Human Gene UQCRB (ENST00000518406.5) Description and Page Index
  Description: Homo sapiens ubiquinol-cytochrome c reductase binding protein (UQCRB), transcript variant 3, mRNA. (from RefSeq NM_001254752)
RefSeq Summary (NM_001254752): This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.235901.1, AA811742.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000518406.5
Gencode Gene: ENSG00000156467.9
Transcript (Including UTRs)
   Position: hg38 chr8:96,230,942-96,235,539 Size: 4,598 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr8:96,231,105-96,235,530 Size: 4,426 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:96,230,942-96,235,539)mRNA (may differ from genome)Protein (140 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: QCR7_HUMAN
DESCRIPTION: RecName: Full=Cytochrome b-c1 complex subunit 7; AltName: Full=Complex III subunit 7; AltName: Full=Complex III subunit VII; AltName: Full=QP-C; AltName: Full=Ubiquinol-cytochrome c reductase complex 14 kDa protein;
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: 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.
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.
SIMILARITY: Belongs to the UQCRB/QCR7 family.
CAUTION: Was originally thought to be the ubiquinone-binding protein (QP-C).
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UQCRB";

-  MalaCards Disease Associations
  MalaCards Gene Search: UQCRB
Diseases sorted by gene-association score: mitochondrial complex iii deficiency, nuclear type 3* (900), mitochondrial complex iii deficiency* (551), mitochondrial complex iii deficiency, nuclear type 1* (283), mitochondrial respiratory chain complex iii deficiency, uqcrb-related* (100)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 99.62 RPKM in Heart - Atrial Appendage
Total median expression: 1668.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -21.80163-0.134 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003197 - Cyt-d_ubiquinol_oxidase_14kDa

Pfam Domains:
PF02271 - Ubiquinol-cytochrome C reductase complex 14kD subunit

ModBase Predicted Comparative 3D Structure on P14927
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008121 ubiquinol-cytochrome-c reductase activity

Biological Process:
GO:0006119 oxidative phosphorylation
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c
GO:0009060 aerobic respiration
GO:0034551 mitochondrial respiratory chain complex III assembly
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respiratory chain
GO:0005750 mitochondrial respiratory chain complex III
GO:0016020 membrane
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  KJ892362 - Synthetic construct Homo sapiens clone ccsbBroadEn_01756 UQCRB gene, encodes complete protein.
AK307085 - Homo sapiens cDNA, FLJ97033.
BC005230 - Homo sapiens ubiquinol-cytochrome c reductase binding protein, mRNA (cDNA clone MGC:12253 IMAGE:3961169), complete cds.
AK295007 - Homo sapiens cDNA FLJ52271 complete cds, moderately similar to Ubiquinol-cytochrome c reductase complex 14 kDa protein (EC 1.10.2.2).
LF209834 - JP 2014500723-A/17337: Polycomb-Associated Non-Coding RNAs.
MA445411 - JP 2018138019-A/17337: Polycomb-Associated Non-Coding RNAs.
M22348 - Human mitochondrial ubiquinone-binding protein mRNA, complete cds.
X13585 - Human mRNA for mitochondrial ubiquinone-binding protein (QP-C).
BC041005 - Homo sapiens ubiquinol-cytochrome c reductase binding protein, mRNA (cDNA clone IMAGE:5276335), with apparent retained intron.
M26700 - Human mitochondrial ubiquinone-binding protein mRNA, complete cds.
LF331962 - JP 2014500723-A/139465: Polycomb-Associated Non-Coding RNAs.
MA567539 - JP 2018138019-A/139465: Polycomb-Associated Non-Coding RNAs.
CR542176 - Homo sapiens full open reading frame cDNA clone RZPDo834C1024D for gene UQCRB, ubiquinol-cytochrome c reductase binding protein; complete cds, incl. stopcodon.
AK311756 - Homo sapiens cDNA, FLJ92016, highly similar to Homo sapiens ubiquinol-cytochrome c reductase binding protein (UQCRB), mRNA.
CR542196 - Homo sapiens full open reading frame cDNA clone RZPDo834H0824D for gene UQCRB, ubiquinol-cytochrome c reductase binding protein; complete cds, without stopcodon.
LF331963 - JP 2014500723-A/139466: Polycomb-Associated Non-Coding RNAs.
MA567540 - JP 2018138019-A/139466: Polycomb-Associated Non-Coding RNAs.
LF331964 - JP 2014500723-A/139467: Polycomb-Associated Non-Coding RNAs.
MA567541 - JP 2018138019-A/139467: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04260 - Cardiac muscle contraction
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

Reactome (by CSHL, EBI, and GO)

Protein P14927 (Reactome details) participates in the following event(s):

R-HSA-164651 Electron transfer from ubiquinol to cytochrome c of complex III
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001254752, P14927, Q6FGD1, QCR7_HUMAN, uc022ayx.1, uc022ayx.2, UQBP
UCSC ID: uc022ayx.2
RefSeq Accession: NM_001254752
Protein: P14927 (aka QCR7_HUMAN)
CCDS: CCDS59107.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.