Full text data of UQCRB
UQCRB
(UQBP)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Cytochrome b-c1 complex subunit 7 (Complex III subunit 7; Complex III subunit VII; QP-C; Ubiquinol-cytochrome c reductase complex 14 kDa protein)
Cytochrome b-c1 complex subunit 7 (Complex III subunit 7; Complex III subunit VII; QP-C; Ubiquinol-cytochrome c reductase complex 14 kDa protein)
UniProt
P14927
ID QCR7_HUMAN Reviewed; 111 AA.
AC P14927; E5RJU0; Q6FGD1;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 141.
DE RecName: Full=Cytochrome b-c1 complex subunit 7;
DE AltName: Full=Complex III subunit 7;
DE AltName: Full=Complex III subunit VII;
DE AltName: Full=QP-C;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex 14 kDa protein;
GN Name=UQCRB; Synonyms=UQBP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Fibroblast;
RX PubMed=3056408; DOI=10.1016/S0006-291X(88)80941-0;
RA Suzuki H., Yoshitaka H., Toda H., Nishikimi M., Ozawa T.;
RT "Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-
RT binding protein of complex III.";
RL Biochem. Biophys. Res. Commun. 156:987-994(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX PubMed=2543413; DOI=10.1016/0006-291X(89)91607-0;
RA Suzuki H., Hosokawa Y., Toda H., Nishikimi M., Ozawa T.;
RT "Isolation of a single nuclear gene encoding human ubiquinone-binding
RT protein in complex III of mitochondrial respiratory chain.";
RL Biochem. Biophys. Res. Commun. 161:371-378(1989).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6.
RX PubMed=2159470;
RA Suzuki H., Hosokawa Y., Toda H., Nishikimi M., Ozawa T.;
RT "Common protein-binding sites in the 5'-flanking regions of human
RT genes for cytochrome c1 and ubiquinone-binding protein.";
RL J. Biol. Chem. 265:8159-8163(1990).
RN [8]
RP INVOLVEMENT IN MC3DN3.
RX PubMed=12709789; DOI=10.1007/s00439-003-0946-0;
RA Haut S., Brivet M., Touati G., Rustin P., Lebon S., Garcia-Cazorla A.,
RA Saudubray J.-M., Boutron A., Legrand A., Slama A.;
RT "A deletion in the human QP-C gene causes a complex III deficiency
RT resulting in hypoglycaemia and lactic acidosis.";
RL Hum. Genet. 113:118-122(2003).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: This is a component of the ubiquinol-cytochrome c
CC reductase complex (complex III or cytochrome b-c1 complex), which
CC is part of the mitochondrial respiratory chain. This component is
CC involved in redox-linked proton pumping.
CC -!- SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory
CC subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core
CC proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight
CC proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9,
CC UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P14927-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P14927-2; Sequence=VSP_045601;
CC Note=No experimental confirmation available;
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 3 (MC3DN3)
CC [MIM:615158]: A disorder of the mitochondrial respiratory chain
CC resulting in a highly variable phenotype depending on which
CC tissues are affected. Clinical features include mitochondrial
CC encephalopathy, psychomotor retardation, ataxia, severe failure to
CC thrive, liver dysfunction, renal tubulopathy, muscle weakness and
CC exercise intolerance. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the UQCRB/QCR7 family.
CC -!- CAUTION: Was originally thought to be the ubiquinone-binding
CC protein (QP-C).
CC -!- WEB RESOURCE: Name=GeneReviews;
CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UQCRB";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X13585; CAA31926.1; -; mRNA.
DR EMBL; M22348; AAA60238.1; -; mRNA.
DR EMBL; CR542176; CAG46973.1; -; mRNA.
DR EMBL; CR542196; CAG46993.1; -; mRNA.
DR EMBL; M26730; AAA60235.1; -; Genomic_DNA.
DR EMBL; M35761; AAA60235.1; JOINED; Genomic_DNA.
DR EMBL; M26706; AAA60235.1; JOINED; Genomic_DNA.
DR EMBL; M26707; AAA60235.1; JOINED; Genomic_DNA.
DR EMBL; M26700; AAA60236.1; -; mRNA.
DR EMBL; M26701; AAA60237.1; -; Genomic_DNA.
DR EMBL; AP003465; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471060; EAW91749.1; -; Genomic_DNA.
DR EMBL; BC005230; AAH05230.1; -; mRNA.
DR EMBL; BU535281; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; M37387; AAA60361.1; ALT_SEQ; Genomic_DNA.
DR PIR; A32450; A32450.
DR RefSeq; NP_001186904.1; NM_001199975.2.
DR RefSeq; NP_001241681.1; NM_001254752.1.
DR RefSeq; NP_006285.1; NM_006294.4.
DR UniGene; Hs.131255; -.
DR ProteinModelPortal; P14927; -.
DR SMR; P14927; 13-111.
DR IntAct; P14927; 3.
DR MINT; MINT-1471523; -.
DR STRING; 9606.ENSP00000287022; -.
DR ChEMBL; CHEMBL1671612; -.
DR PhosphoSite; P14927; -.
DR DMDM; 136717; -.
DR UCD-2DPAGE; P14927; -.
DR PaxDb; P14927; -.
DR PRIDE; P14927; -.
DR DNASU; 7381; -.
DR Ensembl; ENST00000287022; ENSP00000287022; ENSG00000156467.
DR Ensembl; ENST00000518406; ENSP00000430494; ENSG00000156467.
DR GeneID; 7381; -.
DR KEGG; hsa:7381; -.
DR UCSC; uc022ayx.1; human.
DR CTD; 7381; -.
DR GeneCards; GC08M097311; -.
DR HGNC; HGNC:12582; UQCRB.
DR HPA; HPA043060; -.
DR MIM; 191330; gene.
DR MIM; 615158; phenotype.
DR neXtProt; NX_P14927; -.
DR Orphanet; 1460; Isolated CoQ-cytochrome C reductase deficiency.
DR PharmGKB; PA37213; -.
DR eggNOG; NOG235867; -.
DR HOGENOM; HOG000188221; -.
DR HOVERGEN; HBG002984; -.
DR InParanoid; P14927; -.
DR KO; K00417; -.
DR OMA; IRRAVQC; -.
DR OrthoDB; EOG7VDXR7; -.
DR PhylomeDB; P14927; -.
DR Reactome; REACT_111217; Metabolism.
DR GeneWiki; UQCRB; -.
DR GenomeRNAi; 7381; -.
DR NextBio; 28904; -.
DR PRO; PR:P14927; -.
DR ArrayExpress; P14927; -.
DR Bgee; P14927; -.
DR CleanEx; HS_UQCRB; -.
DR Genevestigator; P14927; -.
DR GO; GO:0005746; C:mitochondrial respiratory chain; TAS:ProtInc.
DR GO; GO:0005750; C:mitochondrial respiratory chain complex III; IEA:InterPro.
DR GO; GO:0009060; P:aerobic respiration; TAS:ProtInc.
DR GO; GO:0006122; P:mitochondrial electron transport, ubiquinol to cytochrome c; IEA:InterPro.
DR GO; GO:0006119; P:oxidative phosphorylation; TAS:ProtInc.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR Gene3D; 1.10.1090.10; -; 1.
DR InterPro; IPR003197; QCR7.
DR PANTHER; PTHR12022; PTHR12022; 1.
DR Pfam; PF02271; UCR_14kD; 1.
DR PIRSF; PIRSF000022; Bc1_14K; 1.
DR ProDom; PD008153; Cyt_bd_ubiquinol_oxidase_14kDa; 1.
DR SUPFAM; SSF81524; SSF81524; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome;
KW Electron transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Polymorphism; Reference proteome;
KW Respiratory chain; Transport.
FT INIT_MET 1 1 Removed (By similarity).
FT CHAIN 2 111 Cytochrome b-c1 complex subunit 7.
