Cytochrome c oxidase subunit 4 isoform 2, mitochondrial

NameCytochrome c oxidase subunit 4 isoform 2, mitochondrial
Synonyms
  • COX IV-2
  • COX4L2
  • Cytochrome c oxidase subunit IV isoform 2
Gene NameCOX4I2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0013392|Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
MLPRAAWSLVLRKGGGGRRGMHSSEGTTRGGGKMSPYTNCYAQRYYPMPEEPFCTELNAE
EQALKEKEKGSWTQLTHAEKVALYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVI
WWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGLASRWDYEKKQWKK
Number of residues171
Molecular Weight20010.02
Theoretical pINot Available
GO Classification
Functions
  • cytochrome-c oxidase activity
Processes
  • generation of precursor metabolites and energy
  • cellular respiration
  • aerobic respiration
  • oxidation-reduction process
  • hydrogen ion transmembrane transport
  • mitochondrial electron transport, cytochrome c to oxygen
Components
  • mitochondrial respiratory chain complex IV
General FunctionCytochrome-c oxidase activity
Specific FunctionThis protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDQ96KJ9
UniProtKB Entry NameCOX42_HUMAN
Cellular LocationMitochondrion inner membrane
Gene sequence
>lcl|BSEQ0013393|Cytochrome c oxidase subunit 4 isoform 2, mitochondrial (COX4I2)
ATGCTCCCCAGAGCTGCCTGGAGCTTGGTGCTGAGGAAAGGTGGAGGTGGAAGACGAGGG
ATGCACAGCTCAGAAGGCACCACCCGTGGTGGGGGGAAGATGTCCCCCTACACCAACTGC
TATGCCCAGCGCTACTACCCCATGCCAGAAGAGCCCTTCTGCACAGAACTCAACGCTGAG
GAGCAGGCCCTGAAGGAGAAGGAGAAGGGAAGCTGGACCCAGCTGACCCACGCCGAAAAG
GTGGCCTTGTACCGGCTCCAGTTCAATGAGACCTTTGCGGAGATGAACCGTCGCTCCAAT
GAGTGGAAGACAGTGATGGGTTGTGTCTTCTTCTTCATTGGATTCGCAGCTCTGGTGATT
TGGTGGCAGCGGGTCTACGTATTTCCTCCAAAGCCGATCACCTTGACGGACGAGCGGAAA
GCCCAGCAGCTGCAGCGCATGCTGGACATGAAGGTGAATCCTGTGCAGGGCCTGGCCTCC
CGCTGGGACTATGAGAAGAAGCAGTGGAAGAAGTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:16232
Chromosome Location20
LocusNot Available
References
  1. Huttemann M, Kadenbach B, Grossman LI: Mammalian subunit IV isoforms of cytochrome c oxidase. Gene. 2001 Apr 4;267(1):111-23. 11311561
  2. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. 11780052
  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. 15489334
  4. Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O: Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5. 19268275