1. Gene
  2. CHD6 - chromodomain helicase DNA binding protein 6 Gene

CHD6 - chromodomain helicase DNA binding protein 6 Gene

中文名称:染色质域解旋酶 DNA 结合蛋白 6

种属: Homo sapiens

同用名: CHD5; RIGB; CHD-6

基因 ID: 84181 | 基因类型: protein coding

关于 CHD6

Cytogenetic location: 20q12 Genomic coordinates (GRCh38): 20:41,402,083-41,618,377 (from NCBI)

This gene has 8 transcripts (splice variants), 194 orthologues and 30 paralogues. Ubiquitous expression in ovary (RPKM 7.0), thyroid (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码 SNF2/RAD54 解旋酶蛋白家族的成员。编码的蛋白质包含两个染色质结构域、一个解旋酶结构域和一个 ATPase 结构域。几种多亚基蛋白复合物重塑染色质以允许细胞类型特异性基因表达模式,并且编码的蛋白质被认为是这些染色质重塑复合物中的一个或多个的核心成员。所编码的蛋白质可作为转录抑制因子发挥作用,并参与流感病毒复制的细胞抑制。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of Influenza Virus replication. [provided by RefSeq, Jul 2013]

CHD6 基因产物(1)

mRNA Protein Name
NM_032221.5 NP_115597.3 chromodomain-helicase-DNA-binding protein 6
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-dependent activity, acting on DNA IDA
IDA: 通过直接分析推断
17027977 GOA
enables transcription coregulator binding IPI
IPI: 通过物理相互作用推断
16314513 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell redox homeostasis IMP
IMP: 通过突变表型推断
16314513 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
16314513 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleoplasm IDA
IDA: 通过直接分析推断
17027977 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

CHD6 蛋白结构

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (293 - 353)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (376 - 428)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (464 - 751)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (818 - 897)

BRK

BRK: BRK domain (2400 - 2438)

  • 0
  • 500
  • 1000
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  • 2000
  • 2500
  • 2715 a.a.
蛋白主名 其他名称

chromodomain-helicase-DNA-binding protein 6

ATP-dependent helicase CHD6

关联疾病

疾病名称 别名
Influenza

Flu

Influenza With Non-Respiratory Manifestation

Influenza With Other Manifestations

Influenza, Human

Influenza, Susceptibility To

Seasonal Influenza, Virus Identified

Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction

Schizophrenia 8

SCZD8

Schizophrenia Susceptibility Locus, Chromosome 18-Related

Schizophrenia 8 With Or Without An Affective Disorder

Hallermann-Streiff Syndrome

Francois Dyscephalic Syndrome

HSS

Hallermann'S Syndrome

Oculomandibulofacial Syndrome

Hallerman - Streiff Syndrome

François Dyscephalic Syndrome

Hallermann Streiff Francois Syndrome

Hallermann Streiff Syndrome

Adult Spinal Cord Ependymoma
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

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
Mus musculus CHD6 MGD MGI:1918639
Bos taurus CHD6 VGNC VGNC:27281
Canis familiaris CHD6 VGNC VGNC:39204
Felis catus CHD6 VGNC VGNC:60847
Macaca mulatta CHD6 VGNC VGNC:71022
Rattus norvegicus CHD6 RGD RGD:1310465