| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase complex assembly factor 4 |
| Date | Results | Publications |
|---|---|---|
| 2018-02-03 10:04:00 | A homozygous missense NDUFAF4 variant was identified in a complex I-deficient patient with Leigh syndrome. | 28853723 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | HRPAP20 and TIMELESS as promising markers of tamoxifen resistance in women with ER alpha-positive breast tumors. | 17909269 |
| 2010-01-21 00:00:00 | observations suggest that HRPAP20 may be an important regulator of breast tumor cell invasion by a CaM-mediated mechanism that leads to increased MMP-9 secretion | 17001319 |
| 2010-01-21 00:00:00 | Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. | 19463981 |
| Type | IDs |
|---|---|
| Synonymous | C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1 |
| Gene |
UniProtKB-ID:
NDUF4_HUMAN
UniprotKB:
Q9P032
UniParc:
UPI0000049FC8
EMBL:
BC039464,
AF060508,
AL159985,
CH471051,
AF161474,
AK311850
Ensembl:
ENSG00000123545
KO:
hsa:29078
|
| Nucleutide sequences |
EMBL-CDS:
AAG43126.1,
AAF29089.1,
EAW48501.1,
AAH39464.1,
BAG34792.1
Gene_ORFName:
My013,
HSPC125
Ensembl_TRS:
ENST00000316149
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358272
RefSeq:
NP_054884.1
|
| Others |
UniRef100:
UniRef100_Q9P032
UniRef90:
UniRef90_Q9P032
UniRef50:
UniRef50_Q9P032
UniGene:
Hs.512144
CCDS:
CCDS5037.1
|
| {{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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