| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase core subunit S3 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-06 11:11:00 | We observed loss of NDUFB8 immunoreactivity in all patients with mutations affecting nuclear-encoding structural subunits and assembly factors, whilst only 3 of the 10 patients with mutations affecting mtDNA-encoded structural subunits showed loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and IHC using an alternative, commercially-available CI (NDUFS3) antibody. | 29142257 |
| 2018-12-22 11:08:00 | identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study. | 30140060 |
| 2018-10-06 10:15:00 | The results suggest that the impaired mitochondrial activity could be due to the broken interaction between DJ-1 and NDUFS3 and that downregulation of DJ-1 in sperm and testes contributes to AS pathogenesis. | 29849492 |
| 2018-06-02 11:20:00 | The NDUFS3 expressed in the temporal cortex in patient with late-onset Alzheimer's disease. | 28242297 |
| 2015-12-05 10:05:00 | High NDUFS3 expression is associated with IgA nephropathy. | 25770168 |
| Type | IDs |
|---|---|
| Synonymous | CI-30, MC1DN8 |
| Gene |
UniProtKB-ID:
NDUS3_HUMAN
UniprotKB:
O75489
UniParc:
UPI00017A6F35,
UPI0000130930
EMBL:
AF100743,
AK313802,
AC104942,
BC000617,
AK294167,
AC090559,
AF200954,
CH471064,
AF067139
Ensembl:
ENSG00000213619,
ENSG00000285387
KO:
hsa:4722
|
| Nucleutide sequences |
EMBL-CDS:
AAC27451.1,
EAW67895.1,
BAG36538.1,
BAG57489.1,
AAD40386.1,
AAG17541.1,
AAH00617.1
Ensembl_TRS:
ENST00000646736,
ENST00000263774,
ENST00000534716,
ENST00000645714
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000434970,
ENSP00000494074,
ENSP00000496383,
ENSP00000263774
RefSeq:
NP_004542.1
|
| Others |
UniRef100:
UniRef100_O75489
UniRef90:
UniRef90_O75489
UniRef50:
UniRef50_O75489
UniGene:
Hs.502528
CCDS:
CCDS7941.1
|
| {{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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