InnateDB Protein
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IDBP-238185.6
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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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NDUFAF6
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Protein Name
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chromosome 8 open reading frame 38
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379419
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InnateDB Gene
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IDBG-29287 (NDUFAF6)
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Protein Structure
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Function |
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. {ECO:0000269PubMed:18614015, ECO:0000269PubMed:22019594}.
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Subcellular Localization |
Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.Isoform 2: Cytoplasm. Nucleus.
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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:18614015}. 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 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[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 |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002060
Squalene/phytoene synthase
IPR008949
Terpenoid synthase
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PFAM |
PF00494
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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 |
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PhosphoSite |
PhosphoSite-Q330K2
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TrEMBL |
E5RHX9
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UniProt Splice Variant |
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Entrez Gene |
137682
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UniGene |
Hs.737324
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RefSeq |
XP_005250847
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HUGO |
HGNC:28625
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OMIM |
612392
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CCDS |
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HPRD |
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IMGT |
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EMBL |
AC018801
AC068189
AC087752
CH471060
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GenPept |
EAW91735
EAW91736
EAW91737
EAW91738
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