ENSG00000156467


Homo sapiens
mitochondrialrespiratoryUQCRBcomplexchaincytochromeb-csubunitelectrontransportiiimembranesuperfamilyoxidativephosphorylationubiquinolcaerobicrespirationassemblyoxidation-reductionprocessmitochondrioninnerproteinbindingubiquinol-cytochrome-creductaseactivityautosomalrecessive

Features
Gene ID: ENSG00000156467
  
Biological name :UQCRB
  
Synonyms : P14927 / ubiquinol-cytochrome c reductase binding protein / UQCRB
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q22.1
Gene start: 96225920
Gene end: 96235634
  
Corresponding Affymetrix probe sets: 205849_s_at (Human Genome U133 Plus 2.0 Array)   209065_at (Human Genome U133 Plus 2.0 Array)   209066_x_at (Human Genome U133 Plus 2.0 Array)   244293_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000430560
Ensembl peptide - ENSP00000427862
Ensembl peptide - ENSP00000430672
Ensembl peptide - ENSP00000429787
Ensembl peptide - ENSP00000430494
Ensembl peptide - ENSP00000287022
NCBI entrez gene - 7381     See in Manteia.
OMIM - 191330
RefSeq - NM_001199975
RefSeq - NM_001254752
RefSeq - NM_006294
RefSeq Peptide - NP_001186904
RefSeq Peptide - NP_001241681
RefSeq Peptide - NP_006285
swissprot - P14927
swissprot - E5RHG9
swissprot - B7Z2R2
swissprot - E5RIT7
Ensembl - ENSG00000156467
  
Related genetic diseases (OMIM): 615158 - Mitochondrial complex III deficiency, nuclear type 3, 615158
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 uqcrbENSDARG00000011146Danio rerio
 UQCRBENSGALG00000029319Gallus gallus
 UqcrbENSMUSG00000021520Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003197  Cytochrome b-c1 complex subunit 7
 IPR036544  Cytochrome b-c1 complex subunit 7 superfamily


Gene Ontology (GO)
nitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processoxidation-reduction processcellular component organizationcellular component biogenesisnitrogen compoundnitrogen compound metabolic processcellular metabolicellular metabolic processprimary metabolicprimary metabolic processsmall molecule mesmall molecule metabolic processorganic substanceorganic substance metabolic processoxidation-reductioxidation-reduction processcellular componencellular component organizationcellular componencellular component biogenesis
protein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingoxidoreductase activityprotein bindingprotein bindingoxidoreductase activityoxidoreductase activity
cellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellcellorganelleorganellemembranemembraneprotein-containing complexprotein-containing complex
TypeGO IDTermEv.Code
 biological_processGO:0006119 oxidative phosphorylation TAS
 biological_processGO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c IEA
 biological_processGO:0009060 aerobic respiration TAS
 biological_processGO:0034551 mitochondrial respiratory chain complex III assembly IBA
 biological_processGO:0055114 oxidation-reduction process TAS
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane TAS
 cellular_componentGO:0005746 mitochondrial respiratory chain TAS
 cellular_componentGO:0005750 mitochondrial respiratory chain complex III IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0070469 respiratory chain IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008121 ubiquinol-cytochrome-c reductase activity IBA


Pathways (from Reactome)
Pathway description
Respiratory electron transport


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceMetabolism abnormalityAutosomal recessive inheritanceAutosomal recessive inheritanceMetabolism abnormalityMetabolism abnormality
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001942 Metabolic acidosis 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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