Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O14949 (QCR8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:UQCRQ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length82 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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).

Subcellular location

Mitochondrion inner membrane.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the UQCRQ/QCR8 family.

Ontologies

Keywords
   Biological processElectron transport
Respiratory chain
Transport
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   DiseaseDisease mutation
   PTMAcetylation
Isopeptide bond
Ubl conjugation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcellular metabolic process

Traceable author statement. Source: Reactome

cerebellar Purkinje cell layer development

Inferred from electronic annotation. Source: Ensembl

hippocampus development

Inferred from electronic annotation. Source: Ensembl

hypothalamus development

Inferred from electronic annotation. Source: Ensembl

midbrain development

Inferred from electronic annotation. Source: Ensembl

pons development

Inferred from electronic annotation. Source: Ensembl

pyramidal neuron development

Inferred from electronic annotation. Source: Ensembl

respiratory electron transport chain

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

subthalamus development

Inferred from electronic annotation. Source: Ensembl

thalamus development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentmitochondrial inner membrane

Traceable author statement. Source: Reactome

mitochondrion

Inferred from direct assay. Source: HPA

respiratory chain

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionubiquinol-cytochrome-c reductase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.3
Chain2 – 8281Cytochrome b-c1 complex subunit 8
PRO_0000193544

Amino acid modifications

Modified residue331N6-acetyllysine; alternate By similarity
Modified residue331N6-succinyllysine; alternate By similarity
Cross-link33Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate By similarity

Natural variations

Natural variant451S → F in MC3DN4. Ref.5
Corresponds to variant rs11544803 [ dbSNP | Ensembl ].
VAR_045911

Experimental info

Sequence conflict73 – 8210KNPAAYENDK → RIQLPMKMTNEQRIRMTVPC L in BAA23321. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O14949 [UniParc].

Last modified January 23, 2007. Version 4.
Checksum: 5ED13ABDD2990DD2

FASTA829,906
        10         20         30         40         50         60 
MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV PQFVVFYLIY 

        70         80 
TWGTEEFERS KRKNPAAYEN DK 

« Hide

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D50369 mRNA. Translation: BAA23321.1.
BC001390 mRNA. Translation: AAH01390.1.
BC090048 mRNA. Translation: AAH90048.1.
RefSeqNP_055217.2. NM_014402.4.
UniGeneHs.146602.

3D structure databases

ProteinModelPortalO14949.
SMRO14949. Positions 2-80.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117991. 14 interactions.
IntActO14949. 4 interactions.
MINTMINT-1417930.
STRING9606.ENSP00000367934.

PTM databases

PhosphoSiteO14949.

Proteomic databases

PaxDbO14949.
PRIDEO14949.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378665; ENSP00000367934; ENSG00000164405.
ENST00000378667; ENSP00000367936; ENSG00000164405.
ENST00000378670; ENSP00000367939; ENSG00000164405.
GeneID27089.
KEGGhsa:27089.
UCSCuc003kya.1. human.

Organism-specific databases

CTD27089.
GeneCardsGC05P132231.
HGNCHGNC:29594. UQCRQ.
HPAHPA046693.
HPA053323.
MIM612080. gene.
615159. phenotype.
neXtProtNX_O14949.
Orphanet1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBPA142670637.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253869.
HOGENOMHOG000205681.
HOVERGENHBG001468.
InParanoidO14949.
KOK00418.
OMANVWRRFS.
OrthoDBEOG7K3TPV.
PhylomeDBO14949.
TreeFamTF300281.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeO14949.
CleanExHS_UQCRQ.
GenevestigatorO14949.

Family and domain databases

Gene3D1.20.5.210. 1 hit.
InterProIPR004205. Cyt_bc1_su8.
[Graphical view]
PANTHERPTHR12119. PTHR12119. 1 hit.
PfamPF02939. UcrQ. 1 hit.
[Graphical view]
ProDomPD331499. UcrQ. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMSSF81508. SSF81508. 1 hit.
ProtoNetSearch...

Other

ChiTaRSUQCRQ. human.
GenomeRNAi27089.
NextBio49705.
PROO14949.
SOURCESearch...

Entry information

Entry nameQCR8_HUMAN
AccessionPrimary (citable) accession number: O14949
Secondary accession number(s): Q5FVE2, Q9BV88, Q9T2V7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 123 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM