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    CES4A carboxylesterase 4A [ Homo sapiens (human) ]

    Gene ID: 283848, updated on 30-Oct-2024

    Summary

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    Official Symbol
    CES4Aprovided by HGNC
    Official Full Name
    carboxylesterase 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:26741
    See related
    Ensembl:ENSG00000172824 AllianceGenome:HGNC:26741
    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
    CES6; CES8
    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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]
    Expression
    Broad expression in skin (RPKM 14.9), brain (RPKM 5.0) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CES4A in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66988589..67010417)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72782888..72804710)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67022492..67044320)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7573 Neighboring gene MPRA-validated peak2620 silencer Neighboring gene MPRA-validated peak2621 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66994865-66995366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66997641-66998558 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:67004920-67006119 Neighboring gene Sharpr-MPRA regulatory region 4953 Neighboring gene carboxylesterase 3 Neighboring gene Sharpr-MPRA regulatory region 2980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67034909-67035810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67047193-67047694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67047695-67048194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7575 Neighboring gene RNA, 7SL, cytoplasmic 543, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7578 Neighboring gene core-binding factor subunit beta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genomic structure and transcriptional regulation of the rat, mouse, and human carboxylesterase genes. Hosokawa M, et al. Drug Metab Rev, 2007. PMID 17364878
    2. A new class of mammalian carboxylesterase CES6. Holmes RS, et al. Comp Biochem Physiol Part D Genomics Proteomics, 2009 Sep. PMID 20161041, Free PMC Article
    3. Mammalian carboxylesterase 3: comparative genomics and proteomics. Holmes RS, et al. Genetica, 2010 Jul. PMID 20422440, Free PMC Article
    4. Recommended nomenclature for five mammalian carboxylesterase gene families: human, mouse, and rat genes and proteins. Holmes RS, et al. Mamm Genome, 2010 Oct. PMID 20931200, Free PMC Article
    5. Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response. Lou LQ, et al. J Mol Med (Berl), 2023 Mar. PMID 36629882

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37002, FLJ37464

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxylic ester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    carboxylesterase 4A
    Names
    carboxylesterase 6
    carboxylesterase 8 (putative)

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001190201.2 → NP_001177130.1  carboxylesterase 4A isoform 3

      See identical proteins and their annotated locations for NP_001177130.1

      Status: REVIEWED

      Source sequence(s)
      AC009084, AK300792, BC029039, DC306014
      Consensus CDS
      CCDS54024.1
      UniProtKB/TrEMBL
      Q6P2E5
      Related
      ENSP00000441907.1, ENST00000540579.6
      Conserved Domains (2) summary
      COG0657
      Location:23 → 126
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:14 → 448
      COesterase; Carboxylesterase family

    2. NM_001190202.2 → NP_001177131.1  carboxylesterase 4A isoform 4

      See identical proteins and their annotated locations for NP_001177131.1

      Status: REVIEWED

      Source sequence(s)
      AC009084, AK295483, BC064573, DC306014
      Consensus CDS
      CCDS54025.1
      UniProtKB/Swiss-Prot
      Q5XG92
      UniProtKB/TrEMBL
      Q6P2E5
      Related
      ENSP00000441644.1, ENST00000535696.1
      Conserved Domains (2) summary
      COG0657
      Location:23 → 130
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      cl21494
      Location:14 → 345
      Abhydrolase; alpha/beta hydrolases

    3. NM_001318506.2 → NP_001305435.1  carboxylesterase 4A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC009084, AK094783, AK293061, CD369737, DC306014
      UniProtKB/TrEMBL
      Q6P2E5
      Conserved Domains (1) summary
      cl21494
      Location:2 → 352
      Abhydrolase; alpha/beta hydrolases

    4. NM_001364782.1 → NP_001351711.1  carboxylesterase 4A isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009084
      Consensus CDS
      CCDS92173.1
      UniProtKB/Swiss-Prot
      A8KAJ6, B7Z349, B7Z3L2, B7Z6R3, Q5XG92, Q6UX55, Q8N9F4
      UniProtKB/TrEMBL
      A0A0C4DGH1
      Related
      ENSP00000497868.2, ENST00000648724.3
      Conserved Domains (1) summary
      pfam00135
      Location:27 → 546
      COesterase; Carboxylesterase family

    5. NM_173815.7 → NP_776176.5  carboxylesterase 4A isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009084, AK295483, AK296064, CD369737, DC339496
      Consensus CDS
      CCDS42174.3
      UniProtKB/Swiss-Prot
      Q5XG92
      Related
      ENSP00000444052.2, ENST00000540947.6
      Conserved Domains (2) summary
      COG0657
      Location:121 → 224
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:23 → 439
      COesterase; Carboxylesterase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      66988589..67010417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523021.3 → XP_011521323.1  carboxylesterase 4A isoform X1

      Conserved Domains (2) summary
      COG0657
      Location:184 → 291
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 613
      COesterase; Carboxylesterase family

    2. XM_011523027.3 → XP_011521329.1  carboxylesterase 4A isoform X6

      Conserved Domains (2) summary
      COG0657
      Location:184 → 291
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 570
      COesterase; Carboxylesterase family

    3. XM_011523029.3 → XP_011521331.1  carboxylesterase 4A isoform X11

      Conserved Domains (2) summary
      COG0657
      Location:184 → 291
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 506
      COesterase; Carboxylesterase family

    4. XM_011523025.3 → XP_011521327.1  carboxylesterase 4A isoform X3

      Conserved Domains (2) summary
      COG0657
      Location:184 → 291
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 586
      COesterase; Carboxylesterase family

    5. XM_017023163.2 → XP_016878652.1  carboxylesterase 4A isoform X9

      UniProtKB/TrEMBL
      A0A0C4DGH1

    6. XM_017023166.2 → XP_016878655.1  carboxylesterase 4A isoform X14

    7. XM_011523023.3 → XP_011521325.1  carboxylesterase 4A isoform X2

      Conserved Domains (2) summary
      COG0657
      Location:184 → 287
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 609
      COesterase; Carboxylesterase family

    8. XM_017023161.2 → XP_016878650.1  carboxylesterase 4A isoform X7

    9. XM_017023165.2 → XP_016878654.1  carboxylesterase 4A isoform X12

    10. XM_017023160.2 → XP_016878649.1  carboxylesterase 4A isoform X4

    11. XM_017023164.2 → XP_016878653.1  carboxylesterase 4A isoform X10

      UniProtKB/TrEMBL
      A0A0C4DGH1

    12. XM_011523026.3 → XP_011521328.1  carboxylesterase 4A isoform X5

      Conserved Domains (2) summary
      COG0657
      Location:144 → 251
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 573
      COesterase; Carboxylesterase family

    13. XM_011523030.3 → XP_011521332.1  carboxylesterase 4A isoform X13

      UniProtKB/TrEMBL
      A0A0C4DGH1
      Related
      ENSP00000441103.1, ENST00000538199.5
      Conserved Domains (2) summary
      COG0657
      Location:144 → 247
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:46 → 499
      COesterase; Carboxylesterase family

    14. XM_011523028.3 → XP_011521330.1  carboxylesterase 4A isoform X8

      Conserved Domains (2) summary
      COG0657
      Location:132 → 239
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:34 → 561
      COesterase; Carboxylesterase family

    15. XM_024450235.2 → XP_024306003.1  carboxylesterase 4A isoform X15

      Conserved Domains (1) summary
      cl21494
      Location:8 → 314
      Abhydrolase; alpha/beta hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      72782888..72804710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380098.1 → XP_054236073.1  carboxylesterase 4A isoform X1

    2. XM_054380103.1 → XP_054236078.1  carboxylesterase 4A isoform X6

    3. XM_054380108.1 → XP_054236083.1  carboxylesterase 4A isoform X11

    4. XM_054380100.1 → XP_054236075.1  carboxylesterase 4A isoform X3

    5. XM_054380106.1 → XP_054236081.1  carboxylesterase 4A isoform X9

    6. XM_054380111.1 → XP_054236086.1  carboxylesterase 4A isoform X14

    7. XM_054380099.1 → XP_054236074.1  carboxylesterase 4A isoform X2

    8. XM_054380104.1 → XP_054236079.1  carboxylesterase 4A isoform X7

    9. XM_054380109.1 → XP_054236084.1  carboxylesterase 4A isoform X12

    10. XM_054380101.1 → XP_054236076.1  carboxylesterase 4A isoform X4

    11. XM_054380107.1 → XP_054236082.1  carboxylesterase 4A isoform X10

    12. XM_054380102.1 → XP_054236077.1  carboxylesterase 4A isoform X5

    13. XM_054380110.1 → XP_054236085.1  carboxylesterase 4A isoform X13

    14. XM_054380105.1 → XP_054236080.1  carboxylesterase 4A isoform X8

    15. XM_054380112.1 → XP_054236087.1  carboxylesterase 4A isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XG92.2 GenPept UniProtKB/Swiss-Prot:Q5XG92

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