POLRMT
entrez
5442
canonical
uniprot
O00411
canonical
ensembl
ENSG00000099821
resolver
ensp
ENSP00000465759
resolver
ensp
ENSP00000548835
resolver
ensp
ENSP00000548836
resolver
ensp
ENSP00000548837
resolver
ensp
ENSP00000548838
resolver
ensp
ENSP00000548840
resolver
ensp
ENSP00000548842
resolver
ensp
ENSP00000548847
resolver
ensp
ENSP00000548849
resolver
ensp
ENSP00000597115
resolver
ensp
ENSP00000597116
resolver
ensp
ENSP00000628722
resolver
enst
ENST00000588649
resolver
genesymbol
POLRMT
resolver
hgnc
HGNC:9200
resolver
uniprot
O60370
resolver
uniprot
Q4G0F4
resolver
uniprot_entry
Q4G0F4_HUMAN
resolver
uniprot_entry
RPOM_HUMAN
resolver
uniprot_sec
O60370
resolver
amino_acid_sequence
MSALCWGRGAAGLKRALRPCGRPGLPGKEGTAGGVCGPRRSSSASPQEQDQDRRKDWGHVELLEVLQARVRQLQAESVSEVVVNRVDVARLPECGSGDGSLQPPRKVQMGAKDATPVPCGRWAKILEKDKRTQQMRMQRLKAKLQMPFQSGEFKALTRRLQVEPRLLSKQMAGCLEDCTRQAPESPWEEQLARLLQEAPGKLSLDVEQAPSGQHSQAQLSGQQQRLLAFFKCCLLTDQLPLAHHLLVVHHGQRQKRKLLTLDMYNAVMLGWARQGAFKELVYVLFMVKDAGLTPDLLSYAAALQCMGRQDQDAGTIERCLEQMSQEGLKLQALFTAVLLSEEDRATVLKAVHKVKPTFSLPPQLPPPVNTSKLLRDVYAKDGRVSYPKLHLPLKTLQCLFEKQLHMELASRVCVVSVEKPTLPSKEVKHARKTLKTLRDQWEKALCRALRETKNRLEREVYEGRFSLYPFLCLLDEREVVRMLLQVLQALPAQGESFTTLARELSARTFSRHVVQRQRVSGQVQALQNHYRKYLCLLASDAEVPEPCLPRQYWEELGAPEALREQPWPLPVQMELGKLLAEMLVQATQMPCSLDKPHRSSRLVPVLYHVYSFRNVQQIGILKPHPAYVQLLEKAAEPTLTFEAVDVPMLCPPLPWTSPHSGAFLLSPTKLMRTVEGATQHQELLETCPPTALHGALDALTQLGNCAWRVNGRVLDLVLQLFQAKGCPQLGVPAPPSEAPQPPEAHLPHSAAPARKAELRRELAHCQKVAREMHSLRAEALYRLSLAQHLRDRVFWLPHNMDFRGRTYPCPPHFNHLGSDVARALLEFAQGRPLGPHGLDWLKIHLVNLTGLKKREPLRKRLAFAEEVMDDILDSADQPLTGRKWWMGAEEPWQTLACCMEVANAVRASDPAAYVSHLPVHQDGSCNGLQHYAALGRDSVGAASVNLEPSDVPQDVYSGVAAQVEVFRRQDAQRGMRVAQVLEGFITRKVVKQTVMTVVYGVTRYGGRLQIEKRLRELSDFPQEFVWEASHYLVRQVFKSLQEMFSGTRAIQHWLTESARLISHMGSVVEWVTPLGVPVIQPYRLDSKVKQIGGGIQSITYTHNGDISRKPNTRKQKNGFPPNFIHSLDSSHMMLTALHCYRKGLTFVSVHDCYWTHAADVSVMNQVCREQFVRLHSEPILQDLSRFLVKRFCSEPQKILEASQLKETLQAVPKPGAFDLEQVKRSTYFFS
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743]: A mitochondrial disease characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia may be present in some patients. COXPD55 transmission pattern is consistent with autosomal dominant inheritance in some families, and with autosomal recessive inheritance in others. {ECO:0000269|PubMed:33602924}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.6
uniprot
proteins
function
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, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Has DNA primase activity (PubMed:18685103, PubMed:33602924). Catalyzes the synthesis of short RNA primers that are necessary for the initiation of lagging-strand DNA synthesis from the origin of light-strand DNA replication (OriL) (PubMed:18685103, PubMed:33602924). {ECO:0000269|PubMed:18685103, ECO:0000269|PubMed:21278163, ECO:0000269|PubMed:29149603, ECO:0000269|PubMed:33602924}.
uniprot
proteins
mass_dalton
138620
uniprot
proteins
protein_family
Phage and mitochondrial RNA polymerase family
uniprot
proteins
pubmed
12068295
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
18685103
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21278163
uniprot
proteins
pubmed
23283301
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29149603
uniprot
proteins
pubmed
29445193
uniprot
proteins
pubmed
31226201
uniprot
proteins
pubmed
33602924
uniprot
proteins
pubmed
9097968
uniprot
proteins
sequence_length
1230
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:29445193}.
uniprot
proteins