ENSMUSG00000028672


Mus musculus

Features
Gene ID: ENSMUSG00000028672
  
Biological name :Hmgcl
  
Synonyms : Hmgcl / Hydroxymethylglutaryl-CoA lyase, mitochondrial / P38060
  
Possible biological names infered from orthology : 3-hydroxymethyl-3-methylglutaryl-CoA lyase / P35914
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: D3
Gene start: 135946448
Gene end: 135962617
  
Corresponding Affymetrix probe sets: 10509137 (MoGene1.0st)   1424639_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000030432
NCBI entrez gene - 15356     See in Manteia.
MGI - MGI:96158
RefSeq - XM_017319984
RefSeq - NM_008254
RefSeq - XM_006538563
RefSeq - XM_006538564
RefSeq Peptide - NP_032280
swissprot - P38060
Ensembl - ENSMUSG00000028672
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmgclENSDARG00000021220Danio rerio
 HMGCLENSGALG00000004057Gallus gallus
 HMGCLENSG00000117305Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8JZS7 / Hmgcll1 / 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic / Q8TB92* / 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1*ENSMUSG0000000790865


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:0006629 lipid metabolic process IEA
 biological_processGO:0006637 acyl-CoA metabolic process IEA
 biological_processGO:0007005 mitochondrion organization IMP
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0046951 ketone body biosynthetic process IEA
 biological_processGO:0051262 protein tetramerization IEA
 biological_processGO:0070542 response to fatty acid IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005743 mitochondrial inner membrane IDA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005777 peroxisome ISO
 molecular_functionGO:0000062 fatty-acyl-CoA binding IEA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004419 hydroxymethylglutaryl-CoA lyase activity ISO
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0030145 manganese ion binding IEA
 molecular_functionGO:0031406 carboxylic acid binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding ISO


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Leprtm1.1Chua/Leprtm1.1Chua,Tg(Pomc1-cre)16Lowl/0
Genetic Background: involves: 129 * C57BL/6J * FVB

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Leprtm1.1Chua/Leprtm1.1Chua,Tg(Pomc1-cre)16Lowl/0
Genetic Background: involves: 129 * C57BL/6J * FVB

Allelic Composition: Hmgcltm1Gam/Hmgcl+
Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * CD-1)

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Leprtm1.1Chua/Leprtm1.1Chua,Tg(Pomc1-cre)16Lowl/0
Genetic Background: involves: 129 * C57BL/6J * FVB

 MP:0001711 abnormal placenta 
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Allelic Composition: Leprtm1.1Chua/Leprtm1.1Chua,Tg(Pomc1-cre)16Lowl/0
Genetic Background: involves: 129 * C57BL/6J * FVB

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tbx3tm3.2Moon/Tbx3tm3.2Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0003383 abnormal gluconeogenesis "anomaly in the formation of glucose from noncarbohydrates, such as proteins or fat" [J:93896]
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Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0003979 increased circulating carnitine level "greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0005309 increased circulating ammonia level "significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83263]
Show

Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0010080 abnormal hepatocyte physiology "any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmgcltm2Gam/Hmgcltm2Gam,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Leprtm1.1Chua/Leprtm1.1Chua,Tg(Pomc1-cre)16Lowl/0
Genetic Background: involves: 129 * C57BL/6J * FVB

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000028672 Hmgcl / P38060 / Hydroxymethylglutaryl-CoA lyase, mitochondrial / P35914* / 3-hydroxymethyl-3-methylglutaryl-CoA lyase*  / complex






 

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