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

ACTL6A - actin like 6A Gene

中文名称:肌动蛋白样 6A

种属: Homo sapiens

同用名: Arp4; ACTL6; BAF53A; INO80K; SMARCN1; ARPN-BETA

基因 ID: 86 | 基因类型: protein coding

关于 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.

功能概要

该基因编码肌动蛋白相关蛋白 (ARP) 家族成员,其与传统肌动蛋白具有显着的氨基酸序列同一性。肌动蛋白和 ARP 都有一个肌动蛋白折叠,这是一个 ATP 结合裂缝,作为一个共同特征。 ARP 参与多种细胞过程,包括囊泡运输、纺锤体定向、核迁移和染色质重塑。该基因编码哺乳动物 BAF (BRG1/brm 相关因子) 复合物的一个 53 kDa 亚基蛋白,其在功能上与酿酒酵母和果蝇中的 SWI/SNF 复合物相关;后者被认为通过拮抗染色质介导的转录抑制来促进特定基因的转录激活。与 β-肌动蛋白一起,BRG1 的最大 ATP 酶活性以及 BAF 复合物与染色质/基质的关联都需要它。已经描述了编码两种不同蛋白质同种型的三种转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18026119 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromatin remodeling IDA
IDA: 通过直接分析推断
11726552 GOA
involved in neural retina development IEP
IEP: 通过表达模式推断
18816825 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
27641337 GOA
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
27153538 GOA
involved in regulation of DNA replication IMP
IMP: 通过突变表型推断
25016522 GOA
involved in regulation of DNA strand elongation IMP
IMP: 通过突变表型推断
25016522 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
26340092 GOA
involved in regulation of chromosome organization IMP
IMP: 通过突变表型推断
26340092 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Ino80 complex IDA
IDA: 通过直接分析推断
18026119 GOA
part of NuA4 histone acetyltransferase complex IDA
IDA: 通过直接分析推断
10966108 GOA
part of SWI/SNF complex IDA
IDA: 通过直接分析推断
8804307 GOA
part of npBAF complex IDA
IDA: 通过直接分析推断
18816825 GOA
part of nucleosome IDA
IDA: 通过直接分析推断
27153538 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18026119 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ACTL6A 蛋白结构

Actin

Actin: Actin (8 - 428)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 429 a.a.
蛋白主名 其他名称

actin-like protein 6A

53 kDa BRG1-associated factor A

ACTL6A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ACTL6A O96019 CCT6B Homo sapiens Q92526 28514442
种属内
ACTL6A O96019 CCT6B Homo sapiens Q92526 33961781
种属内
ACTL6A O96019 YY1 Homo sapiens P25490 18026119
种属内
ACTL6A O96019 YY1 Homo sapiens P25490 18026119
种属间: 跨种属相互作用 种属内: 同种属相互作用

ACTL6A 抗体

目录号 产品名 应用 反应物种
HY-P82939 ACTL6A Antibody (YA2684) WB, ICC/IF, IP Human

关联疾病

疾病名称 别名
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]

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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