POLRMT

Protein identityUniProt · HPA

UniProt accession

O00411

Gene

POLRMT

Ensembl

ENSG00000099821

Chromosome

19

Canonical length

1230 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1230 residues, UniProt reviewed canonical sequence.

>O00411|POLRMT
     1  MSALCWGRGA AGLKRALRPC GRPGLPGKEG TAGGVCGPRR SSSASPQEQD QDRRKDWGHV
    61  ELLEVLQARV RQLQAESVSE VVVNRVDVAR LPECGSGDGS LQPPRKVQMG AKDATPVPCG
   121  RWAKILEKDK RTQQMRMQRL KAKLQMPFQS GEFKALTRRL QVEPRLLSKQ MAGCLEDCTR
   181  QAPESPWEEQ LARLLQEAPG KLSLDVEQAP SGQHSQAQLS GQQQRLLAFF KCCLLTDQLP
   241  LAHHLLVVHH GQRQKRKLLT LDMYNAVMLG WARQGAFKEL VYVLFMVKDA GLTPDLLSYA
   301  AALQCMGRQD QDAGTIERCL EQMSQEGLKL QALFTAVLLS EEDRATVLKA VHKVKPTFSL
   361  PPQLPPPVNT SKLLRDVYAK DGRVSYPKLH LPLKTLQCLF EKQLHMELAS RVCVVSVEKP
   421  TLPSKEVKHA RKTLKTLRDQ WEKALCRALR ETKNRLEREV YEGRFSLYPF LCLLDEREVV
   481  RMLLQVLQAL PAQGESFTTL ARELSARTFS RHVVQRQRVS GQVQALQNHY RKYLCLLASD
   541  AEVPEPCLPR QYWEELGAPE ALREQPWPLP VQMELGKLLA EMLVQATQMP CSLDKPHRSS
   601  RLVPVLYHVY SFRNVQQIGI LKPHPAYVQL LEKAAEPTLT FEAVDVPMLC PPLPWTSPHS
   661  GAFLLSPTKL MRTVEGATQH QELLETCPPT ALHGALDALT QLGNCAWRVN GRVLDLVLQL
   721  FQAKGCPQLG VPAPPSEAPQ PPEAHLPHSA APARKAELRR ELAHCQKVAR EMHSLRAEAL
   781  YRLSLAQHLR DRVFWLPHNM DFRGRTYPCP PHFNHLGSDV ARALLEFAQG RPLGPHGLDW
   841  LKIHLVNLTG LKKREPLRKR LAFAEEVMDD ILDSADQPLT GRKWWMGAEE PWQTLACCME
   901  VANAVRASDP AAYVSHLPVH QDGSCNGLQH YAALGRDSVG AASVNLEPSD VPQDVYSGVA
   961  AQVEVFRRQD AQRGMRVAQV LEGFITRKVV KQTVMTVVYG VTRYGGRLQI EKRLRELSDF
  1021  PQEFVWEASH YLVRQVFKSL QEMFSGTRAI QHWLTESARL ISHMGSVVEW VTPLGVPVIQ
  1081  PYRLDSKVKQ IGGGIQSITY THNGDISRKP NTRKQKNGFP PNFIHSLDSS HMMLTALHCY
  1141  RKGLTFVSVH DCYWTHAADV SVMNQVCREQ FVRLHSEPIL QDLSRFLVKR FCSEPQKILE
  1201  ASQLKETLQA VPKPGAFDLE QVKRSTYFFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLRMT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

66 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLRMT.

Disease | AllUniProt

Conditions POLRMT is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 55 (COXPD55) MIM:619743

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 474 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation deficiency 55
• Neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

-1.87

DepMap mean gene effect

-0.54

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial DNA replication
• mitochondrial transcription
• transcription initiation at mitochondrial promoter

Molecular functions

• 3'-5'-RNA exonuclease activity
• DNA-directed RNA polymerase activity
• mitochondrial promoter sequence-specific DNA binding
• RNA binding
• sequence-specific DNA binding

Cellular components

• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion
• protein-containing complex
• mitochondrial DNA-directed RNA polymerase complex

Protein domainsUniProt · Pfam · InterPro

• Tetratricopeptide-like helical domain superfamily
• DNA/RNA polymerase superfamily
• DNA-directed RNA polymerase, phage-type
• DNA-directed RNA polymerase, N-terminal
• DNA-directed RNA polymerase, N-terminal domain superfamily
• DNA-directed RNA polymerase, C-terminal domain, phage-type
• DNA-dependent RNA polymerase
• DNA-directed RNA polymerase N-terminal

KeywordsUniProt

• DNA-directed RNA polymerase
• Mitochondrion
• Nucleotidyltransferase
• Primary mitochondrial disease
• Transcription
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of POLRMT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MTRES1
• TEFM
• TFB1M
• TFB2M
• NFKBIA