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P14854

- CX6B1_HUMAN

UniProt

P14854 - CX6B1_HUMAN

Protein

Cytochrome c oxidase subunit 6B1

Gene

COX6B1

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

    Connects the two COX monomers into the physiological dimeric form.By similarity

    GO - Molecular functioni

    1. cytochrome-c oxidase activity Source: UniProtKB

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. hydrogen ion transmembrane transport Source: GOC
    3. respiratory electron transport chain Source: Reactome
    4. small molecule metabolic process Source: Reactome
    5. substantia nigra development Source: UniProt

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome c oxidase subunit 6B1
    Alternative name(s):
    Cytochrome c oxidase subunit VIb isoform 1
    Short name:
    COX VIb-1
    Gene namesi
    Name:COX6B1
    Synonyms:COX6B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:2280. COX6B1.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrial intermembrane space Source: UniProtKB-SubCell
    3. mitochondrion Source: HPA

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201R → H in MT-C4D. 1 Publication
    VAR_046775

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi220110. phenotype.
    Orphaneti254905. Isolated cytochrome C oxidase deficiency.
    70474. Leigh syndrome with cardiomyopathy.
    PharmGKBiPA26797.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 8685Cytochrome c oxidase subunit 6B1PRO_0000194912Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Disulfide bondi30 ↔ 65By similarity
    Disulfide bondi40 ↔ 54By similarity

    Keywords - PTMi

    Acetylation, Disulfide bond

    Proteomic databases

    MaxQBiP14854.
    PaxDbiP14854.
    PRIDEiP14854.

    PTM databases

    PhosphoSiteiP14854.

    Expressioni

    Gene expression databases

    ArrayExpressiP14854.
    BgeeiP14854.
    CleanExiHS_COX6B1.
    GenevestigatoriP14854.

    Organism-specific databases

    HPAiHPA004192.

    Interactioni

    Protein-protein interaction databases

    BioGridi107733. 6 interactions.
    IntActiP14854. 4 interactions.
    MINTiMINT-3008230.
    STRINGi9606.ENSP00000246554.

    Structurei

    3D structure databases

    ProteinModelPortaliP14854.
    SMRiP14854. Positions 8-86.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG279294.
    HOGENOMiHOG000165128.
    HOVERGENiHBG051090.
    InParanoidiP14854.
    KOiK02267.
    OMAiISRIREW.
    OrthoDBiEOG7WDN54.
    PhylomeDBiP14854.
    TreeFamiTF105065.

    Family and domain databases

    Gene3Di1.10.10.140. 1 hit.
    InterProiIPR003213. Cyt_c_oxidase_su6B.
    [Graphical view]
    PfamiPF02297. COX6B. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000278. Cyt_c_oxidase_6B. 1 hit.
    SUPFAMiSSF47694. SSF47694. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    P14854-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD   50
    ISVCEWYQRV YQSLCPTSWV TDWDEQRAEG TFPGKI 86
    Length:86
    Mass (Da):10,192
    Last modified:January 23, 2007 - v2
    Checksum:i15C8B056491FB248
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201R → H in MT-C4D. 1 Publication
    VAR_046775

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X13923 mRNA. Translation: CAA32114.1.
    X54473 mRNA. Translation: CAA38352.1.
    AK312140 mRNA. Translation: BAG35076.1.
    BT006945 mRNA. Translation: AAP35591.1.
    CR456789 mRNA. Translation: CAG33070.1.
    CR542137 mRNA. Translation: CAG46934.1.
    AC002115 Genomic DNA. Translation: AAB57628.1.
    BC001015 mRNA. Translation: AAH01015.1.
    BC002478 mRNA. Translation: AAH02478.1.
    X58139 Genomic DNA. Translation: CAA41147.1.
    CCDSiCCDS12469.1.
    PIRiS03287. OGHU6B.
    RefSeqiNP_001854.1. NM_001863.4.
    UniGeneiHs.431668.

    Genome annotation databases

    EnsembliENST00000246554; ENSP00000246554; ENSG00000126267.
    ENST00000392201; ENSP00000376037; ENSG00000126267.
    ENST00000592141; ENSP00000466818; ENSG00000126267.
    GeneIDi1340.
    KEGGihsa:1340.
    UCSCiuc002oav.3. human.

