| Type | Description |
|---|---|
| Definition | tetratricopeptide repeat domain 19 |
| Date | Results | Publications |
|---|---|---|
| 2017-09-23 12:25:00 | TTC19 preserves the structural and functional integrity of mitochondrial respiratory complex III. UQCRFS1 produces N-terminal polypeptides, which remain bound to holocomplex III. UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment. | 28673544 |
| 2016-02-20 11:41:00 | TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review) | 25899669 |
| 2016-01-23 10:07:00 | This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis. | 25887401 |
| 2014-09-27 10:59:00 | A TTC19 mutation in spinocerebellar ataxia is identified in an Asian population. | 24397319 |
| 2013-12-21 11:17:00 | The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts. | 23532514 |
| Type | IDs |
|---|---|
| Synonymous | 2010204O13Rik, MC3DN2 |
| Gene |
UniProtKB-ID:
TTC19_HUMAN,
A0A024RD83_HUMAN
UniprotKB:
Q6DKK2,
A0A024RD83
UniParc:
UPI0000042226
EMBL:
BC112107,
BC011698,
AK297783,
AK055780,
BC105128,
BC073796,
AK000350,
AC002553,
AK025958,
AC006251,
CH471222,
AK056878
Ensembl:
ENSG00000011295
KO:
hsa:54902
|
| Nucleutide sequences |
EMBL-CDS:
BAB15296.1,
AAI05129.1,
BAG60127.1,
BAA91103.1,
BAG51820.1,
AAH11698.2,
BAG51574.1,
AAI12108.1,
EAX04490.1,
AAH73796.1,
EAX04491.1
Gene_ORFName:
hCG_28939
Ensembl_TRS:
ENST00000261647
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261647
RefSeq:
NP_001258349.1,
XP_016880291.2,
XP_024306582.1,
XP_016880290.2,
NP_060245.3
|
| Others |
UniRef100:
UniRef100_Q6DKK2
UniRef90:
UniRef90_Q6DKK2
UniRef50:
UniRef50_Q6DKK2
UniGene:
Hs.462316
CCDS:
CCDS11174.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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