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  3. POLH - DNA polymerase eta Gene

POLH - DNA polymerase eta Gene

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

中文名称：DNA 聚合酶 eta

种属: Homo sapiens

同用名: XPV; XP-V; RAD30; RAD30A

基因 ID: 5429 | 基因类型: protein coding

关于 POLH

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,576,185-43,620,523 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 4.3), testis (RPKM 3.5) and 25 other tissues.

功能概要

该基因编码专门 DNA 聚合酶 Y 家族的成员。它以低于其他 DNA 导向聚合酶的保真度复制未损坏的 DNA。但是，它可以准确地复制受紫外线损伤的 DNA；当存在胸腺嘧啶二聚体时，这种聚合酶会在新合成的 DNA 中插入互补核苷酸，从而绕过损伤并抑制紫外线诱导的 DNA 损伤的诱变效应。这种聚合酶被认为参与了免疫球蛋白类别转换重组过程中的超突变。该基因的突变导致 XPV，一种色素性干皮病的变体。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2014 年 5 月]

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

POLH 基因产物(3)

mRNA Protein Name
NM_001291969.2 NP_001278898.1 DNA polymerase eta isoform 2
NM_001291970.2 NP_001278899.1 DNA polymerase eta isoform 3
NM_006502.3 NP_006493.1 DNA polymerase eta isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
16763556 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA synthesis involved in DNA repair IDA
IDA: 通过直接分析推断
17563354 GOA
involved in response to UV-C IDA
IDA: 通过直接分析推断
17563354 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

POLH 蛋白结构

IMS

IMS: impB/mucB/samB family (12 - 227)

IMS_C

IMS_C: impB/mucB/samB family C-terminal domain (308 - 389)

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

DNA polymerase eta

DNA polymerase eta transcript

POLH 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
Intra POLH Q9Y253 PALB2 Homo sapiens Q86YC2
IF
24485656
Intra POLH Q9Y253 PALB2 Homo sapiens Q86YC2
Anti Bait CoIP
24485656
Intra POLH Q9Y253 UBC Homo sapiens P0CG48
NMR
17304240
Intra POLH Q9Y253 UBC Homo sapiens P0CG48
Y2H
16763556
Intra POLH Q9Y253 BRCA2 Homo sapiens P51587
Anti Bait CoIP
24485656
Intra POLH Q9Y253 PCNA Homo sapiens Q6FI35
Pull Down
16763556
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
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
De Sanctis-Cacchione Syndrome

Xerodermic Idiocy

Xeroderma Pigmentosum With Neurologic Manifestation

DSC

Xerodermic Idiocy Of De Sanctis And Cacchione
Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin
Diamond-Blackfan Anemia 9

DBA9

Rps10-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 9
Ruijs-Aalfs Syndrome

Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome

RJALS
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
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10831 POLH Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus POLH VGNC VGNC:68942
Macaca mulatta POLH VGNC VGNC:76207
Mus musculus POLH MGD MGI:1891457
Canis familiaris POLH VGNC VGNC:44783
Bos taurus POLH VGNC VGNC:33124
Rattus norvegicus POLH RGD RGD:1309893
Others POLH NCBI
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