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P24311

- COX7B_HUMAN

UniProt

P24311 - COX7B_HUMAN

Protein

Cytochrome c oxidase subunit 7B, mitochondrial

Gene

COX7B

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

    This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates.1 Publication

    GO - Molecular functioni

    1. cytochrome-c oxidase activity Source: ProtInc

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. central nervous system development Source: UniProtKB
    3. hydrogen ion transmembrane transport Source: GOC
    4. respiratory electron transport chain Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome c oxidase subunit 7B, mitochondrial
    Alternative name(s):
    Cytochrome c oxidase polypeptide VIIb
    Gene namesi
    Name:COX7B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:2291. COX7B.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: Reactome
    3. mitochondrial respiratory chain Source: InterPro

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies (APLCC) [MIM:300887]: A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi300887. phenotype.
    Orphaneti2556. Microphthalmia with linear skin defects syndrome.
    PharmGKBiPA26809.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2424Mitochondrion1 PublicationAdd
    BLAST
    Chaini25 – 8056Cytochrome c oxidase subunit 7B, mitochondrialPRO_0000006158Add
    BLAST

    Proteomic databases

    MaxQBiP24311.
    PaxDbiP24311.
    PRIDEiP24311.

    PTM databases

    PhosphoSiteiP24311.

    Expressioni

    Gene expression databases

    BgeeiP24311.
    CleanExiHS_COX7B.
    GenevestigatoriP24311.

    Organism-specific databases

    HPAiHPA058041.

    Interactioni

    Protein-protein interaction databases

    BioGridi107742. 1 interaction.
    IntActiP24311. 2 interactions.
    STRINGi9606.ENSP00000417656.

    Structurei

    3D structure databases

    ProteinModelPortaliP24311.
    SMRiP24311. Positions 31-78.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 328Mitochondrial matrixBy similarity
    Topological domaini60 – 8021Mitochondrial intermembraneBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei33 – 5927HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome c oxidase VIIb family.Curated

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG46061.
    HOGENOMiHOG000059529.
    HOVERGENiHBG051092.
    InParanoidiP24311.
    KOiK02271.
    OMAiAVWAYTA.
    OrthoDBiEOG7T7GWR.
    PhylomeDBiP24311.
    TreeFamiTF105068.

    Family and domain databases

    Gene3Di4.10.51.10. 1 hit.
    InterProiIPR008433. Cyt_c_oxidase_suVIIB.
    IPR023272. Cyt_c_oxidase_suVIIB_dom.
    [Graphical view]
    PANTHERiPTHR16716. PTHR16716. 1 hit.
    PfamiPF05392. COX7B. 1 hit.
    [Graphical view]
    SUPFAMiSSF81423. SSF81423. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    P24311-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFPLVKSALN RLQVRSIQQT MARQSHQKRT PDFHDKYGNA VLASGATFCI   50
    VTWTYVATQV GIEWNLSPVG RVTPKEWRNQ 80
    Length:80
    Mass (Da):9,161
    Last modified:February 1, 1994 - v2
    Checksum:i1EE75BD1AA253E59
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti29 – 291R → P AA sequence (PubMed:1309697)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z14244 mRNA. Translation: CAA78613.1.
    BT009767 mRNA. Translation: AAP88769.1.
    CR450332 mRNA. Translation: CAG29328.1.
    CR542124 mRNA. Translation: CAG46921.1.
    AK311879 mRNA. Translation: BAG34820.1.
    AL356235 Genomic DNA. Translation: CAH70525.1.
    CH471104 Genomic DNA. Translation: EAW98607.1.
    BC018386 mRNA. Translation: AAH18386.1.
    CCDSiCCDS14437.1.
    PIRiS29856. OSHU7B.
    RefSeqiNP_001857.1. NM_001866.2.
    UniGeneiHs.522699.

    Genome annotation databases

    EnsembliENST00000481445; ENSP00000417656; ENSG00000131174.
    GeneIDi1349.
    KEGGihsa:1349.
    UCSCiuc004ecu.1. human.

    Polymorphism databases

    DMDMi461804.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z14244 mRNA. Translation: CAA78613.1 .
    BT009767 mRNA. Translation: AAP88769.1 .
    CR450332 mRNA. Translation: CAG29328.1 .
    CR542124 mRNA. Translation: CAG46921.1 .
    AK311879 mRNA. Translation: BAG34820.1 .
    AL356235 Genomic DNA. Translation: CAH70525.1 .
    CH471104 Genomic DNA. Translation: EAW98607.1 .
    BC018386 mRNA. Translation: AAH18386.1 .
    CCDSi CCDS14437.1.
    PIRi S29856. OSHU7B.
    RefSeqi NP_001857.1. NM_001866.2.
    UniGenei Hs.522699.

    3D structure databases

    ProteinModelPortali P24311.
    SMRi P24311. Positions 31-78.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107742. 1 interaction.
    IntActi P24311. 2 interactions.
    STRINGi 9606.ENSP00000417656.

    PTM databases

    PhosphoSitei P24311.

    Polymorphism databases

    DMDMi 461804.

    Proteomic databases

    MaxQBi P24311.
    PaxDbi P24311.
    PRIDEi P24311.

    Protocols and materials databases

    DNASUi 1349.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000481445 ; ENSP00000417656 ; ENSG00000131174 .
    GeneIDi 1349.
    KEGGi hsa:1349.
    UCSCi uc004ecu.1. human.

    Organism-specific databases

    CTDi 1349.
    GeneCardsi GC0XP077154.
    HGNCi HGNC:2291. COX7B.
    HPAi HPA058041.
    MIMi 300885. gene.
    300887. phenotype.
    neXtProti NX_P24311.
    Orphaneti 2556. Microphthalmia with linear skin defects syndrome.
    PharmGKBi PA26809.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46061.
    HOGENOMi HOG000059529.
    HOVERGENi HBG051092.
    InParanoidi P24311.
    KOi K02271.
    OMAi AVWAYTA.
    OrthoDBi EOG7T7GWR.
    PhylomeDBi P24311.
    TreeFami TF105068.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii COX7B.
    GenomeRNAii 1349.
    NextBioi 5467.
    PROi P24311.
    SOURCEi Search...

    Gene expression databases

    Bgeei P24311.
    CleanExi HS_COX7B.
    Genevestigatori P24311.

    Family and domain databases

    Gene3Di 4.10.51.10. 1 hit.
    InterProi IPR008433. Cyt_c_oxidase_suVIIB.
    IPR023272. Cyt_c_oxidase_suVIIB_dom.
    [Graphical view ]
    PANTHERi PTHR16716. PTHR16716. 1 hit.
    Pfami PF05392. COX7B. 1 hit.
    [Graphical view ]
    SUPFAMi SSF81423. SSF81423. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase."
      Sadlock J.E., Lightowlers R.N., Capaldi R.A., Schon E.A.
      Biochim. Biophys. Acta 1172:223-225(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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 (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "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 (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "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].
    5. "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].
    6. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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: Ovary.
    9. "Subunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heart."
      van Kuilenburg A.B.P., van Beeumen J.J., van der Meer N.M., Muijsers A.O.
      Eur. J. Biochem. 203:193-199(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 25-43.
      Tissue: Heart.
    10. "Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease."
      Indrieri A., van Rahden V.A., Tiranti V., Morleo M., Iaconis D., Tammaro R., D'Amato I., Conte I., Maystadt I., Demuth S., Zvulunov A., Kutsche K., Zeviani M., Franco B.
      Am. J. Hum. Genet. 91:942-949(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INVOLVEMENT IN APLCC.

    Entry informationi

    Entry nameiCOX7B_HUMAN
    AccessioniPrimary (citable) accession number: P24311
    Secondary accession number(s): B2R4M3, Q6ICR1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 1992
    Last sequence update: February 1, 1994
    Last modified: October 1, 2014
    This is version 130 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3