Details for: HMGCL

Gene ID: 3155

Symbol: HMGCL

Ensembl ID: ENSG00000117305

Description: 3-hydroxy-3-methylglutaryl-CoA lyase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 2.33
    Marker Score: 2278
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.62
    Marker Score: 703
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167998
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.37
    Marker Score: 4878
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.26
    Marker Score: 6029
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.16
    Marker Score: 40231
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.13
    Marker Score: 1874
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.12
    Marker Score: 745
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.11
    Marker Score: 613
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.11
    Marker Score: 890
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.11
    Marker Score: 7091
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.06
    Marker Score: 2524
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.05
    Marker Score: 3433
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.04
    Marker Score: 1528
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.03
    Marker Score: 4048
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.02
    Marker Score: 8821
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.01
    Marker Score: 3170
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71701
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47925
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.99
    Marker Score: 3663
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30391
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2398
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.94
    Marker Score: 2358
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 477
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5218
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.91
    Marker Score: 3942
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.91
    Marker Score: 943
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.9
    Marker Score: 956
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2703
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.89
    Marker Score: 209
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.88
    Marker Score: 439
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.88
    Marker Score: 2346
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.86
    Marker Score: 1960
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.86
    Marker Score: 1803
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.85
    Marker Score: 1505
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.85
    Marker Score: 914
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.84
    Marker Score: 13199.5
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.83
    Marker Score: 458
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.81
    Marker Score: 1323
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.81
    Marker Score: 3482
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.79
    Marker Score: 1611
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.78
    Marker Score: 752
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.78
    Marker Score: 1243
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.78
    Marker Score: 530
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.78
    Marker Score: 4183.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.77
    Marker Score: 771.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 308
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.77
    Marker Score: 520
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 585
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.76
    Marker Score: 4905
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.76
    Marker Score: 149
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.75
    Marker Score: 6521
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.75
    Marker Score: 278
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.74
    Marker Score: 210
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.73
    Marker Score: 1668
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.73
    Marker Score: 15558
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 465
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.73
    Marker Score: 304
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3021.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.72
    Marker Score: 764
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.71
    Marker Score: 671
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.71
    Marker Score: 719
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.71
    Marker Score: 1134
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.7
    Marker Score: 178
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.7
    Marker Score: 7017
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.7
    Marker Score: 2852
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.69
    Marker Score: 1310
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.68
    Marker Score: 465
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.67
    Marker Score: 213
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.67
    Marker Score: 2808
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 612
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.67
    Marker Score: 1824
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.66
    Marker Score: 1130
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.66
    Marker Score: 2276
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.66
    Marker Score: 274
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.66
    Marker Score: 268
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.66
    Marker Score: 929
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.66
    Marker Score: 162
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.64
    Marker Score: 207
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.64
    Marker Score: 429
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.64
    Marker Score: 1162
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.64
    Marker Score: 6560
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.63
    Marker Score: 183
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.63
    Marker Score: 237
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.63
    Marker Score: 300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.63
    Marker Score: 1330
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.63
    Marker Score: 562
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.63
    Marker Score: 1033
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.63
    Marker Score: 366
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.63
    Marker Score: 287
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.63
    Marker Score: 964
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.62
    Marker Score: 672
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 411
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.62
    Marker Score: 953

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Other Information

**Key characteristics** * HMGCL is a member of the hydroxymethylglutaryl-CoA lyase family of enzymes. * It is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is found in multiple tissues, including the pancreas, kidney, liver, and adipose tissue. * It is a key enzyme in the regulation of ketone body metabolism. **Pathways and functions** * HMGCL is involved in the production of ketone bodies, which are molecules that are produced when the body breaks down fat and protein. * It is also involved in the regulation of lipid metabolism. * It helps to maintain the energy balance of the body by regulating the flux of acetyl-CoA between the citric acid cycle and the bloodstream. * It is involved in the regulation of mitochondrial function and apoptosis. **Clinical significance** Mutations in the HMGCL gene have been linked to several diseases, including diabetes, obesity, and liver disease. These diseases are characterized by abnormalities in ketone body metabolism, which can lead to hyperglycemia and other health problems. **Additional notes** * HMGCL is a highly regulated protein that is controlled by various factors, including hormones, nutrients, and cellular signals. * It is a key enzyme in the regulation of human health, and its dysfunction can lead to a range of diseases. * Research into HMGCL is ongoing, with the aim of developing new therapies for diseases that are associated with the protein.

Genular Protein ID: 1532637345

Symbol: HMGCL_HUMAN

Name: Hydroxymethylglutaryl-CoA lyase, mitochondrial

UniProtKB Accession Codes:

P35914 B4DUP4 B7UCC6 D3Y5K7 Q6IBC0 Q96FP8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 12 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 4 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8440722

Title: 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.

PubMed ID: 8440722

DOI: 10.1016/s0021-9258(18)53620-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8617516

Title: 3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

PubMed ID: 8617516

DOI: 10.1006/geno.1996.0164

PubMed ID: 21952825

Title: Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

PubMed ID: 21952825

DOI: 10.1007/s11033-011-1270-8

PubMed ID: 7527399

Title: 3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.

PubMed ID: 7527399

DOI: 10.1016/s0021-9258(18)31784-8

PubMed ID: 8566388

Title: Ketogenic flux from lipids and leucine, assessment in 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

PubMed ID: 8566388

DOI: 10.1042/bst023489s

PubMed ID: 12464283

Title: Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase.

PubMed ID: 12464283

DOI: 10.1016/s0003-9861(02)00584-2

PubMed ID: 12874287

Title: Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.

PubMed ID: 12874287

DOI: 10.1074/jbc.m304472200

PubMed ID: 15122894

Title: Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.

PubMed ID: 15122894

DOI: 10.1021/bi0499765

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22865860

Title: Identification and characterization of an extramitochondrial human 3-Hydroxy-3-methylglutaryl-CoA lyase.

PubMed ID: 22865860

DOI: 10.1074/jbc.m112.393231

PubMed ID: 22847177

Title: Characterization of a novel HMG-CoA Lyase enzyme with a dual location in endoplasmic reticulum and cytosol.

PubMed ID: 22847177

DOI: 10.1194/jlr.m025700

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 16330550

Title: Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.

PubMed ID: 16330550

DOI: 10.1074/jbc.m506880200

PubMed ID: 8798725

Title: Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine-233 as an active site residue.

PubMed ID: 8798725

DOI: 10.1074/jbc.271.40.24604

PubMed ID: 9463337

Title: HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

PubMed ID: 9463337

DOI: 10.1086/301730

PubMed ID: 9784232

Title: Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.

PubMed ID: 9784232

DOI: 10.1006/abbi.1998.0788

PubMed ID: 11129331

Title: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

PubMed ID: 11129331

DOI: 10.1007/s004390000363

PubMed ID: 12746442

Title: Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.

PubMed ID: 12746442

DOI: 10.1074/jbc.m304276200

PubMed ID: 17173698

Title: Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

PubMed ID: 17173698

DOI: 10.1186/1471-2350-7-86

PubMed ID: 16601870

Title: A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

PubMed ID: 16601870

DOI: 10.1007/s10545-006-0138-x

PubMed ID: 17459752

Title: C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.

PubMed ID: 17459752

DOI: 10.1016/j.ymgme.2007.03.007

PubMed ID: 19036343

Title: Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

PubMed ID: 19036343

DOI: 10.1016/j.cca.2008.11.004

PubMed ID: 19177531

Title: Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

PubMed ID: 19177531

DOI: 10.1002/humu.20966

Sequence Information:

  • Length: 325
  • Mass: 34360
  • Checksum: B82B2488A10D6980
  • Sequence:
    • MAAMRKALPR RLVGLASLRA VSTSSMGTLP KRVKIVEVGP RDGLQNEKNI VSTPVKIKLI 
DMLSEAGLSV IETTSFVSPK WVPQMGDHTE VLKGIQKFPG INYPVLTPNL KGFEAAVAAG 
AKEVVIFGAA SELFTKKNIN CSIEESFQRF DAILKAAQSA NISVRGYVSC ALGCPYEGKI 
SPAKVAEVTK KFYSMGCYEI SLGDTIGVGT PGIMKDMLSA VMQEVPLAAL AVHCHDTYGQ 
ALANTLMALQ MGVSVVDSSV AGLGGCPYAQ GASGNLATED LVYMLEGLGI HTGVNLQKLL 
EAGNFICQAL NRKTSSKVAQ ATCKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.