2. Gene
  3. CHD3 - chromodomain helicase DNA binding protein 3 Gene

CHD3 - chromodomain helicase DNA binding protein 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：染色体解旋酶 DNA 结合蛋白 3

种属: Homo sapiens

同用名: ZFH; Mi-2a; SNIBCPS; Mi2-ALPHA

基因 ID: 1107 | 基因类型: protein coding

关于 CHD3

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,884,796-7,912,755 (from NCBI)

This gene has 23 transcripts (splice variants), 201 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 26.5), brain (RPKM 24.4) and 24 other tissues.

功能概要

该基因编码 CHD 蛋白质家族的成员，其特征在于存在染色质 (染色质组织修饰剂) 结构域和 SNF2 相关解旋酶/ATP 酶结构域。这种蛋白质是称为 Mi-2/NuRD 复合物的组蛋白去乙酰化酶复合物的组分之一，它通过使组蛋白去乙酰化参与染色质的重塑。染色质重塑对于包括转录在内的许多过程都是必不可少的。在一部分皮肌炎患者中发现了针对这种蛋白质的自身抗体。已经描述了编码不同亚型的三种可变剪接转录本。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CHD3 基因产物(3)

mRNA Protein Name
NM_001005271.3 NP_001005271.2 chromodomain-helicase-DNA-binding protein 3 isoform 3
NM_001005273.3 NP_001005273.1 chromodomain-helicase-DNA-binding protein 3 isoform 1
NM_005852.4 NP_005843.2 chromodomain-helicase-DNA-binding protein 3 isoform 2

CHD3 蛋白结构

CHDNT

CHDNT: CHDNT (NUC034) domain (147 - 201)

PHD

PHD: PHD-finger (381 - 425)

PHD

PHD: PHD-finger (458 - 502)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (547 - 570)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (632 - 681)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (739 - 1035)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1095 - 1174)

DUF1087

DUF1087: Domain of Unknown Function (DUF1087) (1295 - 1357)

DUF1086

DUF1086: Domain of Unknown Function (DUF1086) (1378 - 1517)

CHDCT2

CHDCT2: CHDCT2 (NUC038) domain (1735 - 1907)

  • 0
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  • 1600
  • 2000 a.a.
蛋白主名 其他名称

chromodomain-helicase-DNA-binding protein 3

ATP-dependent helicase CHD3

关联疾病

疾病名称 别名
Snijders Blok-Campeau Syndrome

SNIBCPS

Intellectual Developmental Disorder With Macrocephaly, Speech Delay, And Dysmorphic Facies

Iddmsf

Chd3-Related Developmental Delay-Speech Delay-Intellectual Disability-Abnormalities Of Vision-Facial Dysmorphism Syndrome
Dermatomyositis

Amyopathic Dermatomyositis

Dermatopolymyositis

Adult Dermatomyositis

Polymyositis With Skin Involvement

Adult Type Dermatomyositis

Petges-Clejat Syndrome
Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1
Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome
Apraxia

Apraxias

Dyspraxia
Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

CMS1A

Cms Iia

Congenital Myasthenic Syndrome Type Iia

Cms2a

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Cms2a, Formerly

Cms Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Sccms

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02608 CHD3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CHD3 VGNC VGNC:39201
Mus musculus CHD3 MGD MGI:1344395
Rattus norvegicus CHD3 RGD RGD:1311923
Felis catus CHD3 VGNC VGNC:60845
Bos taurus CHD3 VGNC VGNC:27279
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