ACTL6A - actin like 6A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 86

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18026119	GOA

Biological Process GO Annotation	Evidence	Verweise	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	Verweise	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

0
100
200
300
400
429 a.a.

Protein Preferred Names	Protein Names
actin-like protein 6A	53 kDa BRG1-associated factor A

ACTL6A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ACTL6A	O96019	CCT6B	Homo sapiens	Q92526	Anti Tag CoIP	28514442
Intra	ACTL6A	O96019	CCT6B	Homo sapiens	Q92526	Anti Tag CoIP	33961781
Intra	ACTL6A	O96019	YY1	Homo sapiens	P25490	Density Sedimentation	18026119
Intra	ACTL6A	O96019	YY1	Homo sapiens	P25490	Pull Down	18026119

Cross: Cross-species interaction Intra: Intraspecies interaction

ACTL6A Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82939	ACTL6A Antibody (YA2684)	WB, ICC/IF, IP	Human
HY-P82939A	ACTL6A Antibody (YA2684)(PBS only)	WB, ICC/IF, IP	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00220	ACTL6A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21812	Actl6a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28328	Actl6a Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ACTL6A	NCBI