    Polymorphism databases

    DMDMi117115.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X13923 mRNA. Translation: CAA32114.1 .
    X54473 mRNA. Translation: CAA38352.1 .
    AK312140 mRNA. Translation: BAG35076.1 .
    BT006945 mRNA. Translation: AAP35591.1 .
    CR456789 mRNA. Translation: CAG33070.1 .
    CR542137 mRNA. Translation: CAG46934.1 .
    AC002115 Genomic DNA. Translation: AAB57628.1 .
    BC001015 mRNA. Translation: AAH01015.1 .
    BC002478 mRNA. Translation: AAH02478.1 .
    X58139 Genomic DNA. Translation: CAA41147.1 .
    CCDSi CCDS12469.1.
    PIRi S03287. OGHU6B.
    RefSeqi NP_001854.1. NM_001863.4.
    UniGenei Hs.431668.

    3D structure databases

    ProteinModelPortali P14854.
    SMRi P14854. Positions 8-86.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107733. 6 interactions.
    IntActi P14854. 4 interactions.
    MINTi MINT-3008230.
    STRINGi 9606.ENSP00000246554.

    PTM databases

    PhosphoSitei P14854.

    Polymorphism databases

    DMDMi 117115.

    Proteomic databases

    MaxQBi P14854.
    PaxDbi P14854.
    PRIDEi P14854.

    Protocols and materials databases

    DNASUi 1340.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000246554 ; ENSP00000246554 ; ENSG00000126267 .
    ENST00000392201 ; ENSP00000376037 ; ENSG00000126267 .
    ENST00000592141 ; ENSP00000466818 ; ENSG00000126267 .
    GeneIDi 1340.
    KEGGi hsa:1340.
    UCSCi uc002oav.3. human.

    Organism-specific databases

    CTDi 1340.
    GeneCardsi GC19P036140.
    HGNCi HGNC:2280. COX6B1.
    HPAi HPA004192.
    MIMi 124089. gene.
    220110. phenotype.
    neXtProti NX_P14854.
    Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
    70474. Leigh syndrome with cardiomyopathy.
    PharmGKBi PA26797.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG279294.
    HOGENOMi HOG000165128.
    HOVERGENi HBG051090.
    InParanoidi P14854.
    KOi K02267.
    OMAi ISRIREW.
    OrthoDBi EOG7WDN54.
    PhylomeDBi P14854.
    TreeFami TF105065.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    ChiTaRSi COX6B1. human.
    GeneWikii COX6B1.
    GenomeRNAii 1340.
    NextBioi 5443.
    PROi P14854.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14854.
    Bgeei P14854.
    CleanExi HS_COX6B1.
    Genevestigatori P14854.

    Family and domain databases

    Gene3Di 1.10.10.140. 1 hit.
    InterProi IPR003213. Cyt_c_oxidase_su6B.
    [Graphical view ]
    Pfami PF02297. COX6B. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000278. Cyt_c_oxidase_6B. 1 hit.
    SUPFAMi SSF47694. SSF47694. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase."
      Taanman J.-W., Schrage C., Ponne N.J., Bolhuis P.A., de Vries H., Agsteribbe E.
      Nucleic Acids Res. 17:1766-1766(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Skeletal muscle.
    2. "Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues."
      Taanman J.-W., Schrage C., Ponne N.J., Das A.T., Bolhuis P.A., de Vries H., Agsteribbe E.
      Gene 93:285-291(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family."
      Carrero-Valenzuela R.D., Quan F., Lightowlers R.N., Kennaway N.G., Litt M., Forte M.A.
      Gene 102:229-236(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Cerebellum.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    8. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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: Eye and Kidney.
    10. "Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions."
      Taanman J.-W., Schrage C., Bokma E., Reuvekamp P., Agsteribbe E., de Vries H.
      Biochim. Biophys. Acta 1089:283-285(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-86.
      Tissue: Lymphocyte.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    13. "Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase."
      Massa V., Fernandez-Vizarra E., Alshahwan S., Bakhsh E., Goffrini P., Ferrero I., Mereghetti P., D'Adamo P., Gasparini P., Zeviani M.
      Am. J. Hum. Genet. 82:1281-1289(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MT-C4D HIS-20.

    Entry informationi

    Entry nameiCX6B1_HUMAN
    AccessioniPrimary (citable) accession number: P14854
    Secondary accession number(s): B2R5C9, Q6IBL4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 139 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 19
      Human chromosome 19: 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