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
  • aerobic respiration
  • oxidation-reduction process
  • hydrogen ion transmembrane transport
  • mitochondrial electron transport, cytochrome c to oxygen
  • generation of precursor metabolites and energy
  • cellular respiration
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
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  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