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    CES1 carboxylesterase 1 [ Homo sapiens (human) ]

    Gene ID: 1066, updated on 22-Apr-2017
    Official Symbol
    CES1provided by HGNC
    Official Full Name
    carboxylesterase 1provided by HGNC
    Primary source
    HGNC:HGNC:1863
    See related
    Ensembl:ENSG00000198848 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:
    16q12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 LOC107984815

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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
     
    sterol esterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol ester hydrolysis involved in cholesterol transport TAS
    Traceable Author Statement
    more info
    PubMed 
    epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    medium-chain fatty acid metabolic process 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
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    liver carboxylesterase 1
    Names
    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
      ENSP00000355193.4, OTTHUMP00000254860, ENST00000361503.8, OTTHUMT00000433285
      Conserved Domains (2) summary
      COG0657
      Location:121239
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:24547
      COesterase; Carboxylesterase family
    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
      ENSP00000353720.3, OTTHUMP00000254857, ENST00000360526.7, OTTHUMT00000433282
      Conserved Domains (2) summary
      COG0657
      Location:122240
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:25548
      COesterase; Carboxylesterase family
    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
      ENSP00000390492.2, OTTHUMP00000254858, ENST00000422046.6, OTTHUMT00000433283
      Conserved Domains (2) summary
      COG0657
      Location:121239
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:24546
      COesterase; Carboxylesterase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005255774.1XP_005255831.1  liver carboxylesterase 1 isoform X1

      Conserved Domains (2) summary
      COG0657
      Location:122240
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:25547
      COesterase; Carboxylesterase family

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003315945.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      26724..57068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

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