This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009] See more...

Aliases for ESD Gene

Aliases for ESD Gene

  • Esterase D 2 3 4 5
  • S-Formylglutathione Hydrolase 2 3 4
  • Esterase D/Formylglutathione Hydrolase 2 3
  • Methylumbelliferyl-Acetate Deacetylase 3 4
  • EC 3.1.2.12 4 50
  • FGH 3 4
  • Testicular Tissue Protein Li 66 3
  • Esterase 10 3
  • EC 3.1.1.56 4
  • ESD 5

External Ids for ESD Gene

Previous GeneCards Identifiers for ESD Gene

  • GC13M045345
  • GC13M041332
  • GC13M046282
  • GC13M045143
  • GC13M046243
  • GC13M047345
  • GC13M028138

Summaries for ESD Gene

Entrez Gene Summary for ESD Gene

  • This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]

GeneCards Summary for ESD Gene

ESD (Esterase D) is a Protein Coding gene. Diseases associated with ESD include Bilateral Retinoblastoma and Wilson Disease. Among its related pathways are Carbon metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include serine-type peptidase activity and hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot Summary for ESD Gene

Gene Wiki entry for ESD Gene

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

Genomics for ESD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ESD 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
GH13J046795 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 257.3 +0.6 645 2.9 BCLAF1 MYC ZNF600 ZNF592 POLR2A CEBPA ATF3 ZBTB10 YY1 MXD4 ESD HTR2A lnc-ESD-1 LOC107984563 LRCH1
GH13J046638 Enhancer 1 ENCODE dbSUPER 10.4 +156.9 156875 4.2 ZNF600 BCL11A ZNF592 TRIM22 FEZF1 IRF4 SMARCA5 BHLHE40 BATF ZNF24 LRCH1 ESD RUBCNL piR-41245-072 HSALNG0096893
GH13J046757 Enhancer 0.8 Ensembl ENCODE 11.1 +39.0 38999 4.2 CEBPA ATF3 ZIC2 FOXA2 RXRA JUND PRDM6 SPI1 POLR2A HNF4A FJ601684-101 HSALNG0096896 LOC107984563 HTR2A ESD LRCH1 lnc-ESD-1
GH13J046751 Enhancer 0.7 ENCODE 10.4 +45.7 45736 0.8 POLR2A BCL11A TRIM22 EBF1 BHLHE40 SPI1 MAX ELF1 IKZF1 BMI1 ESD FJ601684-101 SNODB2075 lnc-ESD-1 LRCH1
GH13J046765 Enhancer 0.5 Ensembl 11.1 +33.3 33348 0.5 ZNF654 CTCF RAD21 CUX1 SMC3 ZFP69B ZSCAN4 ZNF692 ESD LRCH1 HTR2A LOC107984563 HSALNG0096896 lnc-ESD-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESD on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the ESD gene promoter:
  • HNF-1
  • HNF-1A
  • Msx-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for ESD Gene

Latest Assembly
chr13:46,771,256-46,797,700
(GRCh38/hg38)
Size:
26,445 bases
Orientation:
Minus strand

Previous Assembly
chr13:47,345,391-47,371,296
(GRCh37/hg19 by Entrez Gene)
Size:
25,906 bases
Orientation:
Minus strand

chr13:47,345,391-47,371,367
(GRCh37/hg19 by Ensembl)
Size:
25,977 bases
Orientation:
Minus strand

Genomic View for ESD Gene

Genes around ESD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ESD Gene

Proteins for ESD Gene

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

    Protein Symbol:
    P10768-ESTD_HUMAN
    Recommended name:
    S-formylglutathione hydrolase
    Protein Accession:
    P10768
    Secondary Accessions:
    • Q5TBU8
    • Q5TBV0
    • Q5TBV2
    • Q9BVJ2

    Protein attributes for ESD Gene

    Size:
    282 amino acids
    Molecular mass:
    31463 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ESD Gene

neXtProt entry for ESD Gene

Selected DME Specific Peptides for ESD Gene

P10768:
  • CFGGLQKVFEH
  • VYLPPKA
  • GYDHSYYF
  • YWLSGLTC
  • PDTSPRG

Post-translational modifications for ESD Gene

  • Ubiquitination at Lys4, Lys10, Lys17, Lys167, Lys198, Lys200, and Lys209
  • Modification sites at PhosphoSitePlus

Other Protein References for ESD Gene

Domains & Families for ESD Gene

Gene Families for ESD Gene

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

Protein Domains for ESD Gene

InterPro:
Blocks:
  • Putative esterase

Suggested Antigen Peptide Sequences for ESD Gene

GenScript: Design optimal peptide antigens:
  • Esterase D (ESTD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10768

UniProtKB/Swiss-Prot:

ESTD_HUMAN :
  • Belongs to the esterase D family.
Family:
  • Belongs to the esterase D family.
genes like me logo Genes that share domains with ESD: view

Function for ESD Gene

Molecular function for ESD Gene

UniProtKB/Swiss-Prot Function:
Serine hydrolase involved in the detoxification of formaldehyde.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + S-formylglutathione = formate + glutathione + H(+); Xref=Rhea:RHEA:14961, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15740, ChEBI:CHEBI:57688, ChEBI:CHEBI:57925; EC=3.1.2.12; Evidence={ECO:0000269|PubMed:4768551};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-methylumbelliferyl acetate + H2O = 4-methylumbelliferone + acetate + H(+); Xref=Rhea:RHEA:12208, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17224, ChEBI:CHEBI:17763, ChEBI:CHEBI:30089; EC=3.1.1.56; Evidence={ECO:0000269|PubMed:4768551};.
GENATLAS Biochemistry:
esterase D

Enzyme Numbers (IUBMB) for ESD Gene

Phenotypes From GWAS Catalog for ESD Gene

Gene Ontology (GO) - Molecular Function for ESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IDA 19126594
GO:0018738 S-formylglutathione hydrolase activity IEA,IBA 21873635
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with ESD: view
genes like me logo Genes that share phenotypes with ESD: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESD

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

Localization for ESD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESD Gene

Cytoplasm. Cytoplasmic vesicle.

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 ESD gene
Compartment Confidence
cytosol 5
extracellular 4
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005829 cytosol IBA 21873635
GO:0031410 cytoplasmic vesicle IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ESD: view

Pathways & Interactions for ESD Gene

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

Pathways by source for ESD Gene

Gene Ontology (GO) - Biological Process for ESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0046294 formaldehyde catabolic process IEA --
GO:1901687 glutathione derivative biosynthetic process TAS --
genes like me logo Genes that share ontologies with ESD: view

No data available for SIGNOR curated interactions for ESD Gene

Drugs & Compounds for ESD Gene

(35) Drugs for ESD Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved, Investigational Nutra Target 0
Budesonide Approved Pharma Anti-inflammatory corticosteroid 525
Epinephrine Approved, Vet_approved Pharma 1491
Menthol Approved Pharma 165
Methylprednisolone Approved, Vet_approved Pharma Apoptosis inducer,GR agonist, Glucocorticoid receptor agonist 1686

(10) Additional Compounds for ESD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
S-formylglutathione
  • N-(S-(Formyl-N-L-gamma-glutamyl)-L-cysteinyl)glycine
  • N-(S-(Formyl-N-L-g-glutamyl)-L-cysteinyl)glycine
  • N-(S-(Formyl-N-L-γ-glutamyl)-L-cysteinyl)glycine
  • L-gamma-Glutamyl-S-formyl-L-cysteinylglycine
  • L-γ-Glutamyl-S-formyl-L-cysteinylglycine
50409-81-9
4-methylumbelliferone
  • 4-Methyl-7-hydroxycoumarin
  • 4-MU
  • 7-Hydroxy-4-methyl-2-oxo-2H-1-benzopyran
  • 7-Hydroxy-4-methyl-2-oxo-3-chromene
  • 7-Hydroxy-4-methyl-2H-1-benzopyran-2-one
4-Methylumbelliferyl acetate
  • 4-Methyl-7-acetyloxy coumarin
  • 7-(Acetyloxy)-4-methyl-2-benzopyrone
  • 7-(Acetyloxy)-4-methyl-2H-1-benzopyran-2-one
  • 7-Acetoxy-4-methylchromen-2-one
  • 7-Acetoxy-4-methylcoumarin
2747-05-9
genes like me logo Genes that share compounds with ESD: view

