| Type | Description |
|---|---|
| Definition | mitochondrial contact site and cristae organizing system subunit 13 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-25 13:18:00 | Taken together, these data provide the first evidence of altered mitochondrial contact site assembly linked with a human mitochondrial disease and confirm a central role for QIL1 in stable mitochondrial contact site complex formation. | 27623147 |
| 2017-08-26 10:27:00 | MIC13 has a fundamental role in crista junction formation and that assembly of respiratory chain supercomplexes is independent of mitochondrial cristae shape. | 27479602 |
| 2017-07-15 12:11:00 | Mitochondrial hepato-encephalopathy patients were found to be homozygous for the p.(Gly15Glufs*75) variant in the QIL1 . QIL1 deficiency is associated with disassembly of the MICOS complex, aberration of cristae morphology and mitochondrial respiratory dysfunction. | 27485409 |
| 2016-01-30 12:00:00 | we identified QIL1 (C19orf70) as a novel conserved MICOS subunit. | 25997101 |
| Type | IDs |
|---|---|
| Synonymous | C19orf70, MIC13, P117, QIL1 |
| Gene |
UniProtKB-ID:
MIC13_HUMAN,
A0A140TA84_HUMAN,
A0A140TA86_HUMAN
UniprotKB:
Q5XKP0,
A0A140TA84,
A0A140TA86
UniParc:
UPI0000034FEA,
UPI000284097B,
UPI00003D0D04
EMBL:
CH471139,
AB167391,
AC011499,
BC009557,
BC042386
Ensembl:
ENSG00000174917
KO:
hsa:125988
|
| Nucleutide sequences |
EMBL-CDS:
AAH42386.1,
AAH09557.1,
EAW69159.1,
BAE80091.1
Ensembl_TRS:
ENST00000309324,
ENST00000590389,
ENST00000587950
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000309561,
ENSP00000465739,
ENSP00000468723
RefSeq:
NP_001295169.1,
XP_011525977.1,
NP_991330.1,
NP_001352690.1
|
| Others |
UniRef100:
UniRef100_Q5XKP0,
UniRef100_A0A140TA86
UniRef90:
UniRef90_A0A140TA86,
UniRef90_Q5XKP0
UniRef50:
UniRef50_Q5XKP0
UniGene:
Hs.356626
CCDS:
CCDS12143.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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