P14927 (QCR7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cytochrome b-c1 complex subunit 7

Alternative name(s):
Complex III subunit 7
Complex III subunit VII
QP-C
Ubiquinol-cytochrome c reductase complex 14 kDa protein

Gene names

Name:	UQCRB
Synonyms:	UQBP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	111 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 component is involved in redox-linked proton pumping.
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	Defects in UQCRB are a cause of 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. Ref.7
Sequence similarities	Belongs to the UQCRB/QCR7 family.
Caution	Was originally thought to be the ubiquinone-binding protein (QP-C).

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	aerobic respiration Traceable author statement. Source: ProtInc mitochondrial electron transport, ubiquinol to cytochrome c Inferred from electronic annotation. Source: InterPro
Cellular component	mitochondrial respiratory chain Traceable author statement. Source: ProtInc
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 By similarity
	Chain	2 – 111	110	Cytochrome b-c1 complex subunit 7		PRO_0000193524
Amino acid modifications
	Modified residue	12	1	N6-acetyllysine By similarity
	Modified residue	78	1	N6-acetyllysine Ref.8
Natural variations
	Natural variant	30	1	L → P. Corresponds to variant rs35895613 [ dbSNP | Ensembl ].		VAR_052443
Experimental info
	Sequence conflict	6	1	A → G in AAA60236. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P14927 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: E61629D06DFA55B7	FASTA	111	13,530
	10 20 30 40 50 60 MAGKQAVSAS GKWLDGIRKW YYNAAGFNKL GLMRDDTIYE DEDVKEAIRR LPENLYNDRM 70 80 90 100 110 FRIKRALDLN LKHQILPKEQ WTKYEEENFY LEPYLKEVIR ERKEREEWAK K

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III." Suzuki H., Yoshitaka H., Toda H., Nishikimi M., Ozawa T. Biochem. Biophys. Res. Commun. 156:987-994(1988) [PubMed: 3056408] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fibroblast.
[2]	"Isolation of a single nuclear gene encoding human ubiquinone-binding protein in complex III of mitochondrial respiratory chain." Suzuki H., Hosokawa Y., Toda H., Nishikimi M., Ozawa T. Biochem. Biophys. Res. Commun. 161:371-378(1989) [PubMed: 2543413] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / 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 (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Urinary bladder.
[6]	"Common protein-binding sites in the 5'-flanking regions of human genes for cytochrome c1 and ubiquinone-binding protein." Suzuki H., Hosokawa Y., Toda H., Nishikimi M., Ozawa T. J. Biol. Chem. 265:8159-8163(1990) [PubMed: 2159470] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6.
[7]	"A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis." Haut S., Brivet M., Touati G., Rustin P., Lebon S., Garcia-Cazorla A., Saudubray J.-M., Boutron A., Legrand A., Slama A. Hum. Genet. 113:118-122(2003) [PubMed: 12709789] [Abstract] Cited for: INVOLVEMENT IN MT-C3D.
[8]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-78, MASS SPECTROMETRY.
[9]	"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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	X13585 mRNA. Translation: CAA31926.1. M22348 mRNA. Translation: AAA60238.1. CR542176 mRNA. Translation: CAG46973.1. CR542196 mRNA. Translation: CAG46993.1. M26730 , M35761, M26706, M26707 Genomic DNA. Translation: AAA60235.1. M26700 mRNA. Translation: AAA60236.1. M26701 Genomic DNA. Translation: AAA60237.1. CH471060 Genomic DNA. Translation: EAW91749.1. BC005230 mRNA. Translation: AAH05230.1. M37387 Genomic DNA. Translation: AAA60361.1. Sequence problems.
IPI	IPI00220416.
PIR	A32450.
RefSeq	NP_001186904.1. NM_001199975.1. NP_006285.1. NM_006294.3.
UniGene	Hs.131255.
3D structure databases
ProteinModelPortal	P14927.
SMR	P14927. Positions 13-111.
ModBase	Search...
Protein-protein interaction databases
IntAct	P14927. 3 interactions.
MINT	MINT-1471523.
STRING	P14927.
PTM databases
PhosphoSite	P14927.
Polymorphism databases
DMDM	136717.
2D gel databases
UCD-2DPAGE	P14927.
Proteomic databases
PRIDE	P14927.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000287022; ENSP00000287022; ENSG00000156467.
GeneID	7381.
KEGG	hsa:7381.
UCSC	uc003yhq.2. human.
Organism-specific databases
CTD	7381.
GeneCards	GC08M097311.
H-InvDB	HIX0007663.
HGNC	HGNC:12582. UQCRB.
HPA	HPA043060.
MIM	124000. phenotype. 191330. gene.
neXtProt	NX_P14927.
Orphanet	1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKB	PA37213.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000012916.
HOGENOM	HBG324319.
HOVERGEN	HBG002984.
InParanoid	P14927.
OMA	YNDRVFR.
OrthoDB	EOG4GHZQS.
PhylomeDB	P14927.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P14927.
Bgee	P14927.
CleanEx	HS_UQCRB.
Genevestigator	P14927.
GermOnline	ENSG00000156467. Homo sapiens.
Family and domain databases
InterPro	IPR003197. Cyt-d_ubiquinol_oxidase_14kDa. [Graphical view]
Gene3D	G3DSA:1.10.1090.10. Cyt_bd_Ubol_Oase_14kDa-su. 1 hit.
KO	K00417.
PANTHER	PTHR12022. UCR_14kDa. 1 hit.
Pfam	PF02271. UCR_14kD. 1 hit. [Graphical view]
PIRSF	PIRSF000022. Bc1_14K. 1 hit.
ProDom	PD008153. Cyt_bd_ubiquinol_oxidase_14kDa. 1 hit. [Graphical view] [Entries sharing at least one domain]
SUPFAM	SSF81524. Cyt_bd_Ubol_Oase_14kDa-su. 1 hit.
ProtoNet	Search...
Other
NextBio	28904.
SOURCE	Search...

Entry information

Entry name

QCR7_HUMAN

Accession

Primary (citable) accession number: P14927
Secondary accession number(s): Q6FGD1

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 121 of the entry and version 2 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.