1. Gene
  2. POLM - DNA polymerase mu Gene

POLM - DNA polymerase mu Gene

中文名称:DNA 聚合酶μ

种属: Homo sapiens

同用名: Tdt-N; Pol Mu

基因 ID: 27434 | 基因类型: protein coding

关于 POLM

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,072,062-44,082,530 (from NCBI)

This gene has 18 transcripts (splice variants), 185 orthologues and 3 paralogues. Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues.

功能概要

预测可实现 DNA 指导的 DNA 聚合酶活性。预计通过非同源末端连接参与双链断裂修复。预计在免疫球蛋白基因的 B 细胞分化和体细胞超突变的上游或内部起作用。预测位于核质中。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-directed DNA Polymerase activity. Predicted to be involved in double-strand break repair via nonhomologous end joining. Predicted to act upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

POLM 基因产物(4)

mRNA Protein Name
NM_001284330.2 NP_001271259.1 DNA-directed DNA/RNA polymerase mu isoform 2
NM_001284331.2 NP_001271260.1 DNA-directed DNA/RNA polymerase mu isoform 3
NM_001362683.2 NP_001349612.1 DNA-directed DNA/RNA polymerase mu isoform 4
NM_013284.4 NP_037416.1 DNA-directed DNA/RNA polymerase mu isoform 1
基因本体论
  • 分子功能
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
22458338 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

POLM 蛋白结构

HHH_8

HHH_8: Helix-hairpin-helix domain (156 - 218)

DNA_pol_lambd_f

DNA_pol_lambd_f: Fingers domain of DNA polymerase lambda (237 - 287)

DNA_pol_B_palm

DNA_pol_B_palm: DNA polymerase beta palm (292 - 361)

DNA_pol_B_thumb

DNA_pol_B_thumb: DNA polymerase beta thumb (430 - 493)

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  • 494 a.a.
蛋白主名 其他名称

DNA-directed DNA/RNA polymerase mu

Pol iota

POLM 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
种属间
POLM Q9NP87 tax Human T-cell leukemia virus 1 P14079 22458338
种属间
POLM Q9NP87 tax Human T-cell leukemia virus 1 P14079 22458338
种属间: 跨种属相互作用 种属内: 同种属相互作用

POLM 抗体

目录号 产品名 应用 反应物种
HY-P86846 DNA polymerase mu Antibody (YA6539) WB Human

关联疾病

疾病名称 别名
Nemaline Myopathy 3

Nemaline Myopathy 3, Autosomal Dominant Or Recessive

Congenital Myopathy With Excess Of Thin Filaments

NEM3

Myopathy, Actin, Congenital, With Cores

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Actin-Accumulation Myopathy

Actin Myopathy

Actin Accumulation Myopathy

Actin Filament Aggregate Myopathy

Nemaline Myopathy, Type 3

MPCETM

Acta1-Related Nemaline Myopathy

Actin Myopathy Congenital With Cores

Nemaline Myopathy 3 With Intranuclear Rods

Myopathy, Nemaline, Type 3

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

Lig4 Syndrome

Dna Ligase Iv Deficiency

Ligase 4 Syndrome

LIG4S

Lung Adenoma

Adenoma Of Lung

Pulmonary Adenoma

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
Bos taurus POLM VGNC VGNC:33128
Mus musculus POLM MGD MGI:1860191
Rattus norvegicus POLM RGD RGD:1308247
Macaca mulatta POLM VGNC VGNC:81742
Felis catus POLM VGNC VGNC:68945
Canis familiaris POLM VGNC VGNC:103698