TEFM
entrez
79736
canonical
uniprot
Q96QE5
canonical
ensembl
ENSG00000172171
resolver
ensp
ENSP00000462963
resolver
genesymbol
TEFM
resolver
genesymbol_syn
C17orf42
resolver
hgnc
HGNC:26223
resolver
uniprot
E1P655
resolver
uniprot
Q6GPG5
resolver
uniprot
Q6PJ19
resolver
uniprot
Q96H04
resolver
uniprot
Q9H5Z9
resolver
uniprot_entry
TEFM_HUMAN
resolver
uniprot_sec
E1P655
resolver
uniprot_sec
Q6GPG5
resolver
uniprot_sec
Q6PJ19
resolver
uniprot_sec
Q96H04
resolver
uniprot_sec
Q9H5Z9
resolver
amino_acid_sequence
MSGSVLFTAGERWRCFLTPSRSSLYWALHNFCCRKKSTTPKKITPNVTFCDENAKEPENALDKLFSSEQQASILHVLNTASTKELEAFRLLRGRRSINIVEHRENFGPFQNLESLMNVPLFKYKSTVQVCNSILCPKTGREKRKSPENRFLRKLLKPDIERERLKAVNSIISIVFGTRRIAWAHLDRKLTVLDWQQSDRWSLMRGIYSSSVYLEEISSIISKMPKADFYVLEKTGLSIQNSSLFPILLHFHIMEAMLYALLNKTFAQDGQHQVLSMNRNAVGKHFELMIGDSRTSGKELVKQFLFDSILKADPRVFFPSDKIVHYRQMFLSTELQRVEELYDSLLQAIAFYELAVFDSQP
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451]: An autosomal recessive mitochondrial disease manifesting in the first 5 years of life and characterized by a wide range of clinical presentations. Clinical features include neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with non-specific brain abnormalities, or mitochondrial myopathy with a treatable neuromuscular transmission defect. {ECO:0000269|PubMed:36823193}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription elongation factor which increases mitochondrial RNA polymerase processivity (PubMed:21278163, PubMed:36823193). Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery (PubMed:21278163, PubMed:36823193). {ECO:0000269|PubMed:21278163, ECO:0000269|PubMed:36823193}.
uniprot
proteins
mass_dalton
41676
uniprot
proteins
protein_family
TEFM family
uniprot
proteins
pubmed
11468690
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21278163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
36823193
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:21278163}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:21278163}.
uniprot
proteins