Transcripts for ESD Gene

mRNA/cDNA for ESD Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESD

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: - - - -
SP3: -
SP4: -
SP5:

Relevant External Links for ESD Gene

GeneLoc Exon Structure for
ESD

Expression for ESD Gene

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

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



Protein tissue co-expression partners for ESD Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ESD Gene:

Hs.432491

Evidence on tissue expression from TISSUES for ESD Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Liver(4.5)
  • Lung(2.8)
  • Skin(2.6)
  • Blood(2.5)
  • Eye(2.5)
  • Kidney(2.4)
  • Thyroid gland(2.3)
  • Heart(2.3)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ESD: view

Primer products for research

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

Orthologs for ESD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ESD 29 30
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ESD 29 30
  • 92.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ESD 29 30
  • 90.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ESD 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ESD 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Esd 29 16 30
  • 87.23 (n)
OneToOne
Esd-ps 16
Rat
(Rattus norvegicus)
Mammalia Esd 29
  • 87.12 (n)
Chicken
(Gallus gallus)
Aves ESD 29 30
  • 80.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ESD 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia esd 29
  • 75.65 (n)
Str.11945 29
Zebrafish
(Danio rerio)
Actinopterygii esd 29 30
  • 72.7 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002627 29
  • 57.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4390 29 30 31
  • 57.09 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y48G10A.1 29 30
  • 56.88 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL156W 29
  • 50.96 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01947g 29
  • 50.72 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YJL068C 29
  • 48.62 (n)
-- 30
  • 38 (a)
OneToOne
-- 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SFGH 29
  • 57.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7071 29
Rice
(Oryza sativa)
Liliopsida Os01g0939700 29
  • 57.91 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.2989 29
Corn
(Zea mays)
Liliopsida Zm.3730 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1047 30
  • 61 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00173 29
  • 51.67 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5019 29
Species where no ortholog for ESD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ESD Gene

ENSEMBL:
Gene Tree for ESD (if available)
TreeFam:
Gene Tree for ESD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESD: view image
Alliance of Genome Resources:
Additional Orthologs for ESD

Paralogs for ESD Gene

Pseudogenes.org Pseudogenes for ESD Gene

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

No data available for Paralogs for ESD Gene

Variants for ESD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ESD Gene

ESTD_HUMAN-P10768
There are two major electrophoretic isotypes. The sequence of the ESD*1 variant is shown (PubMed:12721789, PubMed:7907313).

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

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs112839562 Benign: not provided 46,771,452(-) G/A
NM_001984.2(ESD):c.813C>T (p.Asp271=)
SYNONYMOUS
rs35111834 Benign: not provided 46,782,700(-) G/A
NM_001984.2(ESD):c.348C>T (p.Thr116=)
SYNONYMOUS
rs74317455 Benign: not provided 46,777,532(-) T/C
NM_001984.2(ESD):c.692A>G (p.Asp231Gly)
MISSENSE
rs15303 -- p.Gly257Asp
rs9778 -- p.Gly190Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ESD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2763019 CNV loss 21179565
esv3892341 CNV gain 25118596

Variation tolerance for ESD Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.59; 86.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESD
Leiden Open Variation Database (LOVD)
ESD

SNP Genotyping and Copy Number Assays for research

Disorders for ESD Gene

MalaCards: The human disease database

(8) MalaCards diseases for ESD Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bilateral retinoblastoma
wilson disease
  • wnd
dermoid cyst of ovary
  • dermoid cyst
retinoblastoma
  • rb1
familial retinoblastoma
  • hereditary retinoblastoma
- elite association - COSMIC cancer census association via MalaCards
Search ESD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ESD: view

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

Publications for ESD Gene

  1. Crystal structure of human esterase D: a potential genetic marker of retinoblastoma. (PMID: 19126594) Wu D … Liu ZJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 22
  2. [Genetic polymorphism of erythrocytic enzymes in Yakut populations]. (PMID: 11963573) Tarskaia LA … Spitsin VA (Genetika 2002) 3 22 40
  3. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PMID: 11436564) Spitsyn VA … Afanas'eva IS (Genetika 2001) 3 22 40
  4. Molecular analysis of esterase D polymorphism. (PMID: 7907313) Tsuchida S … Ikemoto S (Human genetics 1994) 3 4 22
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 40

Products for ESD Gene

Sources for ESD Gene