Q96KJ9 (COX42_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cytochrome c oxidase subunit 4 isoform 2, mitochondrial

Alternative name(s):
Cytochrome c oxidase subunit IV isoform 2
Short name=COX IV-2

Gene names

Name:	COX4I2
Synonyms:	COX4L2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	171 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
Subcellular location	Mitochondrion inner membrane.
Tissue specificity	Highly expressed in lung.
Involvement in disease	Defects in COX4I2 are the cause of exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]. Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. Ref.4
Sequence similarities	Belongs to the cytochrome c oxidase IV family.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transit peptide
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cellular respiration Non-traceable author statement. Source: UniProtKB
Cellular component	mitochondrial respiratory chain complex IV Inferred by curator Ref.1. Source: UniProtKB
Molecular function	cytochrome-c oxidase activity Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – ?		Mitochondrion Potential
	Chain	? – 171		Cytochrome c oxidase subunit 4 isoform 2, mitochondrial		PRO_0000006089
Amino acid modifications
	Disulfide bond	40 ↔ 54		Potential
Natural variations
	Natural variant	138	1	E → K in EPIDACH; expression in patient fibroblasts is reduced to 25% of control values in normoxic conditions; the mutant protein shows an impaired response to hypoxia. Ref.4		VAR_058101
	Natural variant	161	1	R → H. Ref.1 Corresponds to variant rs11907253 [ dbSNP | Ensembl ].		VAR_033815

Sequences

	Sequence		Length	Mass (Da)
	Q96KJ9 [UniParc]. Last modified August 16, 2005. Version 2. Checksum: CD9BC8EC6EA3F4A3	FASTA	171	20,010
	10 20 30 40 50 60 MLPRAAWSLV LRKGGGGRRG MHSSEGTTRG GGKMSPYTNC YAQRYYPMPE EPFCTELNAE 70 80 90 100 110 120 EQALKEKEKG SWTQLTHAEK VALYRLQFNE TFAEMNRRSN EWKTVMGCVF FFIGFAALVI 130 140 150 160 170 WWQRVYVFPP KPITLTDERK AQQLQRMLDM KVNPVQGLAS RWDYEKKQWK K

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mammalian subunit IV isoforms of cytochrome c oxidase." Huettemann M., Kadenbach B., Grossman L.I. Gene 267:111-123(2001) [PubMed: 11311561] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-161.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[4]	"Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene." Shteyer E., Saada A., Shaag A., Al-Hijawi F.A., Kidess R., Revel-Vilk S., Elpeleg O. Am. J. Hum. Genet. 84:412-417(2009) [PubMed: 19268275] [Abstract] Cited for: VARIANT EPIDACH LYS-138, CHARACTERIZATION OF VARIANT EPIDACH LYS-138.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF257180 mRNA. Translation: AAK49333.1. AL117381 Genomic DNA. Translation: CAI23028.1. BC057779 mRNA. Translation: AAH57779.1.
IPI	IPI00064655.
RefSeq	NP_115998.2. NM_032609.2.
UniGene	Hs.277101.
3D structure databases
ProteinModelPortal	Q96KJ9.
SMR	Q96KJ9. Positions 26-171.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96KJ9.
Protein family/group databases
TCDB	3.D.4.11.1. proton-translocating cytochrome oxidase (COX) superfamily.
Polymorphism databases
DMDM	73620953.
Proteomic databases
PRIDE	Q96KJ9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376075; ENSP00000365243; ENSG00000131055.
GeneID	84701.
KEGG	hsa:84701.
UCSC	uc002wwj.1. human.
Organism-specific databases
CTD	84701.
GeneCards	GC20P030225.
H-InvDB	HIX0203072.
HGNC	HGNC:16232. COX4I2.
HPA	HPA029307.
MIM	607976. gene. 612714. phenotype.
neXtProt	NX_Q96KJ9.
Orphanet	199337. Pancreatic insufficiency - anemia - hyperostosis.
PharmGKB	PA26783.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16257.
GeneTree	ENSGT00390000002407.
HOGENOM	HBG717867.
HOVERGEN	HBG051087.
InParanoid	Q96KJ9.
OMA	MPEEPFC.
OrthoDB	EOG4NZTVD.
PhylomeDB	Q96KJ9.
Gene expression databases
ArrayExpress	Q96KJ9.
Bgee	Q96KJ9.
CleanEx	HS_COX4I2.
Genevestigator	Q96KJ9.
GermOnline	ENSG00000131055. Homo sapiens.
Family and domain databases
InterPro	IPR004203. Cyt_c_oxidase_su4. IPR013288. Cyt_c_oxidase_su4_subgr. [Graphical view]
Gene3D	G3DSA:1.10.442.10. COX4. 1 hit.
KO	K02263.
Pfam	PF02936. COX4. 1 hit. [Graphical view]
PRINTS	PR01873. CYTCOXIDASE4.
SUPFAM	SSF81406. COX4. 1 hit.
ProtoNet	Search...
Other
NextBio	74788.
SOURCE	Search...

Entry information

Entry name

COX42_HUMAN

Accession

Primary (citable) accession number: Q96KJ9
Secondary accession number(s): Q6GTF4, Q9H0Z4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2002
Last sequence update:	August 16, 2005
Last modified:	January 25, 2012
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.