POLRMT - RNA polymerase mitochondrial Gene

Also Known as APOLMT; MTRNAP; MTRPOL; COXPD55; h-mtRPOL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5442

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-5'-RNA exonuclease activity	IDA IDA: Inferred from direct assay	35449456	GOA
enables DNA primase activity	IDA IDA: Inferred from direct assay	18685103	GOA
enables DNA-directed 5'-3' RNA polymerase activity	IDA IDA: Inferred from direct assay	21278163	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17337445	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	29445193	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial transcription	IDA IDA: Inferred from direct assay	21278163	GOA
involved in transcription initiation at mitochondrial promoter	IDA IDA: Inferred from direct assay	29149603	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	29445193	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	17337445	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23283301	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLRMT Protein Structure

RPOL_N

RNA_pol

0
200
400
600
800
1000
1230 a.a.

Protein Preferred Names	Protein Names
DNA-directed RNA polymerase, mitochondrial	polymerase (RNA) mitochondrial (DNA directed)

POLRMT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POLRMT	O00411	MRPL12	Homo sapiens	P52815	Anti Tag CoIP	22003127
Intra	POLRMT	O00411	TEFM	Homo sapiens	Q96QE5	Pull Down	21278163

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134539	IMT1	Inhibitor	99.86%	Unkown
HY-137067	IMT1B	Inhibitor	99.45%	Unkown
HY-RS10863	POLRMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-163892	POLRMT-IN-1	Inhibitor	/	Unkown
HY-174827	POLRMT-IN-2		/	Unkown
HY-175454	YH-0623	Inhibitor	/	Unkown
HY-181071	POLRMT-IN-3		/	Unkown
HY-181072	POLRMT-IN-4	Inhibitor	/	Unkown
HY-RS18202	Polrmt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24678	Polrmt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	POLRMT	NCBI