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; chr1:24128367-24151949 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HMGCL

Alleles and phenotypes

All alleles(4) : Targeted(3) 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: (20 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 Type	Results
RNA in situ	116

cDNA source data(179)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(183) Genomic(3) cDNA(179) 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 Knockout Project Status	Hmgcl

Sequences

Length	Strain/Species
genomic	OTTMUSG00000009847	VEGA Gene Model | MGI Sequence Detail	16170	C57BL/6J
transcript	OTTMUST00000022820	VEGA | MGI Sequence Detail	1418	Not Applicable
polypeptide	OTTMUSP00000010411	VEGA | MGI Sequence Detail	325	Not Applicable

All sequences(53) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(2) : SNPs(86 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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: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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(41)

Other accession IDs

MGD-MRK-10794, MGI:2140574