FT /FTId=PRO_0000193524.
FT MOD_RES 2 2 N-acetylalanine (By similarity).
FT MOD_RES 12 12 N6-acetyllysine (By similarity).
FT MOD_RES 19 19 N6-acetyllysine (By similarity).
FT MOD_RES 78 78 N6-acetyllysine (By similarity).
FT MOD_RES 83 83 N6-acetyllysine (By similarity).
FT MOD_RES 96 96 N6-acetyllysine (By similarity).
FT VAR_SEQ 87 111 ENFYLEPYLKEVIRERKEREEWAKK -> VFAVPALHSASY
FT LDEKISPLSVPPDPKKSFCEANSHPLNCIETRQRKISTLNR
FT I (in isoform 2).
FT /FTId=VSP_045601.
FT VARIANT 30 30 L -> P (in dbSNP:rs35895613).
FT /FTId=VAR_052443.
FT CONFLICT 6 6 A -> G (in Ref. 2; AAA60236).
SQ SEQUENCE 111 AA; 13530 MW; E61629D06DFA55B7 CRC64;
MAGKQAVSAS GKWLDGIRKW YYNAAGFNKL GLMRDDTIYE DEDVKEAIRR LPENLYNDRM
FRIKRALDLN LKHQILPKEQ WTKYEEENFY LEPYLKEVIR ERKEREEWAK K
//
ID QCR7_HUMAN Reviewed; 111 AA.
AC P14927; E5RJU0; Q6FGD1;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 141.
DE RecName: Full=Cytochrome b-c1 complex subunit 7;
DE AltName: Full=Complex III subunit 7;
DE AltName: Full=Complex III subunit VII;
DE AltName: Full=QP-C;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex 14 kDa protein;
GN Name=UQCRB; Synonyms=UQBP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Fibroblast;
RX PubMed=3056408; DOI=10.1016/S0006-291X(88)80941-0;
RA Suzuki H., Yoshitaka H., Toda H., Nishikimi M., Ozawa T.;
RT "Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-
RT binding protein of complex III.";
RL Biochem. Biophys. Res. Commun. 156:987-994(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX PubMed=2543413; DOI=10.1016/0006-291X(89)91607-0;
RA Suzuki H., Hosokawa Y., Toda H., Nishikimi M., Ozawa T.;
RT "Isolation of a single nuclear gene encoding human ubiquinone-binding
RT protein in complex III of mitochondrial respiratory chain.";
RL Biochem. Biophys. Res. Commun. 161:371-378(1989).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6.
RX PubMed=2159470;
RA Suzuki H., Hosokawa Y., Toda H., Nishikimi M., Ozawa T.;
RT "Common protein-binding sites in the 5'-flanking regions of human
RT genes for cytochrome c1 and ubiquinone-binding protein.";
RL J. Biol. Chem. 265:8159-8163(1990).
RN [8]
RP INVOLVEMENT IN MC3DN3.
RX PubMed=12709789; DOI=10.1007/s00439-003-0946-0;
RA Haut S., Brivet M., Touati G., Rustin P., Lebon S., Garcia-Cazorla A.,
RA Saudubray J.-M., Boutron A., Legrand A., Slama A.;
RT "A deletion in the human QP-C gene causes a complex III deficiency
RT resulting in hypoglycaemia and lactic acidosis.";
RL Hum. Genet. 113:118-122(2003).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: This is a component of the ubiquinol-cytochrome c
CC reductase complex (complex III or cytochrome b-c1 complex), which
CC is part of the mitochondrial respiratory chain. This component is
CC involved in redox-linked proton pumping.
CC -!- SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory
CC subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core
CC proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight
CC proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9,
CC UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P14927-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P14927-2; Sequence=VSP_045601;
CC Note=No experimental confirmation available;
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 3 (MC3DN3)
CC [MIM:615158]: A disorder of the mitochondrial respiratory chain
CC resulting in a highly variable phenotype depending on which
CC tissues are affected. Clinical features include mitochondrial
CC encephalopathy, psychomotor retardation, ataxia, severe failure to
CC thrive, liver dysfunction, renal tubulopathy, muscle weakness and
CC exercise intolerance. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the UQCRB/QCR7 family.
CC -!- CAUTION: Was originally thought to be the ubiquinone-binding
CC protein (QP-C).
CC -!- WEB RESOURCE: Name=GeneReviews;
CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UQCRB";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X13585; CAA31926.1; -; mRNA.
DR EMBL; M22348; AAA60238.1; -; mRNA.
DR EMBL; CR542176; CAG46973.1; -; mRNA.
DR EMBL; CR542196; CAG46993.1; -; mRNA.
DR EMBL; M26730; AAA60235.1; -; Genomic_DNA.
DR EMBL; M35761; AAA60235.1; JOINED; Genomic_DNA.
DR EMBL; M26706; AAA60235.1; JOINED; Genomic_DNA.
DR EMBL; M26707; AAA60235.1; JOINED; Genomic_DNA.
DR EMBL; M26700; AAA60236.1; -; mRNA.
DR EMBL; M26701; AAA60237.1; -; Genomic_DNA.
DR EMBL; AP003465; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471060; EAW91749.1; -; Genomic_DNA.
DR EMBL; BC005230; AAH05230.1; -; mRNA.
DR EMBL; BU535281; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; M37387; AAA60361.1; ALT_SEQ; Genomic_DNA.
DR PIR; A32450; A32450.
DR RefSeq; NP_001186904.1; NM_001199975.2.
DR RefSeq; NP_001241681.1; NM_001254752.1.
DR RefSeq; NP_006285.1; NM_006294.4.
DR UniGene; Hs.131255; -.
DR ProteinModelPortal; P14927; -.
DR SMR; P14927; 13-111.
DR IntAct; P14927; 3.
DR MINT; MINT-1471523; -.
DR STRING; 9606.ENSP00000287022; -.
DR ChEMBL; CHEMBL1671612; -.
DR PhosphoSite; P14927; -.
DR DMDM; 136717; -.
DR UCD-2DPAGE; P14927; -.
DR PaxDb; P14927; -.
DR PRIDE; P14927; -.
DR DNASU; 7381; -.
DR Ensembl; ENST00000287022; ENSP00000287022; ENSG00000156467.
DR Ensembl; ENST00000518406; ENSP00000430494; ENSG00000156467.
DR GeneID; 7381; -.
DR KEGG; hsa:7381; -.
DR UCSC; uc022ayx.1; human.
DR CTD; 7381; -.
DR GeneCards; GC08M097311; -.
DR HGNC; HGNC:12582; UQCRB.
DR HPA; HPA043060; -.
DR MIM; 191330; gene.
DR MIM; 615158; phenotype.
DR neXtProt; NX_P14927; -.
DR Orphanet; 1460; Isolated CoQ-cytochrome C reductase deficiency.
DR PharmGKB; PA37213; -.
DR eggNOG; NOG235867; -.
DR HOGENOM; HOG000188221; -.
DR HOVERGEN; HBG002984; -.
DR InParanoid; P14927; -.
DR KO; K00417; -.
DR OMA; IRRAVQC; -.
DR OrthoDB; EOG7VDXR7; -.
DR PhylomeDB; P14927; -.
DR Reactome; REACT_111217; Metabolism.
DR GeneWiki; UQCRB; -.
DR GenomeRNAi; 7381; -.
DR NextBio; 28904; -.
DR PRO; PR:P14927; -.
DR ArrayExpress; P14927; -.
DR Bgee; P14927; -.
DR CleanEx; HS_UQCRB; -.
DR Genevestigator; P14927; -.
DR GO; GO:0005746; C:mitochondrial respiratory chain; TAS:ProtInc.
DR GO; GO:0005750; C:mitochondrial respiratory chain complex III; IEA:InterPro.
DR GO; GO:0009060; P:aerobic respiration; TAS:ProtInc.
DR GO; GO:0006122; P:mitochondrial electron transport, ubiquinol to cytochrome c; IEA:InterPro.
DR GO; GO:0006119; P:oxidative phosphorylation; TAS:ProtInc.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR Gene3D; 1.10.1090.10; -; 1.
DR InterPro; IPR003197; QCR7.
DR PANTHER; PTHR12022; PTHR12022; 1.
DR Pfam; PF02271; UCR_14kD; 1.
DR PIRSF; PIRSF000022; Bc1_14K; 1.
DR ProDom; PD008153; Cyt_bd_ubiquinol_oxidase_14kDa; 1.
DR SUPFAM; SSF81524; SSF81524; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome;
KW Electron transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Polymorphism; Reference proteome;
KW Respiratory chain; Transport.
FT INIT_MET 1 1 Removed (By similarity).
FT CHAIN 2 111 Cytochrome b-c1 complex subunit 7.
FT /FTId=PRO_0000193524.
FT MOD_RES 2 2 N-acetylalanine (By similarity).
FT MOD_RES 12 12 N6-acetyllysine (By similarity).
FT MOD_RES 19 19 N6-acetyllysine (By similarity).
FT MOD_RES 78 78 N6-acetyllysine (By similarity).
FT MOD_RES 83 83 N6-acetyllysine (By similarity).
FT MOD_RES 96 96 N6-acetyllysine (By similarity).
FT VAR_SEQ 87 111 ENFYLEPYLKEVIRERKEREEWAKK -> VFAVPALHSASY
FT LDEKISPLSVPPDPKKSFCEANSHPLNCIETRQRKISTLNR
FT I (in isoform 2).
FT /FTId=VSP_045601.
FT VARIANT 30 30 L -> P (in dbSNP:rs35895613).
FT /FTId=VAR_052443.
FT CONFLICT 6 6 A -> G (in Ref. 2; AAA60236).
SQ SEQUENCE 111 AA; 13530 MW; E61629D06DFA55B7 CRC64;
MAGKQAVSAS GKWLDGIRKW YYNAAGFNKL GLMRDDTIYE DEDVKEAIRR LPENLYNDRM
FRIKRALDLN LKHQILPKEQ WTKYEEENFY LEPYLKEVIR ERKEREEWAK K
//
MIM
191330
*RECORD*
*FIELD* NO
191330
*FIELD* TI
*191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB
;;UBIQUINONE-BINDING PROTEIN; UQBC;;
read moreUQPC
*FIELD* TX
DESCRIPTION
The ubiquinone-binding protein is a nucleus-encoded component of
ubiquinol-cytochrome c oxidoreductase (Complex III; EC 1.10.2.2) in the
mitochondrial respiratory chain and plays an important role in electron
transfer as a complex of ubiquinone and QP-C. Complex III consists of 10
nuclear-encoded subunits and 1 mitochondrial-encoded subunit (cytochrome
b; 516020).
CLONING
Suzuki et al. (1988) obtained a partial cDNA for rat liver QP-C and used
this cDNA as a probe for isolating the human cDNA clone from a human
fibroblast cDNA library by colony hybridization. The total length of the
cloned cDNA was 518 basepairs with an open reading frame of 333
basepairs. The 111-amino acid sequence deduced from the nucleotide
sequence of the cDNA showed 85% identity to that of bovine QP-C and
contained only a single additional amino-terminal methionine. This
implied that the human QP-C is synthesized without a presequence which
is required for import of most nucleus-encoded mitochondrial proteins
into mitochondria.
MAPPING
Hosokawa et al. (1990) mapped the UQPC gene to chromosome 8 by study of
human-mouse somatic cell hybrids.
MOLECULAR GENETICS
In a Turkish girl with mitochondrial complex III deficiency nuclear type
3 (MC3DN3; 615158), Haut et al. (2003) identified a homozygous mutation
in the UQCRB gene (191330.0001). The authors stated that this was the
first mutation identified in one of the nuclear-encoded subunits of
complex III. The patient had episodic metabolic decompensation with
hypoglycemia, lactic acidosis, and transient liver dysfunction, but
showed normal psychomotor development at age 4 years.
*FIELD* AV
.0001
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
UQCRB, 4-BP DEL, NT338
In a Turkish girl, born of consanguineous parents, with mitochondrial
complex III deficiency nuclear type 3 (MC3DN3; 124000), Haut et al.
(2003) identified a homozygous 4-bp deletion (nucleotides 338-341) in
exon 4 of the UQCRB gene, predicting a change in the last 7 amino acids
and the addition of a stretch of 14 amino acids at the C-terminal end of
the protein. Both parents were healthy and were found to be heterozygous
for the deletion. The patient had episodic metabolic decompensation with
hypoglycemia, lactic acidosis, and transient liver dysfunction, but
showed normal psychomotor development at age 4 years.
*FIELD* RF
1. Haut, S.; Brivet, M.; Touati, G.; Rustin, P.; Lebon, S.; Garcia-Cazorla,
A.; Saudubray, J. M.; Boutron, A.; Legrand, A.; Slama, A.: A deletion
in the human QP-C gene causes a complex III deficiency resulting in
hypoglycaemia and lactic acidosis. Hum. Genet. 113: 118-122, 2003.
2. Hosokawa, Y.; Suzuki, H.; Nishikimi, M.; Matsukage, A.; Yoshida,
M. C.; Ozawa, T.: Chromosomal assignment of the gene for the ubiquinone-binding
protein of human mitochondrial cytochrome bc1 complex. Biochem. Int. 21:
41-44, 1990.
3. Suzuki, H.; Hosokawa, Y.; Toda, H.; Nishikimi, M.; Ozawa, T.:
Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding
protein of complex III. Biochem. Biophys. Res. Commun. 156: 987-994,
1988.
*FIELD* CN
Victor A. McKusick - updated: 7/9/2003
*FIELD* CD
Victor A. McKusick: 12/8/1988
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013
carol: 9/21/2005
ckniffin: 8/29/2005
mgross: 3/17/2004
carol: 7/18/2003
terry: 7/9/2003
tkritzer: 3/4/2003
carol: 8/19/1998
carol: 4/21/1992
supermim: 3/16/1992
carol: 9/3/1991
carol: 3/20/1991
supermim: 3/20/1990
ddp: 10/27/1989
*RECORD*
*FIELD* NO
191330
*FIELD* TI
*191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB
;;UBIQUINONE-BINDING PROTEIN; UQBC;;
read moreUQPC
*FIELD* TX
DESCRIPTION
The ubiquinone-binding protein is a nucleus-encoded component of
ubiquinol-cytochrome c oxidoreductase (Complex III; EC 1.10.2.2) in the
mitochondrial respiratory chain and plays an important role in electron
transfer as a complex of ubiquinone and QP-C. Complex III consists of 10
nuclear-encoded subunits and 1 mitochondrial-encoded subunit (cytochrome
b; 516020).
CLONING
Suzuki et al. (1988) obtained a partial cDNA for rat liver QP-C and used
this cDNA as a probe for isolating the human cDNA clone from a human
fibroblast cDNA library by colony hybridization. The total length of the
cloned cDNA was 518 basepairs with an open reading frame of 333
basepairs. The 111-amino acid sequence deduced from the nucleotide
sequence of the cDNA showed 85% identity to that of bovine QP-C and
contained only a single additional amino-terminal methionine. This
implied that the human QP-C is synthesized without a presequence which
is required for import of most nucleus-encoded mitochondrial proteins
into mitochondria.
MAPPING
Hosokawa et al. (1990) mapped the UQPC gene to chromosome 8 by study of
human-mouse somatic cell hybrids.
MOLECULAR GENETICS
In a Turkish girl with mitochondrial complex III deficiency nuclear type
3 (MC3DN3; 615158), Haut et al. (2003) identified a homozygous mutation
in the UQCRB gene (191330.0001). The authors stated that this was the
first mutation identified in one of the nuclear-encoded subunits of
complex III. The patient had episodic metabolic decompensation with
hypoglycemia, lactic acidosis, and transient liver dysfunction, but
showed normal psychomotor development at age 4 years.
*FIELD* AV
.0001
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
UQCRB, 4-BP DEL, NT338
In a Turkish girl, born of consanguineous parents, with mitochondrial
complex III deficiency nuclear type 3 (MC3DN3; 124000), Haut et al.
(2003) identified a homozygous 4-bp deletion (nucleotides 338-341) in
exon 4 of the UQCRB gene, predicting a change in the last 7 amino acids
and the addition of a stretch of 14 amino acids at the C-terminal end of
the protein. Both parents were healthy and were found to be heterozygous
for the deletion. The patient had episodic metabolic decompensation with
hypoglycemia, lactic acidosis, and transient liver dysfunction, but
showed normal psychomotor development at age 4 years.
*FIELD* RF
1. Haut, S.; Brivet, M.; Touati, G.; Rustin, P.; Lebon, S.; Garcia-Cazorla,
A.; Saudubray, J. M.; Boutron, A.; Legrand, A.; Slama, A.: A deletion
in the human QP-C gene causes a complex III deficiency resulting in
hypoglycaemia and lactic acidosis. Hum. Genet. 113: 118-122, 2003.
2. Hosokawa, Y.; Suzuki, H.; Nishikimi, M.; Matsukage, A.; Yoshida,
M. C.; Ozawa, T.: Chromosomal assignment of the gene for the ubiquinone-binding
protein of human mitochondrial cytochrome bc1 complex. Biochem. Int. 21:
41-44, 1990.
3. Suzuki, H.; Hosokawa, Y.; Toda, H.; Nishikimi, M.; Ozawa, T.:
Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding
protein of complex III. Biochem. Biophys. Res. Commun. 156: 987-994,
1988.
*FIELD* CN
Victor A. McKusick - updated: 7/9/2003
*FIELD* CD
Victor A. McKusick: 12/8/1988
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013
carol: 9/21/2005
ckniffin: 8/29/2005
mgross: 3/17/2004
carol: 7/18/2003
terry: 7/9/2003
tkritzer: 3/4/2003
carol: 8/19/1998
carol: 4/21/1992
supermim: 3/16/1992
carol: 9/3/1991
carol: 3/20/1991
supermim: 3/20/1990
ddp: 10/27/1989
MIM
615158
*RECORD*
*FIELD* NO
615158
*FIELD* TI
#615158 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3
*FIELD* TX
A number sign (#) is used with this entry because mitochondrial complex
read moreIII deficiency nuclear type 3 (MC3DN3) can be caused by homozygous
mutation in the UQCRB gene (191330) on chromosome 8q22.
For a general phenotypic description and a discussion of genetic
heterogeneity of mitochondrial complex III deficiency, see MC3DN1
(124000).
CLINICAL FEATURES
Haut et al. (2003) reported a Turkish girl, born of consanguineous
parents, with complex III deficiency. She developed normally until 8
months of age when she presented with an episode of acute
gastroenteritis. Laboratory investigations showed hypoglycemia,
metabolic acidosis, and, during metabolic crisis, hyperlactatemia. At
the age of 4 years her growth was normal and there were no signs of
psychomotor retardation or neurologic impairment. Liver enlargement at
initial presentation disappeared progressively, and liver size was
normal by 19 months of age. There had been 2 further episodes of
hypoglycemia with metabolic acidosis at 2.5 years of age.
INHERITANCE
The transmission pattern in the family with MC3DN3 reported by Haut et
al. (2003) was consistent with autosomal recessive inheritance.
MOLECULAR GENETICS
In a Turkish girl with complex III deficiency, Haut et al. (2003)
identified a homozygous mutation in the UQCRB gene (191330.0001). Each
unaffected parent was heterozygous for the mutation.
*FIELD* RF
1. Haut, S.; Brivet, M.; Touati, G.; Rustin, P.; Lebon, S.; Garcia-Cazorla,
A.; Saudubray, J. M.; Boutron, A.; Legrand, A.; Slama, A.: A deletion
in the human QP-C gene causes a complex III deficiency resulting in
hypoglycaemia and lactic acidosis. Hum. Genet. 113: 118-122, 2003.
*FIELD* CS
INHERITANCE:
Autosomal recessive
ABDOMEN:
[Liver];
Hepatomegaly, transient
NEUROLOGIC:
[Central nervous system];
Normal psychomotor development
METABOLIC FEATURES:
Metabolic acidosis
LABORATORY ABNORMALITIES:
Increased serum lactate during metabolic crisis;
Hypoglycemia;
Decreased mitochondrial complex III activity in liver and fibroblasts
MISCELLANEOUS:
Onset in late infancy;
Episodic metabolic decompensation, usually associated with illness;
One Turkish girl has been reported (last curated April 2013)
MOLECULAR BASIS:
Caused by mutation in the ubiquinol-cytochrome c reductase-protein
gene (UQCRB, 191330.0001).
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
joanna: 10/03/2013
ckniffin: 4/8/2013
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013
*RECORD*
*FIELD* NO
615158
*FIELD* TI
#615158 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3
*FIELD* TX
A number sign (#) is used with this entry because mitochondrial complex
read moreIII deficiency nuclear type 3 (MC3DN3) can be caused by homozygous
mutation in the UQCRB gene (191330) on chromosome 8q22.
For a general phenotypic description and a discussion of genetic
heterogeneity of mitochondrial complex III deficiency, see MC3DN1
(124000).
CLINICAL FEATURES
Haut et al. (2003) reported a Turkish girl, born of consanguineous
parents, with complex III deficiency. She developed normally until 8
months of age when she presented with an episode of acute
gastroenteritis. Laboratory investigations showed hypoglycemia,
metabolic acidosis, and, during metabolic crisis, hyperlactatemia. At
the age of 4 years her growth was normal and there were no signs of
psychomotor retardation or neurologic impairment. Liver enlargement at
initial presentation disappeared progressively, and liver size was
normal by 19 months of age. There had been 2 further episodes of
hypoglycemia with metabolic acidosis at 2.5 years of age.
INHERITANCE
The transmission pattern in the family with MC3DN3 reported by Haut et
al. (2003) was consistent with autosomal recessive inheritance.
MOLECULAR GENETICS
In a Turkish girl with complex III deficiency, Haut et al. (2003)
identified a homozygous mutation in the UQCRB gene (191330.0001). Each
unaffected parent was heterozygous for the mutation.
*FIELD* RF
1. Haut, S.; Brivet, M.; Touati, G.; Rustin, P.; Lebon, S.; Garcia-Cazorla,
A.; Saudubray, J. M.; Boutron, A.; Legrand, A.; Slama, A.: A deletion
in the human QP-C gene causes a complex III deficiency resulting in
hypoglycaemia and lactic acidosis. Hum. Genet. 113: 118-122, 2003.
*FIELD* CS
INHERITANCE:
Autosomal recessive
ABDOMEN:
[Liver];
Hepatomegaly, transient
NEUROLOGIC:
[Central nervous system];
Normal psychomotor development
METABOLIC FEATURES:
Metabolic acidosis
LABORATORY ABNORMALITIES:
Increased serum lactate during metabolic crisis;
Hypoglycemia;
Decreased mitochondrial complex III activity in liver and fibroblasts
MISCELLANEOUS:
Onset in late infancy;
Episodic metabolic decompensation, usually associated with illness;
One Turkish girl has been reported (last curated April 2013)
MOLECULAR BASIS:
Caused by mutation in the ubiquinol-cytochrome c reductase-protein
gene (UQCRB, 191330.0001).
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
joanna: 10/03/2013
ckniffin: 4/8/2013
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013