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Q96KJ9

- COX42_HUMAN

UniProt

Q96KJ9 - COX42_HUMAN

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Protein

Cytochrome c oxidase subunit 4 isoform 2, mitochondrial

Gene

COX4I2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

GO - Molecular functioni

  1. cytochrome-c oxidase activity Source: UniProtKB

GO - Biological processi

  1. cellular respiration Source: UniProtKB
  2. generation of precursor metabolites and energy Source: UniProtKB
  3. hydrogen ion transmembrane transport Source: GOC
  4. oxidation-reduction process Source: UniProtKB
Complete GO annotation...

Protein family/group databases

TCDBi3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

Names & Taxonomyi

Protein namesi
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 namesi
Name:COX4I2
Synonyms:COX4L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16232. COX4I2.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial respiratory chain complex IV Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti138 – 1381E → 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. 1 Publication
Corresponds to variant rs119455950 [ dbSNP | Ensembl ].
VAR_058101

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612714. phenotype.
Orphaneti199337. Pancreatic insufficiency - anemia - hyperostosis.
PharmGKBiPA26783.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 171Cytochrome c oxidase subunit 4 isoform 2, mitochondrialPRO_0000006089
Transit peptidei1 – ?MitochondrionSequence Analysis

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi40 ↔ 54Sequence Analysis

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ96KJ9.
PRIDEiQ96KJ9.

Expressioni

Tissue specificityi

Highly expressed in lung.

Gene expression databases

BgeeiQ96KJ9.
CleanExiHS_COX4I2.
ExpressionAtlasiQ96KJ9. baseline and differential.
GenevestigatoriQ96KJ9.

Organism-specific databases

HPAiHPA029307.

Interactioni

Protein-protein interaction databases

BioGridi124215. 2 interactions.
STRINGi9606.ENSP00000365243.

Structurei

3D structure databases

ProteinModelPortaliQ96KJ9.
SMRiQ96KJ9. Positions 43-171.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome c oxidase IV family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG328739.
GeneTreeiENSGT00390000002407.
HOGENOMiHOG000231486.
HOVERGENiHBG051087.
InParanoidiQ96KJ9.
KOiK02263.
OMAiLVIWWQR.
OrthoDBiEOG7BKCWF.
PhylomeDBiQ96KJ9.
TreeFamiTF105061.

Family and domain databases

Gene3Di1.10.442.10. 1 hit.
InterProiIPR013288. Cyt_c_oxidase_su4.
IPR004203. Cyt_c_oxidase_su4_fam.
[Graphical view]
PfamiPF02936. COX4. 1 hit.
[Graphical view]
PRINTSiPR01873. CYTCOXIDASE4.
SUPFAMiSSF81406. SSF81406. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96KJ9-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLPRAAWSLV LRKGGGGRRG MHSSEGTTRG GGKMSPYTNC YAQRYYPMPE
60 70 80 90 100
EPFCTELNAE EQALKEKEKG SWTQLTHAEK VALYRLQFNE TFAEMNRRSN
110 120 130 140 150
EWKTVMGCVF FFIGFAALVI WWQRVYVFPP KPITLTDERK AQQLQRMLDM
160 170
KVNPVQGLAS RWDYEKKQWK K
Length:171
Mass (Da):20,010
Last modified:August 16, 2005 - v2
Checksum:iCD9BC8EC6EA3F4A3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti138 – 1381E → 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. 1 Publication
Corresponds to variant rs119455950 [ dbSNP | Ensembl ].
VAR_058101
Natural varianti161 – 1611R → H.1 Publication
Corresponds to variant rs11907253 [ dbSNP | Ensembl ].
VAR_033815

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF257180 mRNA. Translation: AAK49333.1.
AL117381 Genomic DNA. Translation: CAI23028.1.
BC057779 mRNA. Translation: AAH57779.1.
CCDSiCCDS13187.1.
RefSeqiNP_115998.2. NM_032609.2.
UniGeneiHs.277101.

Genome annotation databases

EnsembliENST00000376075; ENSP00000365243; ENSG00000131055.
GeneIDi84701.
KEGGihsa:84701.
UCSCiuc002wwj.1. human.

Polymorphism databases

DMDMi73620953.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF257180 mRNA. Translation: AAK49333.1 .
AL117381 Genomic DNA. Translation: CAI23028.1 .
BC057779 mRNA. Translation: AAH57779.1 .
CCDSi CCDS13187.1.
RefSeqi NP_115998.2. NM_032609.2.
UniGenei Hs.277101.

3D structure databases

ProteinModelPortali Q96KJ9.
SMRi Q96KJ9. Positions 43-171.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124215. 2 interactions.
STRINGi 9606.ENSP00000365243.

Protein family/group databases

TCDBi 3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

Polymorphism databases

DMDMi 73620953.

Proteomic databases

PaxDbi Q96KJ9.
PRIDEi Q96KJ9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000376075 ; ENSP00000365243 ; ENSG00000131055 .
GeneIDi 84701.
KEGGi hsa:84701.
UCSCi uc002wwj.1. human.

Organism-specific databases

CTDi 84701.
GeneCardsi GC20P030225.
HGNCi HGNC:16232. COX4I2.
HPAi HPA029307.
MIMi 607976. gene.
612714. phenotype.
neXtProti NX_Q96KJ9.
Orphaneti 199337. Pancreatic insufficiency - anemia - hyperostosis.
PharmGKBi PA26783.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG328739.
GeneTreei ENSGT00390000002407.
HOGENOMi HOG000231486.
HOVERGENi HBG051087.
InParanoidi Q96KJ9.
KOi K02263.
OMAi LVIWWQR.
OrthoDBi EOG7BKCWF.
PhylomeDBi Q96KJ9.
TreeFami TF105061.

Miscellaneous databases

GeneWikii COX4I2.
GenomeRNAii 84701.
NextBioi 74788.
PROi Q96KJ9.
SOURCEi Search...

Gene expression databases

Bgeei Q96KJ9.
CleanExi HS_COX4I2.
ExpressionAtlasi Q96KJ9. baseline and differential.
Genevestigatori Q96KJ9.

Family and domain databases

Gene3Di 1.10.442.10. 1 hit.
InterProi IPR013288. Cyt_c_oxidase_su4.
IPR004203. Cyt_c_oxidase_su4_fam.
[Graphical view ]
Pfami PF02936. COX4. 1 hit.
[Graphical view ]
PRINTSi PR01873. CYTCOXIDASE4.
SUPFAMi SSF81406. SSF81406. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiCOX42_HUMAN
AccessioniPrimary (citable) accession number: Q96KJ9
Secondary accession number(s): Q6GTF4, Q9H0Z4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2002
Last sequence update: August 16, 2005
Last modified: October 29, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3