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CES1 carboxylesterase 1 [ Homo sapiens (human) ]

Gene ID: 1066, updated on 26-May-2016
Official Symbol
CES1provided by HGNC
Official Full Name
carboxylesterase 1provided by HGNC
Primary source
HGNC:HGNC:1863
See related
Ensembl:ENSG00000198848 HPRD:00268; MIM:114835; Vega:OTTHUMG00000176718
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEH; REH; TGH; ACAT; CE-1; CES2; HMSE; SES1; HMSE1; PCE-1; hCE-1
Summary
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. [provided by RefSeq, Jun 2010]
Orthologs
Location:
16q22.2
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (55802851..55833186, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55836763..55867098, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carboxylesterase 1 pseudogene 2 Neighboring gene carboxylesterase 1 pseudogene 1 Neighboring gene carboxylesterase 5A Neighboring gene uncharacterized LOC102725116 Neighboring gene uncharacterized LOC283856

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic determinants of dabigatran plasma levels and their relation to bleeding.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC117365

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxylic ester hydrolase activity TAS
Traceable Author Statement
more info
 
methylumbelliferyl-acetate deacetylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
metabolic process TAS
Traceable Author Statement
more info
PubMed 
response to toxic substance TAS
Traceable Author Statement
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
liver carboxylesterase 1
Names
acyl coenzyme A:cholesterol acyltransferase
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 monocyte/macrophage serine esterase 1
methylumbelliferyl-acetate deacetylase 1
monocyte/macrophage serine esterase
retinyl ester hydrolase
serine esterase 1
triacylglycerol hydrolase
NP_001020365.1
NP_001020366.1
NP_001257.4

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012057.1 RefSeqGene

    Range
    5001..35313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025194.1NP_001020365.1  liver carboxylesterase 1 isoform b precursor

    See identical proteins and their annotated locations for NP_001020365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different in-frame splice site at the end of a coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter by 1 aa compared to isoform a.
    Source sequence(s)
    AB119995, AU139632, BC012418
    Consensus CDS
    CCDS45488.1
    UniProtKB/Swiss-Prot
    P23141
    Related
    ENSP00000355193, OTTHUMP00000254860, ENST00000361503, OTTHUMT00000433285
    Conserved Domains (2) summary
    COG0657
    Location:121239
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    cd00312
    Location:25538
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. NM_001025195.1NP_001020366.1  liver carboxylesterase 1 isoform a precursor

    See identical proteins and their annotated locations for NP_001020366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AU139632, BC012418, CB137639, L07764
    Consensus CDS
    CCDS32450.1
    UniProtKB/Swiss-Prot
    P23141
    Related
    ENSP00000353720, OTTHUMP00000254857, ENST00000360526, OTTHUMT00000433282
    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    cd00312
    Location:26539
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  3. NM_001266.4NP_001257.4  liver carboxylesterase 1 isoform c precursor

    See identical proteins and their annotated locations for NP_001257.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses a different in-frame splice site at the end of two separate exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter by 2 aa compared to isoform a.
    Source sequence(s)
    AU139632, BC012418, L07765
    Consensus CDS
    CCDS45489.1
    UniProtKB/Swiss-Prot
    P23141
    Related
    ENSP00000390492, OTTHUMP00000254858, ENST00000422046, OTTHUMT00000433283
    Conserved Domains (2) summary
    COG0657
    Location:121239
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    cd00312
    Location:25537
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    55802851..55833186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255774.1XP_005255831.1  

    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    cd00312
    Location:26538
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. XM_011522816.1XP_011521118.1  

    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:25363
    COesterase; Carboxylesterase family

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NW_003315945.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    26724..57135 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005276867.1XP_005276924.1  

    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    cd00312
    Location:26538
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. XM_011546995.1XP_011545297.1  

    Conserved Domains (2) summary
    COG0657
    Location:122240
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:25363
    COesterase; Carboxylesterase family

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    57243691..57273987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)