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CES4A carboxylesterase 4A [ Homo sapiens (human) ]

Gene ID: 283848, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66988589..67010417)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72782888..72804710)
105.20220307 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
  • 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. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article

See all (10) 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)
NP_001177130.1
NP_001177131.1
NP_001305435.1
NP_001351711.1
NP_776176.5
XP_011521323.1
XP_011521325.1
XP_011521327.1
XP_011521328.1
XP_011521329.1
XP_011521330.1
XP_011521331.1
XP_011521332.1
XP_016878649.1
XP_016878650.1
XP_016878652.1
XP_016878653.1
XP_016878654.1
XP_016878655.1
XP_024306003.1
XP_054236073.1
XP_054236074.1
XP_054236075.1
XP_054236076.1
XP_054236077.1
XP_054236078.1
XP_054236079.1
XP_054236080.1
XP_054236081.1
XP_054236082.1
XP_054236083.1
XP_054236084.1
XP_054236085.1
XP_054236086.1
XP_054236087.1

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_2023_10

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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