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Protein

Cytochrome b-c1 complex subunit 8

Gene

UQCRQ

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

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

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:29594. UQCRQ.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 4 (MC3DN4)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:615159
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.

Polymorphism and mutation databases

BioMutaiUQCRQ.

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.
GenevisibleiO14949. HS.

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. 19 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.
GeneTreeiENSGT00390000004029.
HOGENOMiHOG000205681.
HOVERGENiHBG001468.
InParanoidiO14949.
KOiK00418.
OMAiADYENDE.
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

        10         20         30         40         50
MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV
60 70 80
PQFVVFYLIY TWGTEEFERS KRKNPAAYEN DK
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 (Ref. 1) Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi117991. 19 interactions.
IntActiO14949. 4 interactions.
MINTiMINT-1417930.
STRINGi9606.ENSP00000367934.

PTM databases

PhosphoSiteiO14949.

Polymorphism and mutation databases

BioMutaiUQCRQ.

Proteomic databases

MaxQBiO14949.
PaxDbiO14949.
PRIDEiO14949.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi27089.
GeneCardsiGC05P132204.
HGNCiHGNC:29594. UQCRQ.
HPAiHPA046693.
HPA053323.
MIMi612080. gene.
615159. phenotype.
neXtProtiNX_O14949.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA142670637.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG253869.
GeneTreeiENSGT00390000004029.
HOGENOMiHOG000205681.
HOVERGENiHBG001468.
InParanoidiO14949.
KOiK00418.
OMAiADYENDE.
OrthoDBiEOG7K3TPV.
PhylomeDBiO14949.
TreeFamiTF300281.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSiUQCRQ. human.
GenomeRNAii27089.
NextBioi49705.
PROiO14949.
SOURCEiSearch...

Gene expression databases

BgeeiO14949.
CleanExiHS_UQCRQ.
GenevisibleiO14949. HS.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: July 22, 2015
This is version 134 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.