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) [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	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	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.8
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	Alternative splicing Polymorphism
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	aerobic respiration Traceable author statement Ref.1. Source: ProtInc mitochondrial electron transport, ubiquinol to cytochrome c Inferred from electronic annotation. Source: InterPro oxidative phosphorylation Traceable author statement Ref.1. Source: ProtInc respiratory electron transport chain Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	mitochondrial respiratory chain Traceable author statement Ref.1. Source: ProtInc mitochondrial respiratory chain complex III Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P14927-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P14927-2)

The sequence of this isoform differs from the canonical sequence as follows:
     87-111: ENFYLEPYLKEVIRERKEREEWAKK → VFAVPALHSA...QRKISTLNRI

Note: No experimental confirmation available.

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	2	1	N-acetylalanine By similarity
	Modified residue	12	1	N6-acetyllysine By similarity
Natural variations
	Alternative sequence	87 – 111	25	ENFYL…EWAKK → VFAVPALHSASYLDEKISPL SVPPDPKKSFCEANSHPLNC IETRQRKISTLNRI in isoform 2.		VSP_045601
	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)
	Isoform 1 [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
	Isoform 2 [UniParc]. Checksum: 478C935E0C90E188	FASTA	140	16,267
	10 20 30 40 50 60 MAGKQAVSAS GKWLDGIRKW YYNAAGFNKL GLMRDDTIYE DEDVKEAIRR LPENLYNDRM 70 80 90 100 110 120 FRIKRALDLN LKHQILPKEQ WTKYEEVFAV PALHSASYLD EKISPLSVPP DPKKSFCEAN 130 140 SHPLNCIETR QRKISTLNRI

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[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] (ISOFORM 1).
[4]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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].
[6]	"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] (ISOFORMS 1 AND 2). Tissue: Urinary bladder.
[7]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6.
[8]	"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] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MT-C3D.
[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] [Europe PMC] [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. AP003465 Genomic DNA. No translation available. CH471060 Genomic DNA. Translation: EAW91749.1. BC005230 mRNA. Translation: AAH05230.1. BU535281 mRNA. No translation available. M37387 Genomic DNA. Translation: AAA60361.1. Sequence problems.
IPI	IPI00220416. IPI00790644.
PIR	A32450.
RefSeq	NP_001186904.1. NM_001199975.2. NP_001241681.1. NM_001254752.1. NP_006285.1. NM_006294.4.
UniGene	Hs.131255.
3D structure databases
ProteinModelPortal	P14927.
ModBase	Search...
Protein-protein interaction databases
IntAct	P14927. 3 interactions.
MINT	MINT-1471523.
STRING	9606.ENSP00000287022.
PTM databases
PhosphoSite	P14927.
Polymorphism databases
DMDM	136717.
2D gel databases
UCD-2DPAGE	P14927.
Proteomic databases
PaxDb	P14927.
PRIDE	P14927.
Protocols and materials databases
DNASU	7381.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000287022; ENSP00000287022; ENSG00000156467. ENST00000518406; ENSP00000430494; ENSG00000156467.
GeneID	7381.
KEGG	hsa:7381.
UCSC	uc003yhq.4. human.
Organism-specific databases
CTD	7381.
GeneCards	GC08M097311.
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
eggNOG	NOG235867.
HOGENOM	HOG000188221.
HOVERGEN	HBG002984.
InParanoid	P14927.
KO	K00417.
OMA	MRDDTIH.
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
Gene3D	1.10.1090.10. 1 hit.
InterPro	IPR003197. QCR7. [Graphical view]
PANTHER	PTHR12022. PTHR12022. 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
ChEMBL	CHEMBL1671612.
GenomeRNAi	7381.
NextBio	28904.
SOURCE	Search...

Entry information

Entry name

QCR7_HUMAN

Accession

Primary (citable) accession number: P14927
Secondary accession number(s): E5RJU0, Q6FGD1

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 134 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.