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    CES5A carboxylesterase 5A [ Homo sapiens (human) ]

    Gene ID: 221223, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CES5Aprovided by HGNC
    Official Full Name
    carboxylesterase 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:26459
    See related
    Ensembl:ENSG00000159398 MIM:618678; AllianceGenome:HGNC:26459
    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
    CES5; CES7; CAUXIN; CES4C1; HEL126
    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 CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Biased expression in liver (RPKM 1.9), gall bladder (RPKM 0.7) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CES5A in Genome Data Viewer
    Location:
    16q12.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (55846154..55956031, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (61641137..61751051, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55880066..55989943, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:55813055-55814254 Neighboring gene carboxylesterase 1 pseudogene 1 Neighboring gene carboxylesterase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr16:55972010-55972511 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43479 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43482 Neighboring gene uncharacterized LOC124903694 Neighboring gene MPRA-validated peak2606 silencer Neighboring gene uncharacterized LOC107984815

    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. Mammalian carboxylesterase 5: comparative biochemistry and genomics. Holmes RS, et al. Comp Biochem Physiol Part D Genomics Proteomics, 2008 Sep. PMID 19727319, Free PMC Article
    2. Molecular cloning and characterization of a novel carboxylesterase-like protein that is physiologically present at high concentrations in the urine of domestic cats (Felis catus). Miyazaki M, et al. Biochem J, 2003 Feb 15. PMID 12401131, Free PMC Article
    3. 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
    4. Mammalian carboxylesterase 3: comparative genomics and proteomics. Holmes RS, et al. Genetica, 2010 Jul. PMID 20422440, Free PMC Article
    5. 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

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31547

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxylesterase 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 5A
    Names
    carboxylesterase 5
    carboxylesterase 7
    carboxylesterase-like urinary excreted protein homolog
    epididymis luminal protein 126
    NP_001137157.1
    NP_001177087.1
    NP_659461.1

    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_001143685.2 → NP_001137157.1  carboxylesterase 5A isoform 1 precursor

      See identical proteins and their annotated locations for NP_001137157.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate 5' sequence, as compared to variant 3. The resulting isoform (1) is shorter and has a different N-terminus, as compared to isoform 3.
      Source sequence(s)
      AC147362, AY907669, BC039073, BC069548, BC117126, DA698987
      Consensus CDS
      CCDS45490.1
      UniProtKB/Swiss-Prot
      B7Z252, B7ZLB6, Q6NT32, Q8NBC8, Q96DN9
      UniProtKB/TrEMBL
      A0A140TA61
      Related
      ENSP00000290567.9, ENST00000290567.14
      Conserved Domains (2) summary
      COG0657
      Location:126 → 229
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:27 → 539
      COesterase; Carboxylesterase family

    2. NM_001190158.1 → NP_001177087.1  carboxylesterase 5A isoform 3 precursor

      See identical proteins and their annotated locations for NP_001177087.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC007335, AC147362, AK294334
      Consensus CDS
      CCDS54012.1
      UniProtKB/TrEMBL
      A0A140TA75
      Related
      ENSP00000428864.1, ENST00000521992.5
      Conserved Domains (2) summary
      COG0657
      Location:155 → 258
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:56 → 568
      COesterase; Carboxylesterase family

    3. NM_145024.3 → NP_659461.1  carboxylesterase 5A isoform 2 precursor

      See identical proteins and their annotated locations for NP_659461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' sequence, and omits an in-frame exon in the 3' CDS, as compared to variant 3. The resulting isoform (2) is shorter; has a different N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      AC147362, AK056109, BC039073
      Consensus CDS
      CCDS10755.1
      UniProtKB/TrEMBL
      A0A140TA78, V9HWK3
      Related
      ENSP00000324271.9, ENST00000319165.13
      Conserved Domains (2) summary
      COG0657
      Location:126 → 229
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:27 → 489
      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
      55846154..55956031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315945.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      70051..179945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      61641137..61751051 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NT32.1 GenPept UniProtKB/Swiss-Prot:Q6NT32

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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