QCR8_HUMAN
ID QCR8_HUMAN Reviewed; 82 AA.
AC O14949; Q5FVE2; Q9BV88; Q9T2V7;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 4.
DT 03-AUG-2022, entry version 183.
DE RecName: Full=Cytochrome b-c1 complex subunit 8;
DE AltName: Full=Complex III subunit 8;
DE AltName: Full=Complex III subunit VIII;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex 9.5 kDa protein;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C;
GN Name=UQCRQ;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Fujiwara T., Kawai A., Shimizu F., Shinomiya K., Hirano H., Okuno S.,
RA Ozaki K., Katagiri T., Takeda S., Kuga Y., Shimada Y., Nagata M.,
RA Takaichi A., Watanabe T., Horie M., Nakamura Y., Takahashi E., Hirai Y.;
RT "Molecular cloning of a human homologue of bovine low molecular mass
RT ubiquinone-binding protein gene.";
RL Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pituitary, and Skin;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PROTEIN SEQUENCE OF 2-16.
RC TISSUE=Heart, and Liver;
RX PubMed=8592474; DOI=10.1016/0076-6879(95)60132-5;
RA Schaegger H., Brandt U., Gencic S., von Jagow G.;
RT "Ubiquinol-cytochrome-c reductase from human and bovine mitochondria.";
RL Methods Enzymol. 260:82-96(1995).
RN [4]
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., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [7]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.40 ANGSTROMS).
RX PubMed=28844695; DOI=10.1016/j.cell.2017.07.050;
RA Guo R., Zong S., Wu M., Gu J., Yang M.;
RT "Architecture of human mitochondrial respiratory megacomplex I2III2IV2.";
RL Cell 170:1247-1257(2017).
RN [8]
RP VARIANT MC3DN4 PHE-45.
RX PubMed=18439546; DOI=10.1016/j.ajhg.2008.03.020;
RA Barel O., Shorer Z., Flusser H., Ofir R., Narkis G., Finer G., Shalev H.,
RA Nasasra A., Saada A., Birk O.S.;
RT "Mitochondrial complex III deficiency associated with a homozygous mutation
RT in UQCRQ.";
RL Am. J. Hum. Genet. 82:1211-1216(2008).
CC -!- FUNCTION: Component of the ubiquinol-cytochrome c oxidoreductase, a
CC multisubunit transmembrane complex that is part of the mitochondrial
CC electron transport chain which drives oxidative phosphorylation. The
CC respiratory chain contains 3 multisubunit complexes succinate
CC dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase
CC (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase
CC (complex IV, CIV), that cooperate to transfer electrons derived from
CC NADH and succinate to molecular oxygen, creating an electrochemical
CC gradient over the inner membrane that drives transmembrane transport
CC and the ATP synthase. The cytochrome b-c1 complex catalyzes electron
CC transfer from ubiquinol to cytochrome c, linking this redox reaction to
CC translocation of protons across the mitochondrial inner membrane, with
CC protons being carried across the membrane as hydrogens on the quinol.
CC In the process called Q cycle, 2 protons are consumed from the matrix,
CC 4 protons are released into the intermembrane space and 2 electrons are
CC passed to cytochrome c. {ECO:0000250|UniProtKB:P08525}.
CC -!- SUBUNIT: Component of the ubiquinol-cytochrome c oxidoreductase
CC (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme
CC composed of 11 subunits. The complex is composed of 3 respiratory
CC subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core
CC protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular
CC weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8,
CC UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske
CC protein UQCRFS1 (By similarity). The complex exists as an obligatory
CC dimer and forms supercomplexes (SCs) in the inner mitochondrial
CC membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and
CC cytochrome c oxidase (complex IV, CIV), resulting in different
CC assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex
CC MCI(2)III(2)IV(2)) (PubMed:28844695). Interacts with BRAWNIN (By
CC similarity). {ECO:0000250|UniProtKB:P13271,
CC ECO:0000250|UniProtKB:Q9CQ69, ECO:0000269|PubMed:28844695}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:P08525}; Single-pass membrane protein
CC {ECO:0000250|UniProtKB:P08525}.
