TTC19
entrez
54902
canonical
uniprot
Q6DKK2
canonical
ensembl
ENSG00000011295
resolver
ensp
ENSP00000261647
resolver
ensp
ENSP00000677713
resolver
ensp
ENSP00000788298
resolver
enst
ENST00000261647
resolver
genesymbol
TTC19
resolver
hgnc
HGNC:26006
resolver
uniprot
A8MZ52
resolver
uniprot
B3KP62
resolver
uniprot
B4DN65
resolver
uniprot
Q2M248
resolver
uniprot
Q7L3U8
resolver
uniprot
Q9H6G3
resolver
uniprot
Q9NXB2
resolver
uniprot_entry
TTC19_HUMAN
resolver
uniprot_sec
A8MZ52
resolver
uniprot_sec
B3KP62
resolver
uniprot_sec
B4DN65
resolver
uniprot_sec
Q2M248
resolver
uniprot_sec
Q7L3U8
resolver
uniprot_sec
Q9H6G3
resolver
uniprot_sec
Q9NXB2
resolver
amino_acid_sequence
MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPPSRVAPHGRGPGLLPLLAALAWFSRPAAAEEEEQQGADGAAAEDGADEAEAEIIQLLKRAKLSIMKDEPEEAELILHDALRLAYQTDNKKAITYTYDLMANLAFIRGQLENAEQLFKATMSYLLGGGMKQEDNAIIEISLKLASIYAAQNRQEFAVAGYEFCISTLEEKIEREKELAEDIMSVEEKANTHLLLGMCLDACARYLLFSKQPSQAQRMYEKALQISEEIQGERHPQTIVLMSDLATTLDAQGRFDEAYIYMQRASDLARQINHPELHMVLSNLAAVLMHRERYTQAKEIYQEALKQAKLKKDEISVQHIREELAELSKKSRPLTNSVKL
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex III deficiency, nuclear type 2 (MC3DN2) [MIM:615157]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269|PubMed:21278747}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544). {ECO:0000269|PubMed:21278747, ECO:0000269|PubMed:28673544}.
uniprot
proteins
mass_dalton
42457
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved by PARL. {ECO:0000269|PubMed:28288130}.
uniprot
proteins
protein_family
TTC19 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
20208530
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21278747
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28288130
uniprot
proteins
pubmed
28673544
uniprot
proteins
sequence_length
380
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:21278747}.
uniprot
proteins