ENSG00000156467


Homo sapiens

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)
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)
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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