ENSG00000204922


Homo sapiens

Features
Gene ID: ENSG00000204922
  
Biological name :UQCC3
  
Synonyms : Q6UW78 / ubiquinol-cytochrome c reductase complex assembly factor 3 / UQCC3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q12.3
Gene start: 62670273
Gene end: 62673687
  
Corresponding Affymetrix probe sets: 229099_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000432692
Ensembl peptide - ENSP00000367189
NCBI entrez gene - 790955     See in Manteia.
OMIM - 616097
RefSeq - NM_001085372
RefSeq Peptide - NP_001078841
swissprot - Q6UW78
Ensembl - ENSG00000204922
  
Related genetic diseases (OMIM): 616111 - ?Mitochondrial complex III deficiency, nuclear type 9, 616111
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
 Uqcc3ENSMUSG00000071654Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR027896  Ubiquinol-cytochrome-c reductase complex assembly factor 3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c IMP
 biological_processGO:0006754 ATP biosynthetic process IEA
 biological_processGO:0034551 mitochondrial respiratory chain complex III assembly IMP
 biological_processGO:0042407 cristae formation IMP
 biological_processGO:0097033 obsolete mitochondrial respiratory chain complex III biogenesis IMP
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005750 mitochondrial respiratory chain complex III IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031305 integral component of mitochondrial inner membrane IDA
 molecular_functionGO:0070300 phosphatidic acid binding IDA
 molecular_functionGO:1901612 cardiolipin binding IDA


Pathways (from Reactome)
Pathway description
No match


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:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001510 Growth retardation 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0003577 Onset at birth 
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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