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Q96KJ9 (COX42_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length171 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the cytochrome c oxidase IV family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 171Cytochrome c oxidase subunit 4 isoform 2, mitochondrialPRO_0000006089

Amino acid modifications

Disulfide bond40 ↔ 54 Potential

Natural variations

Natural variant1381E → 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
Corresponds to variant rs119455950 [ dbSNP | Ensembl ].
VAR_058101
Natural variant1611R → H. Ref.1
Corresponds to variant rs11907253 [ dbSNP | Ensembl ].
VAR_033815

Sequences

Sequence LengthMass (Da)Tools
Q96KJ9 [UniParc].

Last modified August 16, 2005. Version 2.
Checksum: CD9BC8EC6EA3F4A3

FASTA17120,010
        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 

« Hide

References

« Hide '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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.
CCDSCCDS13187.1.
RefSeqNP_115998.2. NM_032609.2.
UniGeneHs.277101.

3D structure databases

ProteinModelPortalQ96KJ9.
SMRQ96KJ9. Positions 43-171.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124215. 2 interactions.
STRING9606.ENSP00000365243.

Protein family/group databases

TCDB3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

Polymorphism databases

DMDM73620953.

Proteomic databases

PaxDbQ96KJ9.
PRIDEQ96KJ9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376075; ENSP00000365243; ENSG00000131055.
GeneID84701.
KEGGhsa:84701.
UCSCuc002wwj.1. human.

Organism-specific databases

CTD84701.
GeneCardsGC20P030225.
HGNCHGNC:16232. COX4I2.
HPAHPA029307.
MIM607976. gene.
612714. phenotype.
neXtProtNX_Q96KJ9.
Orphanet199337. Pancreatic insufficiency - anemia - hyperostosis.
PharmGKBPA26783.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG328739.
HOGENOMHOG000231486.
HOVERGENHBG051087.
InParanoidQ96KJ9.
KOK02263.
OMALVIWWQR.
OrthoDBEOG7BKCWF.
PhylomeDBQ96KJ9.
TreeFamTF105061.

Gene expression databases

ArrayExpressQ96KJ9.
BgeeQ96KJ9.
CleanExHS_COX4I2.
GenevestigatorQ96KJ9.

Family and domain databases

Gene3D1.10.442.10. 1 hit.
InterProIPR013288. Cyt_c_oxidase_su4.
IPR004203. Cyt_c_oxidase_su4_fam.
[Graphical view]
PfamPF02936. COX4. 1 hit.
[Graphical view]
PRINTSPR01873. CYTCOXIDASE4.
SUPFAMSSF81406. SSF81406. 1 hit.
ProtoNetSearch...

Other

GeneWikiCOX4I2.
GenomeRNAi84701.
NextBio74788.
PROQ96KJ9.
SOURCESearch...

Entry information

Entry nameCOX42_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM