Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5442
Gene name	RNA polymerase mitochondrial
Gene symbol	POLRMT
Synonyms (NCBI Gene)	APOLMTCOXPD55MTRNAPMTRPOLh-mtRPOL
Chromosome	19
Chromosome location	19p13.3
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

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024018	hsa-miR-1-3p	Proteomics	18668040
MIRT049050	hsa-miR-92a-3p	CLASH	23622248
MIRT046122	hsa-miR-30b-5p	CLASH	23622248
MIRT044146	hsa-miR-30e-5p	CLASH	23622248
MIRT1249445	hsa-miR-329	CLIP-seq
MIRT1249446	hsa-miR-362-3p	CLIP-seq
MIRT1249447	hsa-miR-3941	CLIP-seq
MIRT1249448	hsa-miR-4284	CLIP-seq
MIRT1249449	hsa-miR-466	CLIP-seq
MIRT1249450	hsa-miR-4672	CLIP-seq
MIRT1249451	hsa-miR-4699-3p	CLIP-seq
MIRT1249452	hsa-miR-603	CLIP-seq
MIRT1249445	hsa-miR-329	CLIP-seq
MIRT1249446	hsa-miR-362-3p	CLIP-seq
MIRT1249447	hsa-miR-3941	CLIP-seq
MIRT1249448	hsa-miR-4284	CLIP-seq
MIRT1249449	hsa-miR-466	CLIP-seq
MIRT1249450	hsa-miR-4672	CLIP-seq
MIRT1249452	hsa-miR-603	CLIP-seq
MIRT1249445	hsa-miR-329	CLIP-seq
MIRT1249446	hsa-miR-362-3p	CLIP-seq
MIRT1249447	hsa-miR-3941	CLIP-seq
MIRT1249448	hsa-miR-4284	CLIP-seq
MIRT1249449	hsa-miR-466	CLIP-seq
MIRT1249450	hsa-miR-4672	CLIP-seq
MIRT1249452	hsa-miR-603	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-RNA exonuclease activity	IDA	35449456
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0001018	Function	Mitochondrial promoter sequence-specific DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003899	Function	DNA-directed RNA polymerase activity	IBA
GO:0003899	Function	DNA-directed RNA polymerase activity	IDA	18685103, 21278163
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	TAS	17337445
GO:0005515	Function	Protein binding	IPI	17337445, 21278163, 22003127, 23283301, 28514442, 29445193, 31226201, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	17337445
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	23275553, 29445193
GO:0005759	Component	Mitochondrial matrix	NAS	29149603
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006264	Process	Mitochondrial DNA replication	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006390	Process	Mitochondrial transcription	IBA
GO:0006390	Process	Mitochondrial transcription	IDA	21278163
GO:0006390	Process	Mitochondrial transcription	TAS	17337445
GO:0006391	Process	Transcription initiation at mitochondrial promoter	IDA	29149603
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	23283301, 29445193
GO:0032991	Component	Protein-containing complex	IEA
GO:0034062	Function	5'-3' RNA polymerase activity	IEA
GO:0034245	Component	Mitochondrial DNA-directed RNA polymerase complex	IBA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0043565	Function	Sequence-specific DNA binding	IDA	29445193
GO:0043565	Function	Sequence-specific DNA binding	IEA

MIM	HGNC	e!Ensembl
601778	9200	ENSG00000099821

O00411

Protein name

DNA-directed RNA polymerase, mitochondrial (MtRPOL) (EC 2.7.7.6)

Protein function

DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:21278163, PubMed:33602924). Component of the mitochondrial transcription initiation complex,

PDB

3SPA , 4BOC , 5OLA , 6ERP , 6ERQ , 7A8P , 7PZP , 7PZR , 7ZC4 , 8U8U , 8U8V , 9BDC , 9BDD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14700	RPOL_N	411 → 704	DNA-directed RNA polymerase N-terminal	Domain
PF00940	RNA_pol	831 → 1230	DNA-dependent RNA polymerase	Family

Sequence

MSALCWGRGAAGLKRALRPCGRPGLPGKEGTAGGVCGPRRSSSASPQEQDQDRRKDWGHV
ELLEVLQARVRQLQAESVSEVVVNRVDVARLPECGSGDGSLQPPRKVQMGAKDATPVPCG
RWAKILEKDKRTQQMRMQRLKAKLQMPFQSGEFKALTRRLQVEPRLLSKQMAGCLEDCTR
QAPESPWEEQLARLLQEAPGKLSLDVEQAPSGQHSQAQLSGQQQRLLAFFKCCLLTDQLP
LAHHLLVVHHGQRQKRKLLTLDMYNAVMLGWARQGAFKELVYVLFMVKDAGLTPDLLSYA
AALQCMGRQDQDAGTIERCLEQMSQEGLKLQALFTAVLLSEEDRATVLKAVHKVKPTFSL
PPQLPPPVNTSKLLRDVYAKDGRVSYPKLHLPLKTLQCLFEKQLHMELASRVCVVSVEKP
TLPSKEVKHARKTLKTLRDQWEKALCRALRETKNRLEREVYEGRFSLYPFLCLLDEREVV
RMLLQVLQALPAQGESFTTLARELSARTFSRHVVQRQRVSGQVQALQNHYRKYLCLLASD
AEVPEPCLPRQYWEELGAPEALREQPWPLPVQMELGKLLAEMLVQATQMPCSLDKPHRSS
RLVPVLYHVYSFRNVQQIGILKPHPAYVQLLEKAAEPTLTFEAVDVPMLCPPLPWTSPHS
GAFLLSPTKLMRTVEGATQHQELLETCPPTALHGALDALTQLGNCAWRVNGRVLDLVLQL
FQAKGCPQLGVPAPPSEAPQPPEAHLPHSAAPARKAELRRELAHCQKVAREMHSLRAEAL
YRLSLAQHLRDRVFWLPHNMDFRGRTYPCPPHFNHLGSDVARALLEFAQGRPLGPHGLDW
LKIHLVNLTGLKKREPLRKRLAFAEEVMDDILDSADQPLTGRKWWMGAEEPWQTLACCME
VANAVRASDPAAYVSHLPVHQDGSCNGLQHYAALGRDSVGAASVNLEPSDVPQDVYSGVA
AQVEVFRRQDAQRGMRVAQVLEGFITRKVVKQTVMTVVYGVTRYGGRLQIEKRLRELSDF
PQEFVWEASHYLVRQVFKSLQEMFSGTRAIQHWLTESARLISHMGSVVEWVTPLGVPVIQ
PYRLDSKVKQIGGGIQSITYTHNGDISRKPNTRKQKNGFPPNFIHSLDSSHMMLTALHCY
RKGLTFVSVHDCYWTHAADVSVMNQVCREQFVRLHSEPILQDLSRFLVKRFCSEPQKILE
ASQLKETLQAVPKPGAFDLEQVKRSTYFFS

Sequence length

1230

Interactions

View interactions

	Reactome
			Mitochondrial transcription initiation Transcriptional activation of mitochondrial biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 55	Pathogenic; Likely pathogenic	rs137994680, rs778201827, rs2144625053, rs748687181, rs55752843, rs745348188, rs750698432, rs2511982267, rs776192083	RCV001836623 RCV001836624 RCV001836625 RCV001836626 RCV001836627 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Autosomal dominant progressive external ophthalmoplegia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLRMT-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive sclerosing poliodystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	23172368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	LHGDN	15258572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37441804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33602924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33602924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33602924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	27783701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	26403317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	26403317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26403317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	26403317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26403317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35358570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	33602924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

POLRMT (RNA polymerase mitochondrial)