O14949 (QCR8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

UQCRQ

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	82 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 (MT-C3D) [MIM:124000]: 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 process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Disease	Disease mutation
PTM	Isopeptide bond Ubl conjugation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cerebellar Purkinje cell layer development Inferred from electronic annotation. Source: Compara hippocampus development Inferred from electronic annotation. Source: Compara hypothalamus development Inferred from electronic annotation. Source: Compara midbrain development Inferred from electronic annotation. Source: Compara pons development Inferred from electronic annotation. Source: Compara pyramidal neuron development Inferred from electronic annotation. Source: Compara 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: Compara thalamus development Inferred from electronic annotation. Source: Compara
Cellular_component	mitochondrial inner membrane Traceable author statement. Source: Reactome respiratory chain Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ubiquinol-cytochrome-c reductase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.3
	Chain	2 – 82	81	Cytochrome b-c1 complex subunit 8		PRO_0000193544
Amino acid modifications
	Cross-link	33		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Natural variations
	Natural variant	45	1	S → F in MT-C3D. Ref.5 Corresponds to variant rs11544803 [ dbSNP | Ensembl ].		VAR_045911
Experimental info
	Sequence conflict	73 – 82	10	KNPAAYENDK → RIQLPMKMTNEQRIRMTVPC L in BAA23321. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O14949 [UniParc]. Last modified January 23, 2007. Version 4. Checksum: 5ED13ABDD2990DD2	FASTA	82	9,906
	10 20 30 40 50 60 MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV PQFVVFYLIY 70 80 TWGTEEFERS KRKNPAAYEN DK

References

	« Hide 'large scale' referencesShow '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 MT-C3D 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.
IPI	IPI00024742.
RefSeq	NP_055217.2. NM_014402.4.
UniGene	Hs.146602.
3D structure databases
ProteinModelPortal	O14949.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14949. 4 interactions.
MINT	MINT-1417930.
STRING	9606.ENSP00000367934.
PTM databases
PhosphoSite	O14949.
Proteomic databases
PaxDb	O14949.
PRIDE	O14949.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000378665; ENSP00000367934; ENSG00000164405. ENST00000378667; ENSP00000367936; ENSG00000164405. ENST00000378670; ENSP00000367939; ENSG00000164405.
GeneID	27089.
KEGG	hsa:27089.
UCSC	uc003kya.1. human.
Organism-specific databases
CTD	27089.
GeneCards	GC05P132231.
HGNC	HGNC:29594. UQCRQ.
HPA	HPA046693.
MIM	124000. phenotype. 612080. gene.
neXtProt	NX_O14949.
Orphanet	1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKB	PA142670637.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253869.
HOGENOM	HOG000205681.
HOVERGEN	HBG001468.
InParanoid	O14949.
KO	K00418.
OMA	GNLAKVH.
OrthoDB	EOG4PG62J.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
Bgee	O14949.
CleanEx	HS_UQCRQ.
Genevestigator	O14949.
GermOnline	ENSG00000164405. Homo sapiens.
Family and domain databases
Gene3D	1.20.5.210. 1 hit.
InterPro	IPR004205. Cyt_bc1_su8. [Graphical view]
PANTHER	PTHR12119. PTHR12119. 1 hit.
Pfam	PF02939. UcrQ. 1 hit. [Graphical view]
ProDom	PD331499. UcrQ. 1 hit. [Graphical view] [Entries sharing at least one domain]
SUPFAM	SSF81508. UcrQ. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	UQCRQ. human.
GenomeRNAi	27089.
NextBio	49705.
SOURCE	Search...

Entry information

Entry name

QCR8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 116 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.