1. Gene
  2. HELQ - helicase, POLQ like Gene

HELQ - helicase, POLQ like Gene

中文名称:解旋酶,POLQ 样

种属: Homo sapiens

同用名: HEL308

基因 ID: 113510 | 基因类型: protein coding

关于 HELQ

Cytogenetic location: 4q21.23 Genomic coordinates (GRCh38): 4:83,407,346-83,455,883 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues and 8 paralogues. Ubiquitous expression in adrenal (RPKM 4.5), ovary (RPKM 4.1) and 25 other tissues.

功能概要

HEL308 是一种单链 DNA 依赖性 ATP 酶和 DNA 解旋酶 (Marini 和 Wood,2002 [PubMed 11751861]) 。[OMIM 提供,2008 年 3 月]

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

HELQ 基因产物(6)

mRNA Protein Name
NM_001297755.2 NP_001284684.2 helicase POLQ-like isoform 2
NM_001297756.2 NP_001284685.1 helicase POLQ-like isoform 3
NM_001297757.2 NP_001284686.1 helicase POLQ-like isoform 4
NM_001297758.2 NP_001284687.2 helicase POLQ-like isoform 5
NM_001297759.2 NP_001284688.2 helicase POLQ-like isoform 6
NM_133636.5 NP_598375.3 helicase POLQ-like isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
24005329 GOA
enables single-stranded 3'-5' DNA helicase activity IDA
IDA: 通过直接分析推断
11751861 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in nucleus IDA
IDA: 通过直接分析推断
34937945 GOA
is active in site of DNA damage IDA
IDA: 通过直接分析推断
34937945 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

HELQ 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (347 - 505)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (638 - 712)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1101 a.a.
蛋白主名 其他名称

helicase POLQ-like

DNA helicase HEL308

HELQ 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HELQ Q8TDG4 RAD51C Homo sapiens O43502 24005329
种属内
HELQ Q8TDG4 RAD51C Homo sapiens O43502 24005329
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome

XPDS

X-Linked Parkinsonism With Spasticity

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

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
Felis catus HELQ VGNC VGNC:62790
Bos taurus HELQ VGNC VGNC:107247
Macaca mulatta HELQ VGNC VGNC:73192
Canis familiaris HELQ VGNC VGNC:41650
Mus musculus HELQ MGD MGI:2176740
Rattus norvegicus HELQ RGD RGD:1560216