1. Gene
  2. POLN - DNA polymerase nu Gene

POLN - DNA polymerase nu Gene

中文名称:DNA 聚合酶核

种属: Homo sapiens

同用名: POL4P

基因 ID: 353497 | 基因类型: protein coding

关于 POLN

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:2,071,918-2,242,121 (from NCBI)

This gene has 13 transcripts (splice variants) and 160 orthologues. Broad expression in testis (RPKM 2.1), fat (RPKM 1.9) and 24 other tissues.

功能概要

该基因编码 DNA 聚合酶 A 型家族成员。编码的蛋白质在 DNA 修复和同源重组中发挥作用。该基因与来自重叠 GeneID 的一些转录物共享其 5' 外显子:79441,它编码一个增强素样蛋白质复合物亚基。[RefSeq 提供,2014 年 12 月]

This gene encodes a DNA Polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]

POLN 基因产物(1)

mRNA Protein Name
NM_181808.4 NP_861524.2 DNA polymerase nu
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-directed DNA polymerase activity IDA
IDA: 通过直接分析推断
12794064 GOA
enables cyclin binding IPI
IPI: 通过物理相互作用推断
19995904 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19995904 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
19995904 GOA
involved in interstrand cross-link repair IMP
IMP: 通过突变表型推断
19908865 GOA
involved in translesion synthesis IDA
IDA: 通过直接分析推断
20102227 GOA
involved in translesion synthesis IMP
IMP: 通过突变表型推断
19908865 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT located in nucleolus IDA
IDA: 通过直接分析推断
12794064 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12794064 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

POLN 蛋白结构

DNA_pol_A

DNA_pol_A: DNA polymerase family A (446 - 853)

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

DNA polymerase nu

DNA polymerase N

关联疾病

疾病名称 别名
Poland Syndrome

Poland Anomaly

Poland Sequence

Poland Syndactyly

Poland'S Syndrome

Poland'S Anomaly

Poland'S Syndactyly

Acro-Pectoro-Renal Field Defect

Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys

Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand

Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand

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

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

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
Canis familiaris POLN VGNC VGNC:44787
Macaca mulatta POLN VGNC VGNC:76068
Mus musculus POLN MGD MGI:2675617
Bos taurus POLN VGNC VGNC:33129
Rattus norvegicus POLN RGD RGD:7675413