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 4 (MC3DN4)
CC [MIM:615159]: A disorder of the mitochondrial respiratory chain
CC resulting in a highly variable phenotype depending on which tissues are
CC affected. Clinical features include mitochondrial encephalopathy,
CC psychomotor retardation, ataxia, severe failure to thrive, liver
CC dysfunction, renal tubulopathy, muscle weakness and exercise
CC intolerance. {ECO:0000269|PubMed:18439546}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the UQCRQ/QCR8 family. {ECO:0000305}.
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DR EMBL; D50369; BAA23321.1; -; mRNA.
DR EMBL; BC001390; AAH01390.1; -; mRNA.
DR EMBL; BC090048; AAH90048.1; -; mRNA.
DR CCDS; CCDS34237.1; -.
DR RefSeq; NP_055217.2; NM_014402.4.
DR PDB; 5XTE; EM; 3.40 A; A/N=2-82.
DR PDB; 5XTH; EM; 3.90 A; AA/AN=2-82.
DR PDB; 5XTI; EM; 17.40 A; AA/AN=2-82.
DR PDBsum; 5XTE; -.
DR PDBsum; 5XTH; -.
DR PDBsum; 5XTI; -.
DR AlphaFoldDB; O14949; -.
DR SMR; O14949; -.
DR BioGRID; 117991; 158.
DR ComplexPortal; CPX-560; Mitochondrial respiratory chain complex III.
DR IntAct; O14949; 36.
DR MINT; O14949; -.
DR STRING; 9606.ENSP00000367939; -.
DR DrugBank; DB07763; (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE.
DR DrugBank; DB07778; (S)-famoxadone.
DR DrugBank; DB04141; 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol.
DR DrugBank; DB08453; 2-Nonyl-4-quinolinol 1-oxide.
DR DrugBank; DB04799; 6-Hydroxy-5-undecyl-4,7-benzothiazoledione.
DR DrugBank; DB07401; Azoxystrobin.
DR DrugBank; DB08330; METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE.
DR DrugBank; DB08690; Ubiquinone Q2.
DR GlyGen; O14949; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O14949; -.
DR PhosphoSitePlus; O14949; -.
DR SwissPalm; O14949; -.
DR BioMuta; UQCRQ; -.
DR EPD; O14949; -.
DR jPOST; O14949; -.
DR MassIVE; O14949; -.
DR MaxQB; O14949; -.
DR PaxDb; O14949; -.
DR PeptideAtlas; O14949; -.
DR PRIDE; O14949; -.
DR ProteomicsDB; 48332; -.
DR TopDownProteomics; O14949; -.
DR Antibodypedia; 45197; 130 antibodies from 27 providers.
DR DNASU; 27089; -.
DR Ensembl; ENST00000378665.1; ENSP00000367934.1; ENSG00000164405.11.
DR Ensembl; ENST00000378667.1; ENSP00000367936.1; ENSG00000164405.11.
DR Ensembl; ENST00000378670.8; ENSP00000367939.3; ENSG00000164405.11.
DR GeneID; 27089; -.
DR KEGG; hsa:27089; -.
DR MANE-Select; ENST00000378670.8; ENSP00000367939.3; NM_014402.5; NP_055217.2.
DR UCSC; uc003kya.2; human.
DR CTD; 27089; -.
DR DisGeNET; 27089; -.
DR GeneCards; UQCRQ; -.
DR HGNC; HGNC:29594; UQCRQ.
DR HPA; ENSG00000164405; Low tissue specificity.
DR MalaCards; UQCRQ; -.
DR MIM; 612080; gene.
DR MIM; 615159; phenotype.
DR neXtProt; NX_O14949; -.
DR OpenTargets; ENSG00000164405; -.
DR Orphanet; 1460; Isolated complex III deficiency.
DR PharmGKB; PA142670637; -.
DR VEuPathDB; HostDB:ENSG00000164405; -.
DR eggNOG; KOG4116; Eukaryota.
DR GeneTree; ENSGT00390000004029; -.
DR HOGENOM; CLU_156007_2_0_1; -.
DR InParanoid; O14949; -.
DR OMA; SWGTQEF; -.
DR OrthoDB; 1523793at2759; -.
DR PhylomeDB; O14949; -.
DR TreeFam; TF300281; -.
DR BioCyc; MetaCyc:HS09077-MON; -.
DR PathwayCommons; O14949; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR SignaLink; O14949; -.
DR SIGNOR; O14949; -.
DR BioGRID-ORCS; 27089; 350 hits in 1075 CRISPR screens.
DR ChiTaRS; UQCRQ; human.
DR GenomeRNAi; 27089; -.
DR Pharos; O14949; Tbio.
DR PRO; PR:O14949; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; O14949; protein.
DR Bgee; ENSG00000164405; Expressed in apex of heart and 209 other tissues.
DR Genevisible; O14949; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:ComplexPortal.
DR GO; GO:0005750; C:mitochondrial respiratory chain complex III; IPI:ComplexPortal.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0045333; P:cellular respiration; IC:ComplexPortal.
DR GO; GO:0021680; P:cerebellar Purkinje cell layer development; IEA:Ensembl.
DR GO; GO:0021766; P:hippocampus development; IEA:Ensembl.
DR GO; GO:0021854; P:hypothalamus development; IEA:Ensembl.
DR GO; GO:0030901; P:midbrain development; IEA:Ensembl.
DR GO; GO:0006122; P:mitochondrial electron transport, ubiquinol to cytochrome c; IBA:GO_Central.
DR GO; GO:0021548; P:pons development; IEA:Ensembl.
DR GO; GO:0021860; P:pyramidal neuron development; IEA:Ensembl.
DR GO; GO:0021539; P:subthalamus development; IEA:Ensembl.
DR GO; GO:0021794; P:thalamus development; IEA:Ensembl.
DR Gene3D; 1.20.5.210; -; 1.
DR InterPro; IPR004205; Cyt_bc1_su8.
DR InterPro; IPR036642; Cyt_bc1_su8_sf.
DR PANTHER; PTHR12119; PTHR12119; 1.
DR Pfam; PF02939; UcrQ; 1.
DR SUPFAM; SSF81508; SSF81508; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Direct protein sequencing; Disease variant;
KW Electron transport; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Phosphoprotein; Primary mitochondrial disease; Reference proteome;
KW Respiratory chain; Transmembrane; Transmembrane helix; Transport.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:8592474"
FT CHAIN 2..82
FT /note="Cytochrome b-c1 complex subunit 8"
FT /id="PRO_0000193544"
FT TOPO_DOM 2..39
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:28844695"
FT TRANSMEM 40..68
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:28844695"
FT TOPO_DOM 69..82
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:28844695"
FT MOD_RES 16
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 33
FT /note="N6-acetyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9CQ69"
FT MOD_RES 33
FT /note="N6-succinyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9CQ69"
FT VARIANT 45
FT /note="S -> F (in MC3DN4; dbSNP:rs11544803)"
FT /evidence="ECO:0000269|PubMed:18439546"
FT /id="VAR_045911"
FT CONFLICT 73..82
FT /note="KNPAAYENDK -> RIQLPMKMTNEQRIRMTVPCL (in Ref. 1;
FT BAA23321)"
FT /evidence="ECO:0000305"
FT HELIX 21..23
FT /evidence="ECO:0007829|PDB:5XTE"
FT HELIX 30..71
FT /evidence="ECO:0007829|PDB:5XTE"
FT HELIX 74..81
FT /evidence="ECO:0007829|PDB:5XTE"
SQ SEQUENCE 82 AA; 9906 MW; 5ED13ABDD2990DD2 CRC64;
MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV PQFVVFYLIY
TWGTEEFERS KRKNPAAYEN DK
