1. Gene
  2. SMARCA5 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Gene

SMARCA5 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Gene

中文名称:SWI/SNF 相关、基质相关、肌动蛋白依赖性染色质调节因子,a 亚科,成员 5

种属: Homo sapiens

同用名: ISWI; SNF2H; hISWI; hSNF2H; WCRF135

基因 ID: 8467 | 基因类型: protein coding

关于 SMARCA5

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,513,702-143,557,486 (from NCBI)

This gene has 3 transcripts (splice variants), 164 orthologues, 30 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 25.1), lung (RPKM 17.3) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 SWI/SNF 蛋白质家族的成员。该家族的成员具有解旋酶和 ATP 酶活性,被认为通过改变这些基因周围的染色质结构来调节某些基因的转录。该基因编码的蛋白质是染色质重塑和间隔因子 RSF 的一个组成部分,RSF 是 RNA 聚合酶 II 转录 II 类基因的促进因子。编码的蛋白质在序列上与果蝇 ISWI 染色质重塑蛋白相似。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

SMARCA5 基因产物(1)

mRNA Protein Name
NM_003601.4 NP_003592.3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5
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 ATP binding IDA
IDA: 通过直接分析推断
12972596 GOA
enables ATP hydrolysis activity IDA
IDA: 通过直接分析推断
12972596 GOA
enables ATP-dependent chromatin remodeler activity IDA
IDA: 通过直接分析推断
23911928 GOA
enables ATP-dependent chromatin remodeler activity IMP
IMP: 通过突变表型推断
15543136 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
12972596 GOA
contributes to histone binding IDA
IDA: 通过直接分析推断
12972596 GOA
enables histone octamer slider activity IDA
IDA: 通过直接分析推断
9836642 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10655480 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IDA
IDA: 通过直接分析推断
23911928 GOA
involved in DNA-templated transcription initiation IDA
IDA: 通过直接分析推断
9836642 GOA
involved in antiviral innate immune response IDA
IDA: 通过直接分析推断
38114488 GOA
involved in chromatin organization IDA
IDA: 通过直接分析推断
11691835 GOA
involved in chromatin remodeling IDA
IDA: 通过直接分析推断
9836642 GOA
involved in chromatin remodeling IMP
IMP: 通过突变表型推断
15543136 GOA
involved in negative regulation of mitotic chromosome condensation IDA
IDA: 通过直接分析推断
15543136 GOA
involved in negative regulation of mitotic chromosome condensation IMP
IMP: 通过突变表型推断
15543136 GOA
involved in nucleosome assembly EXP
EXP: 通过实验结果推断
11691835 GOA
involved in nucleosome assembly IDA
IDA: 通过直接分析推断
12972596 GOA
involved in positive regulation of DNA replication IMP
IMP: 通过突变表型推断
12434153 GOA
involved in positive regulation of transcription by RNA polymerase III IDA
IDA: 通过直接分析推断
16603771 GOA
involved in regulation of DNA replication IMP
IMP: 通过突变表型推断
12434153 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12972596 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ACF complex IPI
IPI: 通过物理相互作用推断
10655480 GOA
part of B-WICH complex IDA
IDA: 通过直接分析推断
16603771 GOA
part of NURF complex IDA
IDA: 通过直接分析推断
20850016 GOA
part of RSF complex IPI
IPI: 通过物理相互作用推断
9836642 GOA
part of WICH complex IDA
IDA: 通过直接分析推断
16514417 GOA
located in condensed chromosome IDA
IDA: 通过直接分析推断
12972596 GOA
colocalizes with nuclear replication fork IDA
IDA: 通过直接分析推断
15543136 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10655480 GOA
located in pericentric heterochromatin EXP
EXP: 通过实验结果推断
12434153 GOA
is active in site of double-strand break IDA
IDA: 通过直接分析推断
23911928 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

SMARCA5 蛋白结构

DBINO

DBINO: DNA-binding domain (69 - 109)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (183 - 463)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (520 - 597)

HAND

HAND: HAND (743 - 841)

SLIDE

SLIDE: SLIDE (898 - 1012)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1052 a.a.
蛋白主名 其他名称

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5

SMARCA5 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
SMARCA5 O60264 BPTF Homo sapiens Q12830
Anti Tag CoIP
35271311
种属内
SMARCA5 O60264 RSF1 Homo sapiens Q96T23
Anti Bait CoIP
12972596
种属内
SMARCA5 O60264 RSF1 Homo sapiens Q96T23
Anti Tag CoIP
35271311
种属内
SMARCA5 O60264 RSF1 Homo sapiens Q96T23
IF
12972596
种属内
SMARCA5 O60264 BAZ1B Homo sapiens Q9UIG0
Anti Bait CoIP
11980720
种属内
SMARCA5 O60264 BAZ1B Homo sapiens Q9UIG0
Anti Bait CoIP
16514417
种属内
SMARCA5 O60264 BAZ1B Homo sapiens Q9UIG0
Anti Tag CoIP
35271311
种属内
SMARCA5 O60264 BAZ1A Homo sapiens Q9NRL2
Anti Tag CoIP
35271311
种属内
SMARCA5 O60264 BAZ1A Homo sapiens Q9NRL2
Anti Bait CoIP
10655480
种属内
SMARCA5 O60264 BAZ1A Homo sapiens Q9NRL2
Affinity Chrom
10655480
种属内
SMARCA5 O60264 BAZ1A Homo sapiens Q9NRL2
Anti Bait CoIP
11980720
种属间: 跨种属相互作用 种属内: 同种属相互作用

SMARCA5 抗体

目录号 产品名 应用 反应物种
HY-P82268 SMARCA5 Antibody (YA2013) WB, ICC/IF Human, Mouse, Rat

关联疾病

疾病名称 别名
Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Ovarian Melanoma
Bone Epithelioid Hemangioma

Bone Hemangioma

Hemangioma Of Bone

Osseous Epithelioid Hemangioma

Osseous Hemangioma

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome

Atr, Nondeletion Type

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Atrx Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type

Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked

X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome

Xlmr Hypotonic Face Syndrome

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

Alpha Thalassemia X-Linked Mental Retardation Syndrome

Alpha Thalassemia/Mental Retardation, X-Linked

Alpha-Thalassemia X-Linked Mental Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type

X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

Xlmr-Hypotonic Face Syndrome

Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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
Macaca mulatta SMARCA5 VGNC VGNC:77649
Rattus norvegicus SMARCA5 RGD RGD:1308832
Bos taurus SMARCA5 VGNC VGNC:34988
Mus musculus SMARCA5 MGD MGI:1935129
Canis familiaris SMARCA5 VGNC VGNC:46531
Felis catus SMARCA5 VGNC VGNC:65465