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Identification
HMDB Protein ID HMDBP00124
Secondary Accession Numbers
  • 5356
  • HMDBP03479
Name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
Synonyms
  1. 13 kDa differentiation-associated protein
  2. CI-B17.2
  3. CIB17.2
  4. Complex I-B17.2
  5. NADH-ubiquinone oxidoreductase subunit B17.2
Gene Name NDUFA12
Protein Type Enzyme
Biological Properties
General Function Involved in NADH dehydrogenase (ubiquinone) activity
Specific 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
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
catalytic activity
nadh dehydrogenase activity
electron carrier activity
nadh dehydrogenase (quinone) activity
nadh dehydrogenase (ubiquinone) activity
oxidoreductase activity
oxidoreductase activity, acting on nadh or nadph
Cellular Location
  1. Peripheral membrane protein
  2. Mitochondrion inner membrane
  3. Matrix side
Gene Properties
Chromosome Location Chromosome:1
Locus 12q22
SNPs NDUFA12
Gene Sequence
>438 bp
ATGGAGTTAGTGCAGGTCCTGAAACGCGGGCTGCAGCAGATCACCGGCCACGGCGGTCTC
CGAGGCTATCTACGGGTTTTTTTCAGGACAAATGATGCGAAGGTTGGTACATTAGTGGGG
GAAGACAAATATGGAAACAAATACTATGAAGACAACAAGCAATTTTTTGGCCGTCACCGA
TGGGTTGTATATACTACTGAAATGAATGGCAAAAACACATTCTGGGATGTGGATGGAAGC
ATGGTGCCTCCTGAATGGCATCGTTGGCTTCACAGTATGACTGATGATCCTCCAACAACA
AAACCACTTACTGCTCGTAAATTCATTTGGACGAACCATAAATTCAACGTGACTGGCACC
CCAGAACAATATGTACCTTATTCTACCACTAGAAAGAAGATTCAGGAGTGGATCCCACCT
TCAACACCTTACAAGTAA
Protein Properties
Number of Residues 145
Molecular Weight 17114.4
Theoretical pI 10.1
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHR
WVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGT
PEQYVPYSTTRKKIQEWIPPSTPYK
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q9UI09
UniProtKB/Swiss-Prot Entry Name NDUAC_HUMAN
PDB IDs Not Available
GenBank Gene ID AF217092
GeneCard ID NDUFA12
GenAtlas ID NDUFA12
HGNC ID HGNC:23987
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9543-8. [PubMed:10931946 ]
  3. Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA: The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J Biol Chem. 2003 Apr 18;278(16):13619-22. Epub 2003 Feb 28. [PubMed:12611891 ]
  4. Triepels R, Smeitink J, Loeffen J, Smeets R, Trijbels F, van den Heuvel L: Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients. Hum Genet. 2000 Apr;106(4):385-91. [PubMed:10830904 ]