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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: HMGCL
Protein SuperFamily: hydroxymethylglutaryl-CoA lyase
Gene Tree: Hmgcl

Human
homologs
HMGCL, 3-hydroxymethyl-3-methylglutaryl-CoA lyase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 3155
neXtProt AC: NX_P35914

Human Synonyms: HL

Human Chr (Location): 1p36.1-p35; chr1:23801877-23825459 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HMGCL

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(5)
Genomic Mutations involving Hmgcl (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Interactions
Hmgcl interacts with 93 markers (Mir1b, Mir15b, Mir22, ...)
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 116
cDNA source data(175)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100494904 ; ZFIN hmgcl    NEW 
Molecular
reagents
All nucleic(179) Genomic(3) cDNA(175) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000009847 (Evidence)
Ensembl Gene Model ENSMUSG00000028672 (Evidence)
Entrez Gene 15356 (Evidence)
UniGene 482102
DFCI TC1572337, TC1594490
DoTS DT.101394420, DT.110841493, DT.110841763, DT.525059, DT.536353, DT.87026508, DT.94345661, DT.97409371
NIA Mouse Gene Index U004956
EC 4.1.3.4
Consensus CDS Project CCDS18795.1
International Mouse Phenotyping Consortium Status Hmgcl
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(58) 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 IPR000138 Hydroxymethylglutaryl-CoA lyase, active site
InterPro IPR000891 Pyruvate carboxyltransferase
Protein Ontology PR:000008635 hydroxymethylglutaryl-CoA lyase, mitochondrial
References
(Earliest) J:12926 Wang S, et al., 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. Mamm Genome. 1993;4(7):382-7
(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(39)
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
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory