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ESD Gene(Protein Coding)

Esterase D

GCID:
GC13M046771
GIFtS:
61
Genes Participants
UDN Logo

Aliases for ESD Gene

Aliases for ESD Gene

  • Esterase D 2 3 4 5
  • Esterase D/Formylglutathione Hydrolase 2 3
  • Methylumbelliferyl-Acetate Deacetylase 3 4
  • S-Formylglutathione Hydrolase 2 3
  • EC 3.1.2.12 4 61
  • FGH 3 4
  • Testicular Tissue Protein Li 66 3
  • Esterase 10 3
  • EC 3.1.1.56 4

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 Wilson Disease and Leukocoria. Among its related pathways are Phase I biotransformations, non P450 and Carbon metabolism. GO annotations related to this gene include serine-type peptidase activity and hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot for ESD Gene

  • Serine hydrolase involved in the detoxification of formaldehyde.

Gene Wiki entry for ESD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESD Gene

Genomics for ESD Gene

Products:

  1. Regulatory Element

Regulatory Elements for ESD Gene

Enhancers for ESD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G046751 1 Ensembl ENCODE 10.3 +45.7 45696 0.8 CTCF BACH1 MAX BMI1 RAD21 POLR2A RELB IKZF2 CHD2 MTA2 ESD ENSG00000278462 GC13P046789
GH13G046795 1.1 ENCODE 7.3 +0.4 444 2.5 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263 ESD HTR2A GC13P046789
GH13G046759 0.6 ENCODE 11.1 +37.6 37641 0.2 ZNF362 CEBPB RAD21 GABPA FOXA1 JUND ATF3 CEBPA FOS HNF4A ESD LRCH1 HTR2A GC13P046789 ENSG00000278462
GH13G046757 0.5 ENCODE 11.1 +40.5 40521 0.2 PRDM6 KLF17 ZIC2 WT1 ESD LRCH1 HTR2A GC13P046789 ENSG00000278462
GH13G046749 0.4 ENCODE 10.2 +47.7 47660 1.8 GATA3 FOXA1 ESD LRCH1 ENSG00000278462 GC13P046789
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESD on UCSC Golden Path with GeneCards custom track

Promoters for ESD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000062461 581 1401 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263 SP3

Transcription factor binding sites by QIAGEN in the ESD gene promoter:

Genomic Location for ESD Gene