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Hmgcl
Gene Detail
 Symbol
Name
ID
Hmgcl
3-hydroxy-3-methylglutaryl-Coenzyme A lyase
MGI:96158
Feature Type protein coding gene
Genetic Map
Chromosome 4
68.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr4:135946448-135962617 bp, + strand
From VEGA annotation of GRCm38

  16170 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:159  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: hydroxymethylglutaryl-CoA lyase
Gene Tree: Hmgcl

Human
homologs
Human Homolog HMGCL, 3-hydroxymethyl-3-methylglutaryl-CoA lyase
NCBI Gene ID 3155
neXtProt AC  NX_P35914
Human Synonyms  HL
Human Chr (Location)  1p36.1-p35; chr1:23801877-23825459 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human HMGCL
Alleles
and
phenotypes
All alleles(5) : Targeted(4) Gene trapped(1)
 
Mice homozygous for a knock-out allele die at midgestation exhibiting reduced embryo size, frequent cytoplasmic vacuolization in liver, heart and placenta, and marked focal hydropic swelling of mitochondria in hepatocytes.
 
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process acyl-CoA metabolic process, embryo development, ...
Component mitochondrial inner membrane, mitochondrion, ...
Function carboxylic acid binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (116)    Tissues (95)    Images (23)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 116
cDNA source data(175)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(179) Genomic(3) cDNA(175) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000009847 (Evidence)
Ensembl Gene ModelENSMUSG00000028672 (Evidence)
Entrez Gene15356 (Evidence)
UniGene482102
DFCITC1572337, TC1594490
DoTSDT.101394420, DT.110841493, DT.110841763, DT.525059, DT.536353, DT.87026508, DT.94345661, DT.97409371
NIA Mouse Gene IndexU004956
EC4.1.3.4
Consensus CDS ProjectCCDS18795.1
International Mouse Knockout Project StatusHmgcl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009847 VEGA Gene Model | MGI Sequence Detail 16170 C57BL/6J ±  kb
transcript OTTMUST00000022820 VEGA | MGI Sequence Detail 1418 Not Applicable 
polypeptide OTTMUSP00000010411 VEGA | MGI Sequence Detail 325 Not Applicable 

For the selected sequences
All sequences(57) RefSeq(6) UniProt(2)
Polymorphisms RFLP(2) : SNPs within 2kb(141 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013785 Aldolase-type TIM barrel
InterPro IPR027167 Hydroxymethylglutaryl-CoA lyase
InterPro IPR000138 Hydroxymethylglutaryl-CoA lyase, active site
InterPro IPR000891 Pyruvate carboxyltransferase
Protein Ontology PR:000008635 hydroxymethylglutaryl-CoA lyase, mitochondrial
References (Earliest) J:2915 Wang S, et al., HMG CoA Lyase (HL): Characterization of a mouse liver cDNA and chromosomal mapping in human and mouse. Am J Hum Genet. 1992;51(4):A204 (Abstr.)
(Latest) J:204294 Gauthier N, et al., A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. PLoS One. 2013;8(7):e60581
All references(42)
Other
accession IDs
MGD-MRK-10794, MGI:2140574

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory