1. Gene
  2. CHD5 - chromodomain helicase DNA binding protein 5 Gene

CHD5 - chromodomain helicase DNA binding protein 5 Gene

中文名称:染色质域解旋酶 DNA 结合蛋白 5

种属: Homo sapiens

同用名: CHD-5; PMNDS

基因 ID: 26038 | 基因类型: protein coding

关于 CHD5

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:6,101,787-6,180,321 (from NCBI)

This gene has 6 transcripts (splice variants), 171 orthologues, 30 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 14.5), testis (RPKM 9.9) and 1 other tissue.

功能概要

该基因编码染色域解旋酶 DNA 结合蛋白家族的成员。该家族成员的特征在于染色域、解旋酶 ATP 结合域和附加功能域。该基因编码一种神经元特异性蛋白质,可能在染色质重塑和基因转录中发挥作用。该基因是一种潜在的抑癌基因,可能在神经母细胞瘤的发展中发挥作用。[RefSeq 提供,2012 年 2 月]

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

CHD5 基因产物(1)

mRNA Protein Name
NM_015557.3 NP_056372.1 chromodomain-helicase-DNA-binding protein 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 H3K27me3 modified histone binding IDA
IDA: 通过直接分析推断
23948251 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromatin remodeling IMP
IMP: 通过突变表型推断
23948251 GOA
involved in regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
23948251 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
21931736 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

CHD5 蛋白结构

CHDNT

CHDNT: CHDNT (NUC034) domain (146 - 200)

PHD

PHD: PHD-finger (345 - 389)

PHD

PHD: PHD-finger (418 - 462)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (508 - 531)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (594 - 628)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (703 - 999)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1059 - 1138)

DUF1087

DUF1087: Domain of Unknown Function (DUF1087) (1297 - 1359)

DUF1086

DUF1086: Domain of Unknown Function (DUF1086) (1389 - 1529)

CHDCT2

CHDCT2: CHDCT2 (NUC038) domain (1731 - 1903)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1954 a.a.
蛋白主名 其他名称

chromodomain-helicase-DNA-binding protein 5

ATP-dependent helicase CHD5

关联疾病

疾病名称 别名
Parenti-Mignot Neurodevelopmental Syndrome

PMNDS

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

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
Bos taurus CHD5 VGNC VGNC:59327
Macaca mulatta CHD5 VGNC VGNC:70959
Rattus norvegicus CHD5 RGD RGD:1582725
Mus musculus CHD5 MGD MGI:3036258
Felis catus CHD5 VGNC VGNC:60846
Canis familiaris CHD5 VGNC VGNC:39203