomal Dominant
Neurilemmomatosis

Schwannomatosis

Neurofibromatosis Type 3

Nf3

Neurilemmomatosis Congenital Cutaneous

Neurinomatosis

Congenital Cutaneous Neurilemmomatosis

Multiple Neurilemmomas

Multiple Schwannomas

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis 1

Neurofibromatosis 3

Mixed Central And Peripheral Neurofibromatosis

Nf3 - [Neurofibromatosis Type 3]
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00220 ACTL6A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ACTL6A VGNC VGNC:59545
Mus musculus ACTL6A MGD MGI:1861453
Rattus norvegicus ACTL6A RGD RGD:1307747
Canis familiaris ACTL6A VGNC VGNC:37542
Bos taurus ACTL6A VGNC VGNC:25575
Macaca mulatta ACTL6A VGNC VGNC:69524