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Identification
HMDB Protein ID HMDBP08888
Secondary Accession Numbers
  • 14616
Name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Synonyms
  1. Hormone-regulated proliferation-associated protein of 20 kDa
Gene Name NDUFAF4
Protein Type Enzyme
Biological Properties
General Function Involved in calmodulin binding
Specific Function Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Mitochondrion
Gene Properties
Chromosome Location Chromosome:6
Locus 6q16.1
SNPs NDUFAF4
Gene Sequence
>528 bp
ATGGGAGCACTAGTGATTCGCGGTATCAGGAATTTCAACCTAGAGAACCGAGCGGAACGG
GAAATCAGCAAGATGAAGCCCTCTGTCGCTCCCAGACACCCCTCTACCAACAGCCTCCTG
CGAGAGCAGATTAGTCTCTATCCAGAAGTTAAAGGAGAGATTGCTCGTAAAGATGAAAAG
CTGCTGTCGTTTCTAAAAGATGTGTATGTTGATTCCAAAGATCCTGTGTCTTCCTTGCAG
GTAAAAGCTGCTGAAACATGTCAAGAGCCGAAGGAATTCAGATTGCCGAAAGACCATCAT
TTTGATATGATAAATATTAAGAGCATTCCCAAAGGCAAAATTTCCATTGTAGAAGCATTG
ACACTTCTCAATAATCATAAGCTTTTCCCAGAAACCTGGACTGCTGAGAAAATAATGCAA
GAATACCAGTTAGAACAGAAAGATGTGAATTCTCTTCTTAAATATTTTGTTACTTTTGAA
GTCGAAATCTTCCCTCCTGAAGACAAGAAAGCAATACGATCAAAATGA
Protein Properties
Number of Residues 175
Molecular Weight 20266.3
Theoretical pI 9.35
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEK
LLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEAL
TLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK
GenBank ID Protein 12001966
UniProtKB/Swiss-Prot ID Q9P032
UniProtKB/Swiss-Prot Entry Name NDUF4_HUMAN
PDB IDs Not Available
GenBank Gene ID AF060508
GeneCard ID NDUFAF4
GenAtlas ID NDUFAF4
HGNC ID HGNC:21034
References
General References
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  3. 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 ]
  4. Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Genome Res. 2000 Oct;10(10):1546-60. [PubMed:11042152 ]
  5. Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. [PubMed:19463981 ]
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  7. Karp CM, Shukla MN, Buckley DJ, Buckley AR: HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion. Oncogene. 2007 Mar 15;26(12):1780-8. Epub 2006 Sep 25. [PubMed:17001319 ]
  8. Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O: C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet. 2008 Jan;82(1):32-8. doi: 10.1016/j.ajhg.2007.08.003. [PubMed:18179882 ]