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O14949

- QCR8_HUMAN

UniProt

O14949 - QCR8_HUMAN

Protein

Cytochrome b-c1 complex subunit 8

Gene

UQCRQ

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

    This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone.

    GO - Molecular functioni

    1. ubiquinol-cytochrome-c reductase activity Source: InterPro

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. cerebellar Purkinje cell layer development Source: Ensembl
    3. hippocampus development Source: Ensembl
    4. hypothalamus development Source: Ensembl
    5. midbrain development Source: Ensembl
    6. pons development Source: Ensembl
    7. pyramidal neuron development Source: Ensembl
    8. respiratory electron transport chain Source: Reactome
    9. small molecule metabolic process Source: Reactome
    10. subthalamus development Source: Ensembl
    11. thalamus development Source: Ensembl

    Keywords - Biological processi

    Electron transport, Respiratory chain, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome b-c1 complex subunit 8
    Alternative name(s):
    Complex III subunit 8
    Complex III subunit VIII
    Ubiquinol-cytochrome c reductase complex 9.5 kDa protein
    Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C
    Gene namesi
    Name:UQCRQ
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:29594. UQCRQ.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrion Source: HPA
    3. respiratory chain Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451S → F in MC3DN4. 1 Publication
    Corresponds to variant rs11544803 [ dbSNP | Ensembl ].
    VAR_045911

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615159. phenotype.
    Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
    PharmGKBiPA142670637.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 8281Cytochrome b-c1 complex subunit 8PRO_0000193544Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei33 – 331N6-acetyllysine; alternateBy similarity
    Modified residuei33 – 331N6-succinyllysine; alternateBy similarity
    Cross-linki33 – 33Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternateBy similarity

    Keywords - PTMi

    Acetylation, Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiO14949.
    PaxDbiO14949.
    PRIDEiO14949.

    PTM databases

    PhosphoSiteiO14949.

    Expressioni

    Gene expression databases

    BgeeiO14949.
    CleanExiHS_UQCRQ.
    GenevestigatoriO14949.

    Organism-specific databases

    HPAiHPA046693.
    HPA053323.

    Interactioni

    Subunit structurei

    The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

    Protein-protein interaction databases

    BioGridi117991. 14 interactions.
    IntActiO14949. 4 interactions.
    MINTiMINT-1417930.
    STRINGi9606.ENSP00000367934.

    Structurei

    3D structure databases

    ProteinModelPortaliO14949.
    SMRiO14949. Positions 2-80.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UQCRQ/QCR8 family.Curated

    Phylogenomic databases

    eggNOGiNOG253869.
    HOGENOMiHOG000205681.
    HOVERGENiHBG001468.
    InParanoidiO14949.
    KOiK00418.
    OMAiNVWRRFS.
    OrthoDBiEOG7K3TPV.
    PhylomeDBiO14949.
    TreeFamiTF300281.

    Family and domain databases

    Gene3Di1.20.5.210. 1 hit.
    InterProiIPR004205. Cyt_bc1_su8.
    [Graphical view]
    PANTHERiPTHR12119. PTHR12119. 1 hit.
    PfamiPF02939. UcrQ. 1 hit.
    [Graphical view]
    ProDomiPD331499. UcrQ. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    SUPFAMiSSF81508. SSF81508. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    O14949-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV   50
    PQFVVFYLIY TWGTEEFERS KRKNPAAYEN DK 82
    Length:82
    Mass (Da):9,906
    Last modified:January 23, 2007 - v4
    Checksum:i5ED13ABDD2990DD2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti73 – 8210KNPAAYENDK → RIQLPMKMTNEQRIRMTVPC L in BAA23321. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451S → F in MC3DN4. 1 Publication
    Corresponds to variant rs11544803 [ dbSNP | Ensembl ].
    VAR_045911

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D50369 mRNA. Translation: BAA23321.1.
    BC001390 mRNA. Translation: AAH01390.1.
    BC090048 mRNA. Translation: AAH90048.1.
    CCDSiCCDS34237.1.
    RefSeqiNP_055217.2. NM_014402.4.
    UniGeneiHs.146602.

    Genome annotation databases

    EnsembliENST00000378665; ENSP00000367934; ENSG00000164405.
    ENST00000378667; ENSP00000367936; ENSG00000164405.
    ENST00000378670; ENSP00000367939; ENSG00000164405.
    GeneIDi27089.
    KEGGihsa:27089.
    UCSCiuc003kya.1. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D50369 mRNA. Translation: BAA23321.1 .
    BC001390 mRNA. Translation: AAH01390.1 .
    BC090048 mRNA. Translation: AAH90048.1 .
    CCDSi CCDS34237.1.
    RefSeqi NP_055217.2. NM_014402.4.
    UniGenei Hs.146602.

    3D structure databases

    ProteinModelPortali O14949.
    SMRi O14949. Positions 2-80.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117991. 14 interactions.
    IntActi O14949. 4 interactions.
    MINTi MINT-1417930.
    STRINGi 9606.ENSP00000367934.

    PTM databases

    PhosphoSitei O14949.

    Proteomic databases

    MaxQBi O14949.
    PaxDbi O14949.
    PRIDEi O14949.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378665 ; ENSP00000367934 ; ENSG00000164405 .
    ENST00000378667 ; ENSP00000367936 ; ENSG00000164405 .
    ENST00000378670 ; ENSP00000367939 ; ENSG00000164405 .
    GeneIDi 27089.
    KEGGi hsa:27089.
    UCSCi uc003kya.1. human.

    Organism-specific databases

    CTDi 27089.
    GeneCardsi GC05P132231.
    HGNCi HGNC:29594. UQCRQ.
    HPAi HPA046693.
    HPA053323.
    MIMi 612080. gene.
    615159. phenotype.
    neXtProti NX_O14949.
    Orphaneti 1460. Isolated CoQ-cytochrome C reductase deficiency.
    PharmGKBi PA142670637.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253869.
    HOGENOMi HOG000205681.
    HOVERGENi HBG001468.
    InParanoidi O14949.
    KOi K00418.
    OMAi NVWRRFS.
    OrthoDBi EOG7K3TPV.
    PhylomeDBi O14949.
    TreeFami TF300281.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    ChiTaRSi UQCRQ. human.
    GenomeRNAii 27089.
    NextBioi 49705.
    PROi O14949.
    SOURCEi Search...

    Gene expression databases

    Bgeei O14949.
    CleanExi HS_UQCRQ.
    Genevestigatori O14949.

    Family and domain databases

    Gene3Di 1.20.5.210. 1 hit.
    InterProi IPR004205. Cyt_bc1_su8.
    [Graphical view ]
    PANTHERi PTHR12119. PTHR12119. 1 hit.
    Pfami PF02939. UcrQ. 1 hit.
    [Graphical view ]
    ProDomi PD331499. UcrQ. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    SUPFAMi SSF81508. SSF81508. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a human homologue of bovine low molecular mass ubiquinone-binding protein gene."
      Fujiwara T., Kawai A., Shimizu F., Shinomiya K., Hirano H., Okuno S., Ozaki K., Katagiri T., Takeda S., Kuga Y., Shimada Y., Nagata M., Takaichi A., Watanabe T., Horie M., Nakamura Y., Takahashi E., Hirai Y.
      Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. "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: Pituitary and Skin.
    3. "Ubiquinol-cytochrome-c reductase from human and bovine mitochondria."
      Schaegger H., Brandt U., Gencic S., von Jagow G.
      Methods Enzymol. 260:82-96(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 2-16.
      Tissue: Heart and Liver.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. "Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ."
      Barel O., Shorer Z., Flusser H., Ofir R., Narkis G., Finer G., Shalev H., Nasasra A., Saada A., Birk O.S.
      Am. J. Hum. Genet. 82:1211-1216(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MC3DN4 PHE-45.

    Entry informationi

    Entry nameiQCR8_HUMAN
    AccessioniPrimary (citable) accession number: O14949
    Secondary accession number(s): Q5FVE2, Q9BV88, Q9T2V7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 128 of the entry and version 4 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 5
      Human chromosome 5: 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