ENSG00000117305


Homo sapiens

Features
Gene ID: ENSG00000117305
  
Biological name :HMGCL
  
Synonyms : 3-hydroxymethyl-3-methylglutaryl-CoA lyase / HMGCL / P35914
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.11
Gene start: 23801885
Gene end: 23838620
  
Corresponding Affymetrix probe sets: 202772_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363611
Ensembl peptide - ENSP00000389281
Ensembl peptide - ENSP00000363614
Ensembl peptide - ENSP00000235958
NCBI entrez gene - 3155     See in Manteia.
OMIM - 613898
RefSeq - NM_000191
RefSeq - NM_001166059
RefSeq Peptide - NP_000182
RefSeq Peptide - NP_001159531
swissprot - P35914
swissprot - H0Y2L7
swissprot - D6REN8
Ensembl - ENSG00000117305
  
Related genetic diseases (OMIM): 246450 - HMG-CoA lyase deficiency, 246450
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
 hmgclENSDARG00000021220Danio rerio
 HMGCLENSGALG00000004057Gallus gallus
 HmgclENSMUSG00000028672Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8TB92 / HMGCLL1 / 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1ENSG0000014615166


Protein motifs (from Interpro)
Interpro ID Name
 IPR000138  Hydroxymethylglutaryl-CoA lyase, active site
 IPR000891  Pyruvate carboxyltransferase
 IPR013785  Aldolase-type TIM barrel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006552 leucine catabolic process NAS
 biological_processGO:0006629 lipid metabolic process IDA
 biological_processGO:0006637 acyl-CoA metabolic process IEA
 biological_processGO:0007005 mitochondrion organization IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0046951 ketone body biosynthetic process IDA
 biological_processGO:0051262 protein tetramerization IDA
 biological_processGO:0070542 response to fatty acid IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005777 peroxisome IEA
 molecular_functionGO:0000062 fatty-acyl-CoA binding IEA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004419 hydroxymethylglutaryl-CoA lyase activity IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0030145 manganese ion binding IDA
 molecular_functionGO:0031406 carboxylic acid binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Synthesis of Ketone Bodies
Peroxisomal protein import


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:0001259 Coma 
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 HP:0001262 Somnolence 
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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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 HP:0001945 Fever 
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 HP:0001987 Hyperammonemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0003150 Glutaric aciduria 
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 HP:0003234 Decreased plasma carnitine 
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 HP:0003344 3-Methylglutaric aciduria 
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 HP:0003819 Death in childhood 
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 HP:0410051 Increased level of 3-hydroxy-3-methylglutaric acid in urine 
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 HP:0410066 Increased level of hippuric acid in urine "An increase in the level of hippuric acid in the urine." [PMID:19551947, PMID:22626821]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000117305 HMGCL / P35914 / 3-hydroxymethyl-3-methylglutaryl-CoA lyase  / complex






 

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