TEFM (transcription elongation factor, mitochondrial)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79736
Gene name Transcription elongation factor, mitochondrial
Gene symbol TEFM
Synonyms (NCBI Gene)
C17orf42COXPD58
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT050920 hsa-miR-17-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0002082 Process Regulation of oxidative phosphorylation IMP 21278163
GO:0003676 Function Nucleic acid binding IEA
GO:0003711 Function Transcription elongation factor activity IDA 21278163
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 21278163
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616422 26223 ENSG00000172171
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QE5
Protein name Transcription elongation factor, mitochondrial
Protein 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 machin
PDB 5OL8 , 5OL9 , 5OLA , 8U8U , 8U8V , 9BDC , 9BDD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12836 HHH_3 76 → 132 Domain
Sequence 
MSGSVLFTAGERWRCFLTPSRSSLYWALHNFCCRKKSTTPKKITPNVTFCDENAKEPENA
LDKLFSSEQQASILHVLNTASTKELEAFRLLRGRRSINIVEHRENFGPFQNLESLMNVPL
FKYKSTVQVCNSILCPKTGREKRKSPENRFLRKLLKPDIERERLKAVNSIISIVFGTRRI
AWAHLDRKLTVLDWQQSDRWSLMRGIYSSSVYLEEISSIISKMPKADFYVLEKTGLSIQN
SSLFPILLHFHIMEAMLYALLNKTFAQDGQHQVLSMNRNAVGKHFELMIGDSRTSGKELV
KQFLFDSILKADPRVFFPSDKIVHYRQMFLSTELQRVEELYDSLLQAIAFYELAVFDSQP
Sequence length 360
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Uncertain significance rs200291958 RCV005928801
Sarcoma Uncertain significance rs200291958 RCV005928802
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Neuromuscular Junction Diseases Associate 37721175