1. Gene
  2. ATAD5 - ATPase family AAA domain containing 5 Gene

ATAD5 - ATPase family AAA domain containing 5 Gene

中文名称:含 ATPase 家族 AAA 结构域 5

种属: Homo sapiens

同用名: ELG1; FRAG1; C17orf41

基因 ID: 79915 | 基因类型: protein coding

关于 ATAD5

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,831,966-30,895,869 (from NCBI)

This gene has 3 transcripts (splice variants), 240 orthologues and 1 paralogue. Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues.

功能概要

启用 DNA 钳卸载器活动。参与 DNA 钳位卸载; DNA 复制的正调控;细胞周期 G2/M 相变的正调控。 Elg1 RFC 类复合体的一部分。神经鞘瘤的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables DNA clamp unloader activity. Involved in DNA clamp unloading; positive regulation of DNA replication; and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Apr 2022]

ATAD5 基因产物(1)

mRNA Protein Name
NM_024857.5 NP_079133.3 ATPase family AAA domain-containing 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 DNA clamp unloader activity IMP
IMP: 通过突变表型推断
23277426 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21555454 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA replication IMP
IMP: 通过突变表型推断
23277426 GOA
involved in positive regulation of cell cycle G2/M phase transition IMP
IMP: 通过突变表型推断
23277426 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Elg1 RFC-like complex IDA
IDA: 通过直接分析推断
23277426 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

ATAD5 蛋白结构

AAA

AAA: ATPase family associated with various cellular activities (AAA) (1128 - 1205)

  • 0
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  • 1500
  • 1844 a.a.
蛋白主名 其他名称

ATPase family AAA domain-containing protein 5

chromosome fragility associated gene 1

关联疾病

疾病名称 别名
Chromosome 17q11.2 Deletion Syndrome

Nf1 Microdeletion Syndrome

17q11 Microdeletion Syndrome

Neurofibromatosis Type 1 Microdeletion Syndrome

Van Asperen Syndrome

Del(17)(Q11)

Monosomy 17q11

Chromosome 17q11.2 Deletion Syndrome, 1.4mb

Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

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
Mus musculus ATAD5 MGD MGI:2442925
Bos taurus ATAD5 VGNC VGNC:26235
Canis familiaris ATAD5 VGNC VGNC:38203
Macaca mulatta ATAD5 VGNC VGNC:99122
Felis catus ATAD5 VGNC VGNC:59991
Rattus norvegicus ATAD5 RGD RGD:1561464