Format

Send to:

Choose Destination

CES5A carboxylesterase 5A [ Homo sapiens (human) ]

Gene ID: 221223, updated on 18-May-2019

Summary

Official Symbol
CES5Aprovided by HGNC
Official Full Name
carboxylesterase 5Aprovided by HGNC
Primary source
HGNC:HGNC:26459
See related
Ensembl:ENSG00000159398
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

Genomic context

See CES5A in Genome Data Viewer
Location:
16q12.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (55846154..55956031, complement)
105 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 carboxylesterase 1 pseudogene 1 Neighboring gene carboxylesterase 1 Neighboring gene uncharacterized LOC107984815 Neighboring gene uncharacterized LOC105371281

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • FLJ31547

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxylic ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methyl indole-3-acetate esterase activity IEA
Inferred from Electronic Annotation
more info
 
sterol esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lipid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001143685.2NP_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
    Q6NT32
    Related
    ENSP00000290567.9, ENST00000290567.13
    Conserved Domains (2) summary
    COG0657
    Location:126229
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:27539
    COesterase; Carboxylesterase family
  2. NM_001190158.1NP_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/Swiss-Prot
    Q6NT32
    Related
    ENSP00000428864.1, ENST00000521992.5
    Conserved Domains (2) summary
    COG0657
    Location:155258
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:56568
    COesterase; Carboxylesterase family
  3. NM_145024.2NP_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/Swiss-Prot
    Q6NT32
    UniProtKB/TrEMBL
    V9HWK3
    Related
    ENSP00000324271.9, ENST00000319165.13
    Conserved Domains (2) summary
    COG0657
    Location:126229
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:27489
    COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    55846154..55956031 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003315945.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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