1. Gene
  2. POLRMT - RNA polymerase mitochondrial Gene

POLRMT - RNA polymerase mitochondrial Gene

中文名称:RNA 聚合酶线粒体

种属: Homo sapiens

同用名: APOLMT; MTRNAP; MTRPOL; COXPD55; h-mtRPOL

基因 ID: 5442 | 基因类型: protein coding

关于 POLRMT

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:617,221-633,537 (from NCBI)

This gene has 8 transcripts (splice variants), 198 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 15.0), kidney (RPKM 8.1) and 25 other tissues.

功能概要

该基因编码线粒体 DNA 指导的 RNA 聚合酶。该基因产物负责线粒体基因表达以及提供 RNA 引物以启动线粒体基因组的复制。虽然这种多肽与三种核 DNA 指导的 RNA 聚合酶具有相同的功能,但它与噬菌体的 RNA 聚合酶和低等真核生物的线粒体聚合酶的关系更为密切。[RefSeq 提供,2008 年 7 月]

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]

POLRMT 基因产物(21)

mRNA Protein Name
NM_001407805.1 NP_001394734.1 DNA-directed RNA polymerase, mitochondrial isoform 1 precursor
NM_001407806.1 NP_001394735.1 DNA-directed RNA polymerase, mitochondrial isoform 2 precursor
NM_001407807.1 NP_001394736.1 DNA-directed RNA polymerase, mitochondrial isoform 3 precursor
NM_001407808.1 NP_001394737.1 DNA-directed RNA polymerase, mitochondrial isoform 4 precursor
NM_001407809.1 NP_001394738.1 DNA-directed RNA polymerase, mitochondrial isoform 6 precursor
NM_001407810.1 NP_001394739.1 DNA-directed RNA polymerase, mitochondrial isoform 7 precursor
NM_001407811.1 NP_001394740.1 DNA-directed RNA polymerase, mitochondrial isoform 8 precursor
NM_001407812.1 NP_001394741.1 DNA-directed RNA polymerase, mitochondrial isoform 9 precursor
NM_001407813.1 NP_001394742.1 DNA-directed RNA polymerase, mitochondrial isoform 10 precursor
NM_001407814.1 NP_001394743.1 DNA-directed RNA polymerase, mitochondrial isoform 11 precursor
NM_001407815.1 NP_001394744.1 DNA-directed RNA polymerase, mitochondrial isoform 12 precursor
NM_001407816.1 NP_001394745.1 DNA-directed RNA polymerase, mitochondrial isoform 13 precursor
NM_001407829.1 NP_001394758.1 DNA-directed RNA polymerase, mitochondrial isoform 14 precursor
NM_001407830.1 NP_001394759.1 DNA-directed RNA polymerase, mitochondrial isoform 15 precursor
NM_001407831.1 NP_001394760.1 DNA-directed RNA polymerase, mitochondrial isoform 16
NM_001407832.1 NP_001394761.1 DNA-directed RNA polymerase, mitochondrial isoform 17 precursor
NM_001407833.1 NP_001394762.1 DNA-directed RNA polymerase, mitochondrial isoform 18
NM_001407834.1 NP_001394763.1 DNA-directed RNA polymerase, mitochondrial isoform 19
NM_001407835.1 NP_001394764.1 DNA-directed RNA polymerase, mitochondrial isoform 20
NM_001407836.1 NP_001394765.1 DNA-directed RNA polymerase, mitochondrial isoform 21
NM_005035.4 NP_005026.3 DNA-directed RNA polymerase, mitochondrial isoform 5 precursor
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 3'-5'-RNA exonuclease activity IDA
IDA: 通过直接分析推断
35449456 GOA
enables DNA primase activity IDA
IDA: 通过直接分析推断
18685103 GOA
enables DNA-directed 5'-3' RNA polymerase activity IDA
IDA: 通过直接分析推断
21278163 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17337445 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
29445193 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial transcription IDA
IDA: 通过直接分析推断
21278163 GOA
involved in transcription initiation at mitochondrial promoter IDA
IDA: 通过直接分析推断
29149603 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
29445193 GOA
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
18063578 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
17337445 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23283301 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

POLRMT 蛋白结构

RPOL_N

RPOL_N: DNA-directed RNA polymerase N-terminal (431 - 704)

RNA_pol

RNA_pol: DNA-dependent RNA polymerase (831 - 1230)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1230 a.a.
蛋白主名 其他名称

DNA-directed RNA polymerase, mitochondrial

polymerase (RNA) mitochondrial (DNA directed)

POLRMT 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
POLRMT O00411 MRPL12 Homo sapiens P52815 22003127
种属内
POLRMT O00411 TEFM Homo sapiens Q96QE5 21278163
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
Combined Oxidative Phosphorylation Deficiency 55

COXPD55

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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 POLRMT VGNC VGNC:108252
Rattus norvegicus POLRMT RGD RGD:1304599
Mus musculus POLRMT MGD MGI:1915843
Felis catus POLRMT VGNC VGNC:68956
Bos taurus POLRMT VGNC VGNC:33154