• Gene id: 1066

Gene Summary

• Gene Symbol: CES1   Gene   UCSC   Ensembl
• Aliases: ACAT, CE-1, CEH, CES2, HMSE, HMSE1, PCE-1, REH, SES1, TGH, hCE-1
• Gene name: carboxylesterase 1
• Alternate names: liver carboxylesterase 1, acyl coenzyme A:cholesterol acyltransferase, brain carboxylesterase hBr1, carboxylesterase 1 (monocyte/macrophage serine esterase 1), carboxylesterase 2 (liver), cholesteryl ester hydrolase, cocaine carboxylesterase, egasyn, human monocy,
• Gene location: 16q12.2 (55833126: 55802850)     Exons: 14     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bon
• OMIM: 114835

SNPs

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

Protein Summary

• Protein general information: P23141  
  • Name: Liver carboxylesterase 1 (Acyl coenzyme A:cholesterol acyltransferase) (ACAT) (Brain carboxylesterase hBr1) (Carboxylesterase 1) (CE 1) (hCE 1) (EC 3.1.1.1) (Cocaine carboxylesterase) (Egasyn) (HMSE) (Methylumbelliferyl acetate deacetylase 1) (EC 3.1.1.56
  • Length: 567  
  • Mass: 62521
  • Tissue specificity: Expressed predominantly in liver with lower levels in heart and lung. {ECO
• Sequence:

  MWLRAFILATLSASAAWGHPSSPPVVDTVHGKVLGKFVSLEGFAQPVAIFLGIPFAKPPLGPLRFTPPQPAEPWS
  FVKNATSYPPMCTQDPKAGQLLSELFTNRKENIPLKLSEDCLYLNIYTPADLTKKNRLPVMVWIHGGGLMVGAAS
  TYDGLALAAHENVVVVTIQYRLGIWGFFSTGDEHSRGNWGHLDQVAALRWVQDNIASFGGNPGSVTIFGESAGGE
  SVSVLVLSPLAKNLFHRAISESGVALTSVLVKKGDVKPLAEQIAITAGCKTTTSAVMVHCLRQKTEEELLETTLK
  MKFLSLDLQGDPRESQPLLGTVIDGMLLLKTPEELQAERNFHTVPYMVGINKQEFGWLIPMQLMSYPLSEGQLDQ
  KTAMSLLWKSYPLVCIAKELIPEATEKYLGGTDDTVKKKDLFLDLIADVMFGVPSVIVARNHRDAGAPTYMYEFQ
  YRPSFSSDMKPKTVIGDHGDELFSVFGAPFLKEGASEEEIRLSKMVMKFWANFARNGNPNGEGLPHWPEYNQKEG
  YLQIGANTQAAQKLKDKEVAFWTNLFAKKAVEKPPQTEHIEL

• Structural information:
  • Interpro: IPR029058  IPR002018  IPR019826  IPR019819  
  • Prosite: PS00122 PS00941
  • PDB: 1MX1 1MX5 1MX9 1YA4 1YA8 1YAH 1YAJ 2DQY 2DQZ 2DR0 2H7C 2HRQ 2HRR 3K9B 4AB1 5A7F 5A7G 5A7H
  • PDBsum: 1MX1 1MX5 1MX9 1YA4 1YA8 1YAH 1YAJ 2DQY 2DQZ 2DR0 2H7C 2HRQ 2HRR 3K9B 4AB1 5A7F 5A7G 5A7H
  • STRING: ENSP00000353720
• Other Databases: GeneCards:  CES1  Malacards:  CES1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0052689	carboxylic ester hydrolase activity	IDA	molecular function
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0043691	reverse cholesterol transport	IMP	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0071404	cellular response to low-density lipoprotein particle stimulus	IMP	biological process
GO:0010887	negative regulation of cholesterol storage	IMP	biological process
GO:0071397	cellular response to cholesterol	IMP	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0004771	sterol esterase activity	IBA	molecular function
GO:0052689	carboxylic ester hydrolase activity	IBA	molecular function
GO:0016042	lipid catabolic process	IBA	biological process
GO:0004806	triglyceride lipase activity	IBA	molecular function
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0005811	lipid droplet	IDA	cellular component
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0008203	cholesterol metabolic process	IDA	biological process
GO:0090205	positive regulation of cholesterol metabolic process	IMP	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0043691	reverse cholesterol transport	IMP	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0010887	negative regulation of cholesterol storage	IMP	biological process
GO:0070857	regulation of bile acid biosynthetic process	IMP	biological process
GO:0010887	negative regulation of cholesterol storage	IMP	biological process
GO:0120188	regulation of bile acid secretion	IMP	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0052689	carboxylic ester hydrolase activity	TAS	molecular function
GO:0009636	response to toxic substance	TAS	biological process
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0080030	methyl indole-3-acetate esterase activity	IEA	molecular function
GO:0047374	methylumbelliferyl-acetate deacetylase activity	IEA	molecular function
GO:0002003	angiotensin maturation	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0051791	medium-chain fatty acid metabolic process	IDA	biological process
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0090122	cholesterol ester hydrolysis involved in cholesterol transport	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030855	epithelial cell differentiation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00983	Drug metabolism - other enzymes

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq