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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 293.7409
    Cell Significance Index: -45.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 178.5972
    Cell Significance Index: -45.3000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.4037
    Cell Significance Index: -47.8800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 94.1768
    Cell Significance Index: -38.2600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 40.1260
    Cell Significance Index: -38.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.7872
    Cell Significance Index: -46.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.5354
    Cell Significance Index: -46.9800
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 15.7364
    Cell Significance Index: 20.3600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.8650
    Cell Significance Index: -46.8200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.2346
    Cell Significance Index: -31.4400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 8.5691
    Cell Significance Index: 229.6100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.0274
    Cell Significance Index: -15.3800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.3310
    Cell Significance Index: 41.3200
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 2.5872
    Cell Significance Index: 26.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.4594
    Cell Significance Index: 488.0700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.3369
    Cell Significance Index: 21.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.0199
    Cell Significance Index: 104.9300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.0029
    Cell Significance Index: 105.1600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.9351
    Cell Significance Index: 87.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.7195
    Cell Significance Index: 96.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.3402
    Cell Significance Index: 29.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2540
    Cell Significance Index: 251.5500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9921
    Cell Significance Index: 28.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9590
    Cell Significance Index: 172.8900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8387
    Cell Significance Index: 23.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8280
    Cell Significance Index: 452.2000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8043
    Cell Significance Index: 21.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.7951
    Cell Significance Index: 37.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7563
    Cell Significance Index: 20.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7463
    Cell Significance Index: 91.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7345
    Cell Significance Index: 663.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5920
    Cell Significance Index: 36.3900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5742
    Cell Significance Index: 205.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5622
    Cell Significance Index: 248.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4915
    Cell Significance Index: 63.5000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4671
    Cell Significance Index: 34.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4559
    Cell Significance Index: 32.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.3727
    Cell Significance Index: 236.7300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2947
    Cell Significance Index: 8.4100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2868
    Cell Significance Index: 198.3400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2834
    Cell Significance Index: 53.9300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2806
    Cell Significance Index: 9.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2487
    Cell Significance Index: 31.8800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.1816
    Cell Significance Index: 1.4000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1237
    Cell Significance Index: 2.5900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1212
    Cell Significance Index: 16.6500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1116
    Cell Significance Index: 84.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1089
    Cell Significance Index: 18.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1077
    Cell Significance Index: 5.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1024
    Cell Significance Index: 192.7300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0882
    Cell Significance Index: 2.5900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0819
    Cell Significance Index: 13.3300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0444
    Cell Significance Index: 68.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0300
    Cell Significance Index: 55.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0231
    Cell Significance Index: 31.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0022
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0087
    Cell Significance Index: -6.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0166
    Cell Significance Index: -10.3800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0319
    Cell Significance Index: -23.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0333
    Cell Significance Index: -15.1100
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0382
    Cell Significance Index: -0.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0577
    Cell Significance Index: -32.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0862
    Cell Significance Index: -12.5400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0922
    Cell Significance Index: -6.2000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1062
    Cell Significance Index: -10.5100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1113
    Cell Significance Index: -11.3700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1275
    Cell Significance Index: -26.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1280
    Cell Significance Index: -36.8400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1373
    Cell Significance Index: -16.1900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.1375
    Cell Significance Index: -0.3100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1943
    Cell Significance Index: -4.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1947
    Cell Significance Index: -5.5800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1962
    Cell Significance Index: -22.4000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1973
    Cell Significance Index: -2.4600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2006
    Cell Significance Index: -12.9400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2015
    Cell Significance Index: -15.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2020
    Cell Significance Index: -23.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2573
    Cell Significance Index: -3.5100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2712
    Cell Significance Index: -31.6000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2829
    Cell Significance Index: -17.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.3898
    Cell Significance Index: -42.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4060
    Cell Significance Index: -42.2700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4714
    Cell Significance Index: -5.9500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4766
    Cell Significance Index: -11.4300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4774
    Cell Significance Index: -7.9900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.4910
    Cell Significance Index: -6.9900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4925
    Cell Significance Index: -8.4400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4984
    Cell Significance Index: -8.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5041
    Cell Significance Index: -39.9300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5099
    Cell Significance Index: -7.6400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5767
    Cell Significance Index: -30.0400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6352
    Cell Significance Index: -28.1000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6552
    Cell Significance Index: -40.1700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7140
    Cell Significance Index: -21.0300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7732
    Cell Significance Index: -29.2800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.7969
    Cell Significance Index: -9.5000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.8283
    Cell Significance Index: -12.2300
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: -0.8318
    Cell Significance Index: -3.1900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8415
    Cell Significance Index: -27.5500
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.8476
    Cell Significance Index: -5.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic Activity:** HMGCS1 is a cytosolic enzyme that exhibits homodimerization activity, allowing it to interact with other proteins and regulate metabolic pathways. 2. **Substrate Specificity:** The enzyme exhibits specificity for acetyl-CoA and acetoacetyl-CoA, converting them into 3-hydroxy-3-methylglutaryl-CoA. 3. **Regulatory Mechanisms:** HMGCS1 is regulated by various transcription factors, including SREBP (sterol regulatory element-binding protein) and PPARα (peroxisome proliferator-activated receptor alpha), which modulate its expression and activity. 4. **Cellular Localization:** The enzyme is predominantly found in the cytosol of various cell types, including hepatoblasts, adrenal gland cells, and epithelial cells. **Pathways and Functions:** 1. **Acetyl-CoA Metabolic Process:** HMGCS1 is involved in the conversion of acetyl-CoA to 3-hydroxy-3-methylglutaryl-CoA, a critical step in the acetyl-CoA metabolic process. 2. **Cholesterol Biosynthesis:** The enzyme plays a key role in the mevalonate pathway, which ultimately leads to the production of cholesterol and other sterols. 3. **Lipid Metabolic Process:** HMGCS1 is involved in the regulation of lipid metabolism, including fatty acid synthesis and degradation. 4. **Steroidogenesis:** The enzyme is also involved in the production of steroid hormones, including cortisol and aldosterone. **Clinical Significance:** 1. **Metabolic Disorders:** Alterations in HMGCS1 expression and activity have been implicated in various metabolic disorders, including obesity, insulin resistance, and dyslipidemia. 2. **Cancer:** The enzyme has been shown to be overexpressed in certain types of cancer, including hepatocellular carcinoma and breast cancer. 3. **Neurological Disorders:** HMGCS1 has been implicated in the pathogenesis of neurological disorders, including Alzheimer's disease and Parkinson's disease. 4. **Pharmacological Applications:** The enzyme has been targeted for the development of novel therapeutic agents, including statins and fibrates, which modulate cholesterol and lipid metabolism. In conclusion, HMGCS1 is a crucial enzyme that plays a pivotal role in regulating various metabolic pathways, including cholesterol biosynthesis, lipid metabolism, and steroidogenesis. Its dysregulation has been implicated in various metabolic disorders, cancer, and neurological disorders, highlighting the importance of this enzyme in human health and disease.

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 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRO 1 PROSITE 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 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.