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Q96KJ9

- COX42_HUMAN

UniProt

Q96KJ9 - COX42_HUMAN

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
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (16 Aug 2005)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ96KJ9.
    BgeeiQ96KJ9.
    CleanExiHS_COX4I2.
    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.
    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

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    MLPRAAWSLV LRKGGGGRRG MHSSEGTTRG GGKMSPYTNC YAQRYYPMPE    50
    EPFCTELNAE EQALKEKEKG SWTQLTHAEK VALYRLQFNE TFAEMNRRSN 100
    EWKTVMGCVF FFIGFAALVI WWQRVYVFPP KPITLTDERK AQQLQRMLDM 150
    KVNPVQGLAS RWDYEKKQWK K 171
    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.
    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

    ArrayExpressi Q96KJ9.
    Bgeei Q96KJ9.
    CleanExi HS_COX4I2.
    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

    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 1, 2014
    This is version 110 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