POLRMT RNA polymerase mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLRMTprovided by HGNC
Official Full Name: RNA polymerase mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:9200
See related: Ensembl:ENSG00000099821 MIM:601778; AllianceGenome:HGNC:9200
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: APOLMT; MTRNAP; MTRPOL; COXPD55; h-mtRPOL
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]
Expression: Broad expression in testis (RPKM 15.0), kidney (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (617221..633537, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (571527..587843, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (617221..633537, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The requirement of mitochondrial RNA polymerase for non-small cell lung cancer cell growth.
Title: The requirement of mitochondrial RNA polymerase for non-small cell lung cancer cell growth.
TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
Title: TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Title: POLRMT mutations impair mitochondrial transcription causing neurological disease.
the frequency of variation in sequence identity and length at conserved sequence block 2 amongst human mitochondrial genomes and used in vitro transcription to assess the effects of this length heterogeneity on the activity of the mitochondrial RNA polymerase, POLRMT, was examined.
Title: Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.
Suggest targeting POLRMT as strategy for treating acute myeloid leukemia.
Title: Targeting mitochondrial RNA polymerase in acute myeloid leukemia.
knock-down of MRPL12 by RNA interference results in instability of POLRMT.
Title: Mitochondrial Ribosomal Protein L12 Is Required for POLRMT Stability and Exists as Two Forms Generated by Alternative Proteolysis during Import.
Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes.
Title: Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.
The results reveal the organization of TFAM, POLRMT and TFB2M around the light-strand promoter and represent the first structural characterization of the entire mitochondrial transcriptional initiation complex.
Title: Organization of the human mitochondrial transcription initiation complex.
The results demonstrate that human TFAM binds to the N-terminal domain of mtRNAP, which results in bending of the promoter DNA around mtRNAP.
Title: A novel intermediate in transcription initiation by human mitochondrial RNA polymerase.
Newly synthesized RNA exits toward the pentatricopeptide repeat (PPR) domain, a unique feature of mtRNAP with conserved RNA-recognition motifs.
Title: Structure of human mitochondrial RNA polymerase elongation complex.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 55 MedGen: C5676915 OMIM: 619743 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5'-RNA exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA primase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-directed 5'-3' RNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-directed 5'-3' RNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-directed 5'-3' RNA polymerase activity	TAS Traceable Author Statement more info	PubMed
enables RNA binding	HDA more info	PubMed
enables mitochondrial promoter sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA replication, synthesis of primer	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial transcription	TAS Traceable Author Statement more info	PubMed
involved_in transcription initiation at mitochondrial promoter	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of mitochondrial DNA-directed RNA polymerase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA-directed RNA polymerase, mitochondrial

Names: polymerase (RNA) mitochondrial (DNA directed)

NP_001394734.1

EC 2.7.7.6

NP_001394735.1

EC 2.7.7.6

NP_001394736.1

EC 2.7.7.6

NP_001394737.1

EC 2.7.7.6

NP_001394738.1

EC 2.7.7.6

NP_001394739.1

EC 2.7.7.6

NP_001394740.1

EC 2.7.7.6

NP_001394741.1

EC 2.7.7.6

NP_001394742.1

EC 2.7.7.6

NP_001394743.1

EC 2.7.7.6

NP_001394744.1

EC 2.7.7.6

NP_001394745.1

EC 2.7.7.6

NP_001394758.1

EC 2.7.7.6

NP_001394759.1

EC 2.7.7.6

NP_001394760.1

EC 2.7.7.6

NP_001394761.1

EC 2.7.7.6

NP_001394762.1

EC 2.7.7.6

NP_001394763.1

EC 2.7.7.6

NP_001394764.1

EC 2.7.7.6

NP_001394765.1

EC 2.7.7.6

NP_005026.3

EC 2.7.7.6

XP_047294907.1

EC 2.7.7.6

XP_054177217.1

EC 2.7.7.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023049.1 RefSeqGene

Range

5032..21348

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001407805.1 → NP_001394734.1 DNA-directed RNA polymerase, mitochondrial isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407806.1 → NP_001394735.1 DNA-directed RNA polymerase, mitochondrial isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407807.1 → NP_001394736.1 DNA-directed RNA polymerase, mitochondrial isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407808.1 → NP_001394737.1 DNA-directed RNA polymerase, mitochondrial isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407809.1 → NP_001394738.1 DNA-directed RNA polymerase, mitochondrial isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407810.1 → NP_001394739.1 DNA-directed RNA polymerase, mitochondrial isoform 7 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407811.1 → NP_001394740.1 DNA-directed RNA polymerase, mitochondrial isoform 8 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407812.1 → NP_001394741.1 DNA-directed RNA polymerase, mitochondrial isoform 9 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407813.1 → NP_001394742.1 DNA-directed RNA polymerase, mitochondrial isoform 10 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407814.1 → NP_001394743.1 DNA-directed RNA polymerase, mitochondrial isoform 11 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407815.1 → NP_001394744.1 DNA-directed RNA polymerase, mitochondrial isoform 12 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407816.1 → NP_001394745.1 DNA-directed RNA polymerase, mitochondrial isoform 13 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407829.1 → NP_001394758.1 DNA-directed RNA polymerase, mitochondrial isoform 14 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407830.1 → NP_001394759.1 DNA-directed RNA polymerase, mitochondrial isoform 15 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407831.1 → NP_001394760.1 DNA-directed RNA polymerase, mitochondrial isoform 16

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407832.1 → NP_001394761.1 DNA-directed RNA polymerase, mitochondrial isoform 17 precursor

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407833.1 → NP_001394762.1 DNA-directed RNA polymerase, mitochondrial isoform 18

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407834.1 → NP_001394763.1 DNA-directed RNA polymerase, mitochondrial isoform 19

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407835.1 → NP_001394764.1 DNA-directed RNA polymerase, mitochondrial isoform 20

Status: REVIEWED

Source sequence(s)

AC004449
NM_001407836.1 → NP_001394765.1 DNA-directed RNA polymerase, mitochondrial isoform 21

Status: REVIEWED

Source sequence(s)

AC004449
NM_005035.4 → NP_005026.3 DNA-directed RNA polymerase, mitochondrial isoform 5 precursor

See identical proteins and their annotated locations for NP_005026.3

Status: REVIEWED

Source sequence(s)

AC004449, BC030829, BC070057, BC098387

Consensus CDS

CCDS12036.1

UniProtKB/Swiss-Prot

O00411, O60370

UniProtKB/TrEMBL

Q4G0F4

Related

ENSP00000465759.2, ENST00000588649.7

Conserved Domains (3) summary

sd00004
Location:261 → 290

PPR; PPR repeat [structural motif]

pfam00940
Location:831 → 1229

RNA_pol; DNA-dependent RNA polymerase

pfam14700
Location:432 → 703

RPOL_N; DNA-directed RNA polymerase N-terminal