Carboxylesterase 1

Alternative Names

  • CES1
  • Serine Esterase 1
  • SES1
  • Carboxylesterase, Liver
  • Triacylglycerol Hydrolase
  • TGH
  • Carboxylesterase 2
  • CES2
  • Cholesterol Ester Hydrolase, Neutral, Macrophage-Derived
  • CEH
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OMIM Number

114835

NCBI Gene ID

1066

Uniprot ID

P23141

Length

30,277 bases

No. of Exons

14

No. of isoforms

3

Protein Name

Liver carboxylesterase 1

Molecular Mass

62521 Da

Amino Acid Count

567

Genomic Location

chr16:55,802,850-55,833,126

Gene Map Locus
16q12.2

Description

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 bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001025195.2:c.431G>AUnited Arab EmiratesNC_000016.10:g.55823658C>TDrug ResponseNG_012057.1:g.14506G>A; NM_001025195.2:c.431G>A; NP_001020366.1:p.Gly144Glu71647871226014
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