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TTC19 (tetratricopeptide repeat domain 19)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54902
Gene nameGene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 19
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TTC19
SynonymsGene synonyms aliases
2010204O13Rik, MC3DN2
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p12
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions includ
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs147111211 A>G Conflicting-interpretations-of-pathogenicity Missense variant, genic downstream transcript variant, coding sequence variant
rs387907094 C>T Pathogenic Stop gained, coding sequence variant
rs747166010 T>G Pathogenic Coding sequence variant, stop gained
rs794726691 GGCT>- Pathogenic Coding sequence variant, frameshift variant
rs794726692 C>T Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047845 hsa-miR-30c-5p CLASH 23622248
MIRT573201 hsa-miR-561-3p PAR-CLIP 20371350
MIRT573200 hsa-miR-129-5p PAR-CLIP 20371350
MIRT573200 hsa-miR-129-5p HITS-CLIP 27418678
MIRT573201 hsa-miR-561-3p PAR-CLIP 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis TAS 20208530
GO:0005515 Function Protein binding IPI 16713569, 20208530, 23414517, 25416956, 28514442, 32296183, 32814053
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0005743 Component Mitochondrial inner membrane IDA 21278747
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6DKK2
Protein name Tetratricopeptide repeat protein 19, mitochondrial (TPR repeat protein 19)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13424 TPR_12
244 311
Repeat
Sequence
MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPPSRVAPHGRGPGLLPLL
AALAWFSRPAAAEEEEQQGADGAAAEDGADEAEAEIIQLLKRAKLSIMKDEPEEAELILH
DALRLAYQTDNKKAITYTYDLMANLAFIRGQLENAEQLFKATMSYLLGGGMKQEDNAIIE
ISLKLASIYAAQNRQEFAVAGYEFCISTLEEKIEREKELAEDIMSVEEKANTHLLLGMCL
DACARYLLFSKQPSQAQRMYEKALQISEEIQGERHPQTIVLMSDLATTLDAQGRFDEAYI
YMQRASDLARQ
INHPELHMVLSNLAAVLMHRERYTQAKEIYQEALKQAKLKKDEISVQHI
REELAELSKKSRPLTNSVKL
Sequence length 380
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Leigh syndrome Leigh Disease, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, Leigh Syndrome Due To Mitochondrial Complex II Deficiency, Leigh Syndrome due to Mitochondrial Complex III Deficiency, Leigh Syndrome due to Mitochondrial Complex IV Deficiency, Leigh Syndrome due to Mitochondrial Complex V Deficiency rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953 29961508, 28673544, 25887401, 25613900, 24397319, 21278747, 25772319, 25452764, 25772319, 29961508, 24397319, 21278747, 25613900, 28673544, 25452764, 25887401, 28673544, 25887401, 29961508, 25772319, 24397319, 25452764, 21278747, 25613900, 21278747, 25887401, 29961508, 25452764, 24397319, 25613900, 28673544, 25772319, 21278747, 25613900, 24397319, 28673544, 25887401, 25452764, 29961508, 25772319, 24397319, 25887401, 21278747, 25772319, 29961508, 28673544, 25452764, 25613900
Mitochondrial complex deficiency MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863, rs1554076324, rs104894554, rs1561102614, rs267606913, rs28939714, rs104894270, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908579, rs121908580, rs144885874, rs587776629, rs104894630, rs121434428, rs121434429, rs1445075330, rs121908985, rs104893898, rs104893899, rs28939679, rs121912639, rs1168752295, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs104894705, rs121434479, rs1568985256, rs9809219, rs137852767, rs1061517, rs137852768, rs28384199, rs267606890, rs267606888, rs104894884, rs104894885, rs121913659, rs768050261, rs121913660, rs121913661, rs397515383, rs199422224, rs199592341, rs387906872, rs387906873, rs387906929, rs387906956, rs368949613, rs115532916, rs377022708, rs1586636643, rs387907070, rs387907087, rs747166010, rs387907094, rs587776904, rs387907139, rs387907199, rs397514617, rs397514618, rs587776949, rs374661051, rs879255565, rs751631278, rs552722349, rs397515447, rs372691318, rs587777004, rs776388520, rs587777041, rs587777042, rs398124308, rs794726691, rs794726692, rs587777220, rs752513525, rs587777410, rs587777433, rs142441643, rs587777784, rs587777785, rs587777787, rs606231426, rs786205436, rs765093638, rs796052056, rs201430951, rs370009373, rs377025174, rs747956412, rs757982865, rs768720209, rs757486575, rs750831299, rs863224123, rs576780935, rs863224844, rs753711253, rs149753643, rs150283105, rs869025602, rs869025603, rs869025604, rs869025605, rs531254130, rs761389904, rs876658477, rs886037835, rs141542003, rs746165168, rs878854628, rs142609245, rs573006534, rs886037857, rs150613320, rs766454175, rs752670374, rs768768823, rs749196764, rs1057516255, rs1057519073, rs1057519414, rs1057519415, rs757043077, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs199683937, rs776838028, rs367956888, rs1057521059, rs199754807, rs777501387, rs150966634, rs770131276, rs1555834773, rs1085307492, rs1131691065, rs781525096, rs370411488, rs1135402749, rs151279101, rs1555338209, rs1555695342, rs1555530551, rs1555703272, rs749110767, rs1348957889, rs867410737, rs1569463838, rs758833609, rs750830935, rs1023075742, rs1554599411, rs1555745989, rs376281345, rs772294726, rs1554076306, rs1554076309, rs536758576, rs765915512, rs1555066709, rs567437692, rs1239013578, rs1554843251, rs1554843434, rs781099275, rs763006208, rs747359752, rs3210083, rs1568344751, rs1242465339, rs1568346416, rs1485032272, rs750971390, rs767543623, rs1597176845, rs138275059, rs1171276645, rs1318084629, rs1598367619, rs1598368033, rs745332456, rs778516878, rs1603223730, rs146599698, rs1321888585, rs1579936916, rs1411237396, rs1591111808, rs1592704794, rs1600305570, rs1411381518, rs1426201422, rs759254294, rs1906247824, rs770749420, rs766026673, rs1475753965, rs1970827483 27604308, 21278747
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety
Cerebellar atrophy Cerebellar atrophy
Cerebral atrophy Cerebral atrophy
Degenerative diseases, central nervous system Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord 21278747

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