Details for: HMGCS1

Gene ID: 3157

Symbol: HMGCS1

Ensembl ID: ENSG00000112972

Description: 3-hydroxy-3-methylglutaryl-CoA synthase 1

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: hepatoblast (CL0005026)
    Fold Change: 8.76
    Marker Score: 28713
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 6.74
    Marker Score: 119620
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.02
    Marker Score: 2839.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.01
    Marker Score: 4076.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.99
    Marker Score: 2144
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.94
    Marker Score: 12619
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.88
    Marker Score: 14674
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.87
    Marker Score: 3013
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.87
    Marker Score: 546
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.81
    Marker Score: 15572
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.79
    Marker Score: 1885
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.73
    Marker Score: 11068
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.7
    Marker Score: 2510
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.68
    Marker Score: 9966
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.68
    Marker Score: 5262.5
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.63
    Marker Score: 6312.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.61
    Marker Score: 1773
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.6
    Marker Score: 1936.5
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.56
    Marker Score: 1103
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.56
    Marker Score: 910
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.52
    Marker Score: 1435
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.51
    Marker Score: 632
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.49
    Marker Score: 7799
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.46
    Marker Score: 3323
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.46
    Marker Score: 5953
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167228
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.43
    Marker Score: 14779
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.42
    Marker Score: 825
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.4
    Marker Score: 1490
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.4
    Marker Score: 6721
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.34
    Marker Score: 1157
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.32
    Marker Score: 361
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.29
    Marker Score: 1284
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.28
    Marker Score: 1349
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.26
    Marker Score: 2007
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.25
    Marker Score: 76773
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.22
    Marker Score: 42275
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.22
    Marker Score: 602
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.21
    Marker Score: 1111
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.21
    Marker Score: 1860
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.2
    Marker Score: 17940
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.2
    Marker Score: 395
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.19
    Marker Score: 452
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.19
    Marker Score: 19098
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.18
    Marker Score: 986.5
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.18
    Marker Score: 39785
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.18
    Marker Score: 4357
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.16
    Marker Score: 9995
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.16
    Marker Score: 42821
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.15
    Marker Score: 770
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.15
    Marker Score: 286
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.15
    Marker Score: 1105
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.15
    Marker Score: 401
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.15
    Marker Score: 11563
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.14
    Marker Score: 4926
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.14
    Marker Score: 1466
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.13
    Marker Score: 4744
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.12
    Marker Score: 387
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.11
    Marker Score: 218
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.11
    Marker Score: 42173
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.11
    Marker Score: 2646
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.09
    Marker Score: 458
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.09
    Marker Score: 10209
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 1.08
    Marker Score: 676
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.07
    Marker Score: 2022.5
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.06
    Marker Score: 4100
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.06
    Marker Score: 2211
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.05
    Marker Score: 1869
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.05
    Marker Score: 512
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.05
    Marker Score: 302
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.04
    Marker Score: 1895
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.03
    Marker Score: 350
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.03
    Marker Score: 1281
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.03
    Marker Score: 3966
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.02
    Marker Score: 6517
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.01
    Marker Score: 238
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.01
    Marker Score: 1697
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.01
    Marker Score: 4186
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.01
    Marker Score: 5407
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1
    Marker Score: 385
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71642
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47867
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.99
    Marker Score: 674
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30379
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.98
    Marker Score: 329
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.97
    Marker Score: 665
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.97
    Marker Score: 392
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.97
    Marker Score: 19329
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.97
    Marker Score: 1086
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.97
    Marker Score: 32844
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.96
    Marker Score: 562
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.96
    Marker Score: 6152
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.95
    Marker Score: 2584
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.94
    Marker Score: 1166
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2389
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.93
    Marker Score: 14591
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.93
    Marker Score: 8843
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.93
    Marker Score: 2207
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.92
    Marker Score: 4277
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 476

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Other Information

**Key characteristics:** * It is a protein of the cytochrome P450 family. * It is expressed in a variety of cell types, including hepatocytes, adrenal gland cells, and epithelial cells. * It is a key regulator of cholesterol biosynthesis and the metabolism of lipids. **Pathways and functions:** * **Acetyl-CoA metabolic process:** HMGCS1 is responsible for the formation of acetyl-CoA, a key intermediate in the citric acid cycle. * **Activation of gene expression by srebp (srebp):** HMGCS1 is a target of srebp (scap-related endothelial factor), a transcription factor that is involved in the regulation of gene expression. * **Regulation of cholesterol biosynthesis:** HMGCS1 is a key enzyme in cholesterol biosynthesis, catalyzing the condensation of acetyl-CoA and malate to form 3-hydroxy-3-methylglutaryl-CoA (HMG CoA). * **Regulation of lipid metabolism:** HMGCS1 also plays a role in the metabolism of lipids, participating in the synthesis of choline and the degradation of fatty acids. **Clinical significance:** * Mutations in HMGCS1 have been linked to several human diseases, including hypercholesterolemia, a condition characterized by high cholesterol levels. * HMGCS1 inhibitors are being investigated as potential therapeutic agents for hypercholesterolemia and other disorders related to cholesterol metabolism. **Additional notes:** * HMGCS1 is a highly conserved protein with homologs in other species. * It is a substrate for the enzyme 3-hydroxy-3-methylglutaryl-CoA dehydrogenase (HMGCD). * It is a key regulator of cholesterol homeostasis and is involved in maintaining normal lipid levels in the body.

Genular Protein ID: 3797227000

Symbol: HMCS1_HUMAN

Name: 3-hydroxy-3-methylglutaryl coenzyme A synthase

UniProtKB Accession Codes:

Q01581 B2RDL8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 11 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 6 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PIR 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 8 Rhea 2 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1358203

Title: Amplification and direct sequencing of a cDNA encoding human cytosolic 3-hydroxy-3-methylglutaryl-coenzyme A synthase.

PubMed ID: 1358203

DOI: 10.1016/0167-4781(92)90172-v

PubMed ID: 7913309

Title: Human cytoplasmic 3-hydroxy-3-methylglutaryl coenzyme A synthase: expression, purification, and characterization of recombinant wild-type and Cys129 mutant enzymes.

PubMed ID: 7913309

DOI: 10.1006/abbi.1994.1273

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

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: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

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: 20346956

Title: Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.

PubMed ID: 20346956

DOI: 10.1016/j.jmb.2010.03.034

Sequence Information:

  • Length: 520
  • Mass: 57294
  • Checksum: C669212BF86CFF9B
  • Sequence:
    • MPGSLPLNAE ACWPKDVGIV ALEIYFPSQY VDQAELEKYD GVDAGKYTIG LGQAKMGFCT 
DREDINSLCM TVVQNLMERN NLSYDCIGRL EVGTETIIDK SKSVKTNLMQ LFEESGNTDI 
EGIDTTNACY GGTAAVFNAV NWIESSSWDG RYALVVAGDI AVYATGNARP TGGVGAVALL 
IGPNAPLIFE RGLRGTHMQH AYDFYKPDML SEYPIVDGKL SIQCYLSALD RCYSVYCKKI 
HAQWQKEGND KDFTLNDFGF MIFHSPYCKL VQKSLARMLL NDFLNDQNRD KNSIYSGLEA 
FGDVKLEDTY FDRDVEKAFM KASSELFSQK TKASLLVSNQ NGNMYTSSVY GSLASVLAQY 
SPQQLAGKRI GVFSYGSGLA ATLYSLKVTQ DATPGSALDK ITASLCDLKS RLDSRTGVAP 
DVFAENMKLR EDTHHLVNYI PQGSIDSLFE GTWYLVRVDE KHRRTYARRP TPNDDTLDEG 
VGLVHSNIAT EHIPSPAKKV PRLPATAAEP EAAVISNGEH

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.