POLRMT (RNA polymerase mitochondrial)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5442
• Gene name: RNA polymerase mitochondrial
• Gene symbol: POLRMT
• Synonyms (NCBI Gene): APOLMT, COXPD55, MTRNAP, MTRPOL, h-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

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 601778
• HGNC: 9200
• e!Ensembl: ENSG00000099821

Protein

• UniProt ID: 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
  PF00940	RNA_pol	831 → 1230	DNA-dependent RNA polymerase	Family
  PF14700	RPOL_N	411 → 704	DNA-directed RNA polymerase N-terminal	Domain

• 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

Pathways

Reactome Pathway

Mitochondrial transcription initiation

Transcriptional activation of mitochondrial biogenesis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Combined oxidative phosphorylation deficiency 55	Pathogenic; Likely pathogenic	rs137994680, rs778201827, rs2144625053, rs748687181, rs55752843, rs745348188, rs750698432, rs2511982267, rs776192083	RCV001836623 RCV001836624 RCV001836625 RCV001836626 RCV001836627 RCV001836629 RCV001836630 RCV003458942 RCV004560461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TFB2M 2 shared pathwaysTranscriptional activation of mitochondrial biogenesis, Mitochondrial transcription initiation Related via 2 shared pathways including Transcriptional activation of mitochondrial biogenesis, Mitochondrial transcription initiation. TEFM 1 shared diseaseCombined oxidative phosphorylation deficiency 3 shared evidence sourcesClinVar (Combined oxidative phosphorylation deficiency), Disgenet (Combined oxidative phosphorylation deficiency), HPO (Combined oxidative phosphorylation deficiency) Related via 1 shared disease including Combined oxidative phosphorylation deficiency — evidence mostly ClinVar. TXN2 1 shared diseaseCombined oxidative phosphorylation deficiency 4 shared evidence sourcesClinVar (Combined oxidative phosphorylation deficiency), Disgenet (Combined oxidative phosphorylation deficiency), Orphanet (Combined oxidative phosphorylation deficiency), HPO (Combined oxidative phosphorylation deficiency) Related via 1 shared disease including Combined oxidative phosphorylation deficiency — evidence mostly ClinVar. GATB 1 shared diseaseCombined oxidative phosphorylation deficiency 3 shared evidence sourcesClinVar (Combined oxidative phosphorylation deficiency), Disgenet (Combined oxidative phosphorylation deficiency), HPO (Combined oxidative phosphorylation deficiency) Related via 1 shared disease including Combined oxidative phosphorylation deficiency — evidence mostly ClinVar. GATC 1 shared diseaseCombined oxidative phosphorylation deficiency 3 shared evidence sourcesClinVar (Combined oxidative phosphorylation deficiency), Disgenet (Combined oxidative phosphorylation deficiency), HPO (Combined oxidative phosphorylation deficiency) Related via 1 shared disease including Combined oxidative phosphorylation deficiency — evidence mostly ClinVar.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TFB2M	0	[]	2	["Transcriptional activation of mitochondrial biogenesis","Mitochondrial transcription initiation"]	0	[]
TEFM	1	["Combined oxidative phosphorylation deficiency"]	0	[]	3	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)"]
TXN2	1	["Combined oxidative phosphorylation deficiency"]	0	[]	4	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","Orphanet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)"]
GATB	1	["Combined oxidative phosphorylation deficiency"]	0	[]	3	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)"]
GATC	1	["Combined oxidative phosphorylation deficiency"]	0	[]	3	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)"]

Diseases Linked via Similar Genes

Breast cancer Linked via 1 of 5 related genesTEFM Lung cancer Linked via 1 of 5 related genesTEFM Alzheimer disease Linked via 1 of 5 related genesGATB Attention deficit hyperactivity disorder Linked via 1 of 5 related genesGATB Autism Linked via 1 of 5 related genesGATB

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	1	["TEFM"]
Lung cancer	1	["TEFM"]
Alzheimer disease	1	["GATB"]
Attention deficit hyperactivity disorder	1	["GATB"]
Autism	1	["GATB"]