ENSG00000124370


Homo sapiens

Features
Gene ID: ENSG00000124370
  
Biological name :MCEE
  
Synonyms : MCEE / methylmalonyl-CoA epimerase / Q96PE7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p13.3
Gene start: 71109684
Gene end: 71130239
  
Corresponding Affymetrix probe sets: 226238_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000244217
Ensembl peptide - ENSP00000391140
Ensembl peptide - ENSP00000437361
Ensembl peptide - ENSP00000441569
NCBI entrez gene - 84693     See in Manteia.
OMIM - 608419
RefSeq - XM_005264613
RefSeq - NM_032601
RefSeq Peptide - NP_115990
swissprot - F5GZ54
swissprot - Q96PE7
swissprot - H7BZS7
Ensembl - ENSG00000124370
  
Related genetic diseases (OMIM): 251120 - Methylmalonyl-CoA epimerase deficiency, 251120
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
 mceeENSDARG00000045428Danio rerio
 MCEEENSGALG00000003913Gallus gallus
 MceeENSMUSG00000033429Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR004360  Glyoxalase/fosfomycin resistance/dioxygenase domain
 IPR017515  Methylmalonyl-CoA epimerase
 IPR029068  Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase
 IPR037523  Vicinal oxygen chelate (VOC) domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0019626 short-chain fatty acid catabolic process TAS
 biological_processGO:0046491 L-methylmalonyl-CoA metabolic process IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0004493 methylmalonyl-CoA epimerase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Propionyl-CoA catabolism


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:0001508 Failure to thrive 
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 HP:0001942 Metabolic acidosis 
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 HP:0001944 Dehydration 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002912 Methylmalonic acidemia 
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 HP:0002919 Ketonuria 
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 HP:0012120 Methylmalonic aciduria "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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