| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase complex assembly factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2016-09-17 10:17:00 | a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. | 24963768 |
| 2016-01-16 10:17:00 | oncogenic K-Ras is able to induce significant alterations in mitochondrial protein expression, and identified NDUFAF1 as an important molecule whose low expression contributes to mitochondrial dysfunction induced by K-Ras. | 25714130 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease | 17557076 |
| 2010-01-21 00:00:00 | Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1. | 17344420 |
| Type | IDs |
|---|---|
| Synonymous | CGI-65, CGI65, CIA30, MC1DN11 |
| Gene |
UniProtKB-ID:
CIA30_HUMAN,
A0A024R9L0_HUMAN
UniprotKB:
Q9Y375,
A0A024R9L0
UniParc:
UPI0000127985
EMBL:
BC000780,
CH471125,
AF151823
Ensembl:
ENSG00000137806
KO:
hsa:51103
|
| Nucleutide sequences |
EMBL-CDS:
AAH00780.1,
AAD34060.1,
EAW92488.1,
EAW92489.1,
EAW92487.1
Gene_ORFName:
CGI-65,
hCG_1786788
Ensembl_TRS:
ENST00000260361
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000260361
RefSeq:
XP_006720618.1,
NP_057097.2,
XP_011519961.1,
XP_011519960.1,
XP_024305713.1
|
| Others |
UniRef100:
UniRef100_Q9Y375
UniRef90:
UniRef90_Q9Y375
UniRef50:
UniRef50_Q9Y375
UniGene:
Hs.106529
CCDS:
CCDS10075.1
|
| {{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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