InnateDB Protein
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IDBP-239529.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NDUFAF3
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Protein Name
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NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3
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Synonyms
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2P1; C3orf60; E3-3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000378843
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InnateDB Gene
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IDBG-34076 (NDUFAF3)
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Protein Structure
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Function |
Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). {ECO:0000269PubMed:19463981}.
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Subcellular Localization |
Nucleus {ECO:0000250}. Mitochondrion inner membrane {ECO:0000269PubMed:19463981}.
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Disease Associations |
Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269PubMed:19463981}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
14
[view]
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Protein-Protein |
14
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0032981
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mitochondrial respiratory chain complex I assembly
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Cellular Component |
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PDB ID |
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InterPro |
IPR007523
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
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PFAM |
PF04430
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BU61
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PhosphoSite |
PhosphoSite-Q9BU61
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TrEMBL |
A4FU71
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UniProt Splice Variant |
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Entrez Gene |
25915
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UniGene |
Hs.31387
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RefSeq |
NP_951047
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HUGO |
HGNC:29918
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OMIM |
612911
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CCDS |
CCDS2785
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HPRD |
16809
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IMGT |
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EMBL |
BC002873
BC111004
BQ652614
CH471055
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GenPept |
AAH02873
AAI11005
EAW64944
EAW64945
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