InnateDB Protein
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IDBP-20939.6
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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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NDUFA11
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Protein Name
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NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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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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ENSP00000311740
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InnateDB Gene
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IDBG-20935 (NDUFA11)
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Protein Structure
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Function |
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). {ECO:0000250}.
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Subcellular Localization |
Mitochondrion inner membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.
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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:18306244}. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[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 |
IPR003397
Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24
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PFAM |
PF02466
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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 |
Q86Y39
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PhosphoSite |
PhosphoSite-Q86Y39
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
126328
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UniGene |
Hs.406062
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RefSeq |
NP_783313
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HUGO |
HGNC:20371
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OMIM |
612638
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CCDS |
CCDS12155
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HPRD |
14818
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IMGT |
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EMBL |
AC024592
AC104532
AJ539081
AK127692
BC069045
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GenPept |
AAH69045
BAC87088
CAD62165
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