Hmdb loader
Identification
HMDB Protein ID HMDBP08886
Secondary Accession Numbers
  • 14614
Name Complex I intermediate-associated protein 30, mitochondrial
Synonyms
  1. NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1
Gene Name NDUFAF1
Protein Type Enzyme
Biological Properties
General Function Involved in unfolded protein binding
Specific Function Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I)
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Mitochondrion (Probable)
Gene Properties
Chromosome Location Chromosome:1
Locus 15q11.2-q21.3
SNPs NDUFAF1
Gene Sequence
>984 bp
ATGGCTTTGGTTCACAAATTGCTGCATGGTACTTATTTTCTCAGAAAATTCTCTAAGCCA
ACTTCTGCCTTGTATCCATTTTTGGGTATCCGCTTTGCAGAGTATTCCAGTAGTCTTCAG
AAACCAGTGGCTTCTCCTGGCAAAGCCTCCTCACAGAGGAAGACTGAAGGGGATTTGCAA
GGAGATCACCAGAAAGAAGTTGCTTTGGATATAACTTCTTCTGAGGAGAAGCCTGATGTT
AGTTTCGATAAAGCAATTAGAGATGAAGCAATATACCATTTTAGGCTTTTGAAGGATGAA
ATTGTGGATCATTGGAGAGGACCGGAAGGCCACCCTCTGCATGAGGTCTTGCTGGAACAA
GCCAAGGTTGTCTGGCAATTCCGGGGGAAAGAAGATTTGGATAAGTGGACAGTGACTTCT
GATAAGACGATTGGAGGCAGAAGTGAAGTGTTTTTGAAAATGGGCAAGAATAACCAAAGT
GCACTGCTATATGGAACTCTGAGCTCTGAGGCGCCTCAGGACGGCGAGTCTTCCCGAAGT
GGGTACTGTGCAATGATATCCAGGATTCCAAGGGGTGCTTTTAAGAGGAAGATGTCTTAC
GATTGGTCCCAGTTCAATACTCTGTATCTCCGTGTACGTGGGGATGGTCGGCCTTGGATG
GTGAATATCAAGGAGGACACAGATTTCTTCCAGAGGACGAATCAGATGTATAGTTACTTC
ATGTTCACCCGCGGGGGACCCTACTGGCAGGAGGTCAAGATTCCTTTTTCCAAATTTTTC
TTCTCTAATCGAGGAAGAATCCGGGATGTTCAGCATGAGCTTCCGCTTGATAAGATCTCT
TCTATAGGATTCACCTTGGCTGATAAAGTGGATGGTCCATTCTTCCTGGAGATAGATTTT
ATTGGCGTGTTTACTGATCCAGCTCATACAGAAGAATTTGCCTATGAAAATTCTCCAGAG
CTTAACCCAAGGCTTTTTAAATAA
Protein Properties
Number of Residues 327
Molecular Weight 37763.4
Theoretical pI 7.8
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Complex I intermediate-associated protein 30, mitochondrial
MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQ
GDHQKEVALDITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQ
AKVVWQFRGKEDLDKWTVTSDKTIGGRSEVFLKMGKNNQSALLYGTLSSEAPQDGESTRS
GYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRPWMVNIKEDTDFFQRTNQMYSYF
MFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKISSIGFTLADKVDGPFFLEIDF
IGVFTDPAHTEEFAYENSPELNPRLFK
GenBank ID Protein 4929599
UniProtKB/Swiss-Prot ID Q9Y375
UniProtKB/Swiss-Prot Entry Name CIA30_HUMAN
PDB IDs Not Available
GenBank Gene ID AF151823
GeneCard ID NDUFAF1
GenAtlas ID NDUFAF1
HGNC ID HGNC:18828
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. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res. 2000 May;10(5):703-13. [PubMed:10810093 ]
  3. Janssen R, Smeitink J, Smeets R, van Den Heuvel L: CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum Genet. 2002 Mar;110(3):264-70. Epub 2002 Feb 1. [PubMed:11935339 ]