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  2. HELB - DNA helicase B Gene

HELB - DNA helicase B Gene

中文名称:DNA 解旋酶 B

种属: Homo sapiens

同用名: DHB; hDHB

基因 ID: 92797 | 基因类型: protein coding

关于 HELB

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:66,302,493-66,343,643 (from NCBI)

This gene has 6 transcripts (splice variants), 156 orthologues and 18 paralogues. Broad expression in bone marrow (RPKM 1.7), appendix (RPKM 1.4) and 24 other tissues.

功能概要

该基因编码一种 DNA 依赖性 ATP 酶,它催化 DNA 复制、修复、重组和转录所必需的 DNA 解旋。该基因被认为在细胞周期的 S 期进入期间特别起作用。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 2 月]

This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

HELB 基因产物(2)

mRNA Protein Name
NM_001370285.1 NP_001357214.1 DNA helicase B
NM_033647.5 NP_387467.2 DNA helicase B
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 5'-3' DNA helicase activity IDA
IDA: 通过直接分析推断
12181327 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
12181327 GOA
enables single-stranded DNA helicase activity IDA
IDA: 通过直接分析推断
12181327 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
26774285 GOA
involved in DNA replication IMP
IMP: 通过突变表型推断
12181327 GOA
involved in DNA replication, synthesis of primer IDA
IDA: 通过直接分析推断
12181327 GOA
involved in negative regulation of double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
26774285 GOA
involved in regulation of DNA double-strand break processing IMP
IMP: 通过突变表型推断
26774285 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA replication factor A complex IDA
IDA: 通过直接分析推断
26774285 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15146062 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15146062 GOA
located in site of double-strand break IMP
IMP: 通过突变表型推断
26774285 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

HELB 蛋白结构

AAA_30

AAA_30: AAA domain (454 - 674)

UvrD_C_2

UvrD_C_2: UvrD-like helicase C-terminal domain (831 - 926)

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  • 1087 a.a.
蛋白主名 其他名称

DNA helicase B

helicase (DNA) B

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 74

DFNB74

Autosomal Recessive Nonsyndromic Deafness 74

Autosomal Recessive Deafness 74

Deafness, Autosomal Recessive, 74

Deafness, Autosomal Recessive, Type 74

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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 HELB VGNC VGNC:73185
Bos taurus HELB VGNC VGNC:29804
Felis catus HELB VGNC VGNC:62789
Canis familiaris HELB VGNC VGNC:41648
Rattus norvegicus HELB RGD RGD:1560103
Mus musculus HELB MGD MGI:2152895