2. Gene
  3. GEN1 - GEN1 Holliday junction 5' flap endonuclease Gene

GEN1 - GEN1 Holliday junction 5' flap endonuclease Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GEN1 Holliday 连接 5' 瓣核酸内切酶

种属: Homo sapiens

同用名: Gen

基因 ID: 348654 | 基因类型: protein coding

关于 GEN1

Cytogenetic location: 2p24.2 Genomic coordinates (GRCh38): 2:17,753,278-17,788,946 (from NCBI)

This gene has 8 transcripts (splice variants), 202 orthologues and 2 paralogues. Broad expression in lymph node (RPKM 4.2), testis (RPKM 3.9) and 25 other tissues.

功能概要

该基因编码 Rad2/xeroderma pigmentosum G 组核酸酶家族的成员，其成员的特征在于 N 末端和内部 xeroderma pigmentosum G 组核酸酶结构域，然后是螺旋-发夹-螺旋结构域和无序的 C-末端结构域。该基因编码的蛋白质参与 Holliday 连接的分解，Holliday 连接是在同源重组和双链断裂修复过程中共价连接 DNA 的中间四向结构。该蛋白质通过在连接处创建双切口来解析 Holliday 连接，从而产生可以连接的带切口的双链产物。此外，已发现这种蛋白质定位于中心体，在那里它与中心体完整性的调节有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 7 月]

This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

GEN1 基因产物(2)

mRNA Protein Name
NM_001130009.3 NP_001123481.3 flap endonuclease GEN homolog 1
NM_182625.5 NP_872431.5 flap endonuclease GEN homolog 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 5'-flap endonuclease activity IDA
IDA: 通过直接分析推断
26578604 GOA
enables crossover junction DNA endonuclease activity IDA
IDA: 通过直接分析推断
26578604 GOA
enables crossover junction DNA endonuclease activity IMP
IMP: 通过突变表型推断
23108668 GOA
enables four-way junction DNA binding IDA
IDA: 通过直接分析推断
26578604 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
26682650 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
26578604 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
23166748 GOA
involved in positive regulation of mitotic cell cycle spindle assembly checkpoint IMP
IMP: 通过突变表型推断
23108668 GOA
involved in regulation of centrosome duplication IMP
IMP: 通过突变表型推断
23108668 GOA
involved in replication fork processing IDA
IDA: 通过直接分析推断
26578604 GOA
involved in resolution of DNA recombination intermediates IMP
IMP: 通过突变表型推断
24080495 GOA
involved in resolution of mitotic recombination intermediates IMP
IMP: 通过突变表型推断
23108668 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
23166748 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

GEN1 蛋白结构

XPG_N

XPG_N: XPG N-terminal domain (1 - 93)

XPG_I

XPG_I: XPG I-region (123 - 208)

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

flap endonuclease GEN homolog 1

Gen endonuclease homolog 1

GEN1 抗体

目录号 产品名 应用 反应物种
HY-P83163 GEN1 Antibody (YA2908) WB Human, Mouse, Rat
HY-P83163A GEN1 Antibody (YA2908)(PBS only) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome
Optic Atrophy 6

OPA6

Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-177512 MSC778 Inhibitor / 否
HY-RS05372 GEN1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GEN1 MGD MGI:2443149
Canis familiaris GEN1 VGNC VGNC:41179
Felis catus GEN1 VGNC VGNC:62518
Macaca mulatta GEN1 VGNC VGNC:72790
Bos taurus GEN1 VGNC VGNC:29322
Rattus norvegicus GEN1 RGD RGD:1559792
Others GEN1 NCBI
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