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 syst... See more...

Aliases for CES5A Gene

Aliases for CES5A Gene

  • Carboxylesterase 5A 2 3 4 5
  • Carboxylesterase-Like Urinary Excreted Protein Homolog 3 4
  • Carboxylesterase 7 2 3
  • CES7 3 4
  • Epididymis Luminal Protein 126 3
  • Carboxylesterase 5 3
  • EC 3.1.1.1 4
  • CAUXIN 3
  • CES4C1 3
  • HEL126 3
  • Cauxin 4
  • CES5 3

External Ids for CES5A Gene

Previous HGNC Symbols for CES5A Gene

  • CES7

Summaries for CES5A Gene

Entrez Gene Summary for CES5A Gene

  • 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]

GeneCards Summary for CES5A Gene

CES5A (Carboxylesterase 5A) is a Protein Coding gene. Diseases associated with CES5A include Cataract 1, Multiple Types and Lysosomal Acid Lipase Deficiency. Among its related pathways are Phase I biotransformations, non P450 and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot Summary for CES5A Gene

  • Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs.

Additional gene information for CES5A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CES5A Gene

Genomics for CES5A Gene

GeneHancer (GH) Regulatory Elements for CES5A Gene

Promoters and enhancers for CES5A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J055956 Enhancer 0.4 Ensembl 500.7 +0.3 330 0.2 ZIC2 ZNF623 NR2F2 RXRA SP1 CES5A HSALNG0111662
GH16J056326 Enhancer 0.9 Ensembl ENCODE dbSUPER 9.3 -368.5 -368543 1.1 ZIC2 SMARCC1 FOS SMARCB1 DPF2 ESR1 SMARCE1 ZBTB33 SCRT2 CES5A ENSG00000279764 NONHSAG019522.2 GNAO1
GH16J055983 Enhancer 0.7 Ensembl 10.5 -26.5 -26470 0.6 HNRNPK RUNX1 CTBP1 POLR2H NFE2 FOXA1 ZNF589 MAFG SMARCE1 ZNF175 CES5A piR-55028-002
GH16J056318 Enhancer 0.4 dbSUPER 9.9 -363.6 -363601 1.4 GATA1 CTCF MNT EZH2 CES5A ENSG00000279764 NONHSAG019522.2 GNAO1
GH16J056299 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 3 -343.7 -343740 1.5 MXI1 RBM25 ESR1 BCOR ZNF768 ZMYM3 MNT ENSG00000260198 ENSG00000287866 GNAO1 MT3 BBS2 CES5A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CES5A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CES5A

Genomic Locations for CES5A Gene

Genomic Locations for CES5A Gene
chr16:55,846,154-55,956,031
(GRCh38/hg38)
Size:
109,878 bases
Orientation:
Minus strand
chr16:55,880,066-55,989,943
(GRCh37/hg19)
Size:
109,878 bases
Orientation:
Minus strand

Genomic View for CES5A Gene

Genes around CES5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CES5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CES5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CES5A Gene

Proteins for CES5A Gene

  • Protein details for CES5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NT32-EST5A_HUMAN
    Recommended name:
    Carboxylesterase 5A
    Protein Accession:
    Q6NT32
    Secondary Accessions:
    • B7Z252
    • B7ZLB6
    • Q8NBC8
    • Q96DN9

    Protein attributes for CES5A Gene

    Size:
    575 amino acids
    Molecular mass:
    63926 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CES5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CES5A Gene

Post-translational modifications for CES5A Gene

No data available for DME Specific Peptides for CES5A Gene

Domains & Families for CES5A Gene

Gene Families for CES5A Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CES5A Gene

Suggested Antigen Peptide Sequences for CES5A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55966, highly similar to Homo sapiens carboxylesterase 7 (CES7), mRNA (B7Z252_HUMAN)
  • Carboxylesterase-like urinary excreted protein homolog (EST5A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NT32

UniProtKB/Swiss-Prot:

EST5A_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with CES5A: view

Function for CES5A Gene

Molecular function for CES5A Gene

UniProtKB/Swiss-Prot Function:
Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a carboxylic ester + H2O = a carboxylate + an alcohol + H(+); Xref=Rhea:RHEA:21164, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29067, ChEBI:CHEBI:30879, ChEBI:CHEBI:33308; EC=3.1.1.1; Evidence=. ;.

Enzyme Numbers (IUBMB) for CES5A Gene

Phenotypes From GWAS Catalog for CES5A Gene

Gene Ontology (GO) - Molecular Function for CES5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity IBA 21873635
GO:0004806 triglyceride lipase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IBA 21873635
GO:0080030 methyl indole-3-acetate esterase activity IEA --
genes like me logo Genes that share ontologies with CES5A: view
genes like me logo Genes that share phenotypes with CES5A: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CES5A Gene

Localization for CES5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CES5A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CES5A gene
Compartment Confidence
extracellular 4
plasma membrane 3
endoplasmic reticulum 3
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CES5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with CES5A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CES5A Gene

Pathways & Interactions for CES5A Gene

genes like me logo Genes that share pathways with CES5A: view

Pathways by source for CES5A Gene

Interacting Proteins for CES5A Gene

;

Gene Ontology (GO) - Biological Process for CES5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016042 lipid catabolic process IBA 21873635
genes like me logo Genes that share ontologies with CES5A: view

No data available for SIGNOR curated interactions for CES5A Gene

Drugs & Compounds for CES5A Gene

(12) Drugs for CES5A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Benzoic acid Approved, Investigational Pharma 11
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Isopropyl alcohol Approved, Investigational Pharma 0
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Propyl alcohol Approved, Experimental Pharma 0

(7) Additional Compounds for CES5A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
genes like me logo Genes that share compounds with CES5A: view

Transcripts for CES5A Gene

mRNA/cDNA for CES5A Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CES5A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - - -
SP3: -
SP4: -

Relevant External Links for CES5A Gene

GeneLoc Exon Structure for
CES5A

Expression for CES5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CES5A Gene

mRNA differential expression in normal tissues according to GTEx for CES5A Gene

This gene is overexpressed in Liver (x16.7) and Brain - Spinal cord (cervical c-1) (x4.5).

Protein differential expression in normal tissues from HIPED for CES5A Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CES5A Gene



Protein tissue co-expression partners for CES5A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CES5A

SOURCE GeneReport for Unigene cluster for CES5A Gene:

Hs.350800

Evidence on tissue expression from TISSUES for CES5A Gene

  • Nervous system(4.3)
  • Liver(2.5)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with CES5A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CES5A Gene

Orthologs for CES5A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CES5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CES5A 31 30
  • 98.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CES5A 31 30
  • 83.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CES5A 31 30
  • 81.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ces5a 30
  • 77.58 (n)
mouse
(Mus musculus)
Mammalia Ces5a 17 31 30
  • 77.28 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 46 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ces2 31
  • 42 (a)
ManyToMany
ces3 31
  • 41 (a)
ManyToMany
si:ch211-93f2.1 31
  • 14 (a)
ManyToMany
Species where no ortholog for CES5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CES5A Gene

ENSEMBL:
Gene Tree for CES5A (if available)
TreeFam:
Gene Tree for CES5A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CES5A: view image

Paralogs for CES5A Gene

Paralogs for CES5A Gene

(13) SIMAP similar genes for CES5A Gene using alignment to 5 proteins:

  • EST5A_HUMAN
  • E5RFG9_HUMAN
  • F5H0J7_HUMAN
  • I3L4A8_HUMAN
  • I3NI11_HUMAN

Pseudogenes.org Pseudogenes for CES5A Gene

genes like me logo Genes that share paralogs with CES5A: view

Variants for CES5A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CES5A Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
770631 Benign: not provided 55,846,598(-) G/A SYNONYMOUS_VARIANT
rs11076126 - p.Glu261Lys
rs11860456 - p.Asp537Glu
rs11860946 - p.His344Gln
rs16955812 - p.Gly499Arg

Additional dbSNP identifiers (rs#s) for CES5A Gene

Structural Variations from Database of Genomic Variants (DGV) for CES5A Gene

Variant ID Type Subtype PubMed ID
esv22088 CNV gain 19812545
esv2274629 CNV deletion 18987734
esv2714508 CNV deletion 23290073
esv2758649 CNV gain 17122850
esv3582246 CNV loss 25503493
esv3638692 CNV loss 21293372
esv3683 CNV loss 18987735
nsv103512 CNV deletion 16902084
nsv7284 OTHER inversion 18451855
nsv833240 CNV gain 17160897

Variation tolerance for CES5A Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.31; 97.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CES5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CES5A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CES5A Gene

Disorders for CES5A Gene

MalaCards: The human disease database

(2) MalaCards diseases for CES5A Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 1, multiple types
  • ctrct1
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
- elite association - COSMIC cancer census association via MalaCards
Search CES5A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CES5A

genes like me logo Genes that share disorders with CES5A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CES5A Gene

Publications for CES5A Gene

  1. Recommended nomenclature for five mammalian carboxylesterase gene families: human, mouse, and rat genes and proteins. (PMID: 20931200) Holmes RS … Maltais LJ (Mammalian genome : official journal of the International Mammalian Genome Society 2010) 2 3 54
  2. Mammalian carboxylesterase 5: comparative biochemistry and genomics. (PMID: 19727319) Holmes RS … Vandeberg JL (Comparative biochemistry and physiology. Part D, Genomics & proteomics 2008) 3 23 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. 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). (PMID: 12401131) Miyazaki M … Yamashita T (The Biochemical journal 2003) 3 23 54
  5. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X … REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology Donor Study-II Component International (PloS one 2013) 3 54

Products for CES5A Gene

  • Signalway ELISA kits for CES5A
  • Signalway Proteins for CES5A

Sources for CES5A Gene