| NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa | OKDB#: 5178 |
| Symbols: | NDUFA1 | Species: | human | ||
| Synonyms: | MWFE, ZNF183, CI-MWFE | Locus: | Xq24 in Homo sapiens |
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| General Comment | NCBI Summary: The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008] | ||||
| General function | Energy pathways, Enzyme | ||||
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| Cellular localization | Cytoplasmic | ||||
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| Ovarian function | |||||
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| Expression regulated by | |||||
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| Ovarian localization | Cumulus | ||||
| Comment | Impact of maternal aging on the molecular signature of human cumulus cells. McReynolds S et al. (2012) To investigate the impact of maternal aging on the molecular signature of cumulus cells. Experimental study. Research laboratory. Patients, young fertile oocyte donors (n = 40) and infertile women of advanced maternal age (40-45 years; n = 48), donated, with Institutional Review Board consent, cumulus cells during routine infertility treatment. None. Proteomic and gene expression profiles of cumulus cells. Proteomic analysis identified a total of 1,423 cumulus cell proteins. Statistical analysis revealed 110 (7.7%) proteins to be differentially expressed in relation to female aging (>1.5-fold change). Pathway annotation revealed significant involvement in metabolism (ACAT2, HSD17B4, ALDH9A1, MVK, CYP11A1, and FDFT1), oxidative phosphorylation (OP; NDUFA1, UQCRC1, MT-ATP6, ATP5I, and MT-ATP8), and post-transcriptional mechanisms (KHSRP, SFPQ, DDX46, SNRPF, ADAR, NHPL1, and U2AF2) relative to advanced maternal age. Gene expression analysis also revealed altered profiles in cumulus cells from women in their early to mid-40s. This novel study reveals that the cumulus cell molecular signature, at both the gene and protein level, is impacted by advanced maternal aging. A compromised follicular environment is evident with altered energy metabolism and post-transcriptional processes.////////////////// | ||||
| Follicle stages | |||||
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| Phenotypes | |||||
| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | April 17, 2015, 1:21 p.m. | by: |
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| last update: | April 17, 2015, 1:22 p.m. | by: | hsueh email: |
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