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HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase)

Identity

Alias_names3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
Alias_symbol (synonym)HL
Other alias
HGNC (Hugo) HMGCL
LocusID (NCBI) 3155
Atlas_Id 64347
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 24128367 and ends at 24151949 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HMGCL (1p36.11) / HMGCL (1p36.11)HMGCL (1p36.11) / VPS37B (12q24.31)POLE (12q24.33) / HMGCL (1p36.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HMGCL   5005
Cards
Entrez_Gene (NCBI)HMGCL  3155  3-hydroxymethyl-3-methylglutaryl-CoA lyase
AliasesHL
GeneCards (Weizmann)HMGCL
Ensembl hg19 (Hinxton)ENSG00000117305 [Gene_View]  chr1:24128367-24151949 [Contig_View]  HMGCL [Vega]
Ensembl hg38 (Hinxton)ENSG00000117305 [Gene_View]  chr1:24128367-24151949 [Contig_View]  HMGCL [Vega]
ICGC DataPortalENSG00000117305
TCGA cBioPortalHMGCL
AceView (NCBI)HMGCL
Genatlas (Paris)HMGCL
WikiGenes3155
SOURCE (Princeton)HMGCL
Genetics Home Reference (NIH)HMGCL
Genomic and cartography
GoldenPath hg19 (UCSC)HMGCL  -     chr1:24128367-24151949 -  1p36.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HMGCL  -     1p36.11   [Description]    (hg38-Dec_2013)
EnsemblHMGCL - 1p36.11 [CytoView hg19]  HMGCL - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBIHMGCL [Mapview hg19]  HMGCL [Mapview hg38]
OMIM246450   613898   
Gene and transcription
Genbank (Entrez)AI202943 AK122801 AK300733 AK309129 AK313869
RefSeq transcript (Entrez)NM_000191 NM_001166059
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_013061 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)HMGCL
Cluster EST : UnigeneHs.533444 [ NCBI ]
CGAP (NCI)Hs.533444
Alternative Splicing GalleryENSG00000117305
Gene ExpressionHMGCL [ NCBI-GEO ]   HMGCL [ EBI - ARRAY_EXPRESS ]   HMGCL [ SEEK ]   HMGCL [ MEM ]
Gene Expression Viewer (FireBrowse)HMGCL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3155
GTEX Portal (Tissue expression)HMGCL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35914   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35914  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35914
Splice isoforms : SwissVarP35914
Catalytic activity : Enzyme4.1.3.4 [ Enzyme-Expasy ]   4.1.3.44.1.3.4 [ IntEnz-EBI ]   4.1.3.4 [ BRENDA ]   4.1.3.4 [ KEGG ]   
PhosPhoSitePlusP35914
Domaine pattern : Prosite (Expaxy)HMG_COA_LYASE (PS01062)    PYR_CT (PS50991)   
Domains : Interpro (EBI)Aldolase_TIM    HL    HMG_CoA_lyase_AS    PYR_CT   
Domain families : Pfam (Sanger)HMGL-like (PF00682)   
Domain families : Pfam (NCBI)pfam00682   
Conserved Domain (NCBI)HMGCL
DMDM Disease mutations3155
Blocks (Seattle)HMGCL
PDB (SRS)2CW6    3MP3    3MP4    3MP5   
PDB (PDBSum)2CW6    3MP3    3MP4    3MP5   
PDB (IMB)2CW6    3MP3    3MP4    3MP5   
PDB (RSDB)2CW6    3MP3    3MP4    3MP5   
Structural Biology KnowledgeBase2CW6    3MP3    3MP4    3MP5   
SCOP (Structural Classification of Proteins)2CW6    3MP3    3MP4    3MP5   
CATH (Classification of proteins structures)2CW6    3MP3    3MP4    3MP5   
SuperfamilyP35914
Human Protein AtlasENSG00000117305
Peptide AtlasP35914
HPRD02003
IPIIPI00293564   IPI01011849   IPI01013953   IPI00965794   IPI00908707   IPI00966379   
Protein Interaction databases
DIP (DOE-UCLA)P35914
IntAct (EBI)P35914
FunCoupENSG00000117305
BioGRIDHMGCL
STRING (EMBL)HMGCL
ZODIACHMGCL
Ontologies - Pathways
QuickGOP35914
Ontology : AmiGOfatty-acyl-CoA binding  magnesium ion binding  liver development  hydroxymethylglutaryl-CoA lyase activity  hydroxymethylglutaryl-CoA lyase activity  receptor binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial matrix  peroxisome  leucine catabolic process  acyl-CoA metabolic process  mitochondrion organization  response to nutrient  manganese ion binding  carboxylic acid binding  response to starvation  protein homodimerization activity  cellular lipid metabolic process  small molecule metabolic process  metal ion binding  cellular ketone body metabolic process  ketone body biosynthetic process  ketone body biosynthetic process  protein tetramerization  response to fatty acid  
Ontology : EGO-EBIfatty-acyl-CoA binding  magnesium ion binding  liver development  hydroxymethylglutaryl-CoA lyase activity  hydroxymethylglutaryl-CoA lyase activity  receptor binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial matrix  peroxisome  leucine catabolic process  acyl-CoA metabolic process  mitochondrion organization  response to nutrient  manganese ion binding  carboxylic acid binding  response to starvation  protein homodimerization activity  cellular lipid metabolic process  small molecule metabolic process  metal ion binding  cellular ketone body metabolic process  ketone body biosynthetic process  ketone body biosynthetic process  protein tetramerization  response to fatty acid  
Pathways : KEGGSynthesis and degradation of ketone bodies    Valine, leucine and isoleucine degradation    Butanoate metabolism    Peroxisome   
NDEx NetworkHMGCL
Atlas of Cancer Signalling NetworkHMGCL
Wikipedia pathwaysHMGCL
Orthology - Evolution
OrthoDB3155
GeneTree (enSembl)ENSG00000117305
Phylogenetic Trees/Animal Genes : TreeFamHMGCL
HOVERGENP35914
HOGENOMP35914
Homologs : HomoloGeneHMGCL
Homology/Alignments : Family Browser (UCSC)HMGCL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMGCL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMGCL
dbVarHMGCL
ClinVarHMGCL
1000_GenomesHMGCL 
Exome Variant ServerHMGCL
ExAC (Exome Aggregation Consortium)HMGCL (select the gene name)
Genetic variants : HAPMAP3155
Genomic Variants (DGV)HMGCL [DGVbeta]
DECIPHER (Syndromes)1:24128367-24151949  ENSG00000117305
CONAN: Copy Number AnalysisHMGCL 
Mutations
ICGC Data PortalHMGCL 
TCGA Data PortalHMGCL 
Broad Tumor PortalHMGCL
OASIS PortalHMGCL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMGCL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMGCL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HMGCL
DgiDB (Drug Gene Interaction Database)HMGCL
DoCM (Curated mutations)HMGCL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMGCL (select a term)
intoGenHMGCL
Cancer3DHMGCL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM246450    613898   
Orphanet3296   
MedgenHMGCL
Genetic Testing Registry HMGCL
NextProtP35914 [Medical]
TSGene3155
GENETestsHMGCL
Huge Navigator HMGCL [HugePedia]
snp3D : Map Gene to Disease3155
BioCentury BCIQHMGCL
ClinGenHMGCL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3155
Chemical/Pharm GKB GenePA29336
Clinical trialHMGCL
Miscellaneous
canSAR (ICR)HMGCL (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMGCL
EVEXHMGCL
GoPubMedHMGCL
iHOPHMGCL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:07:58 CET 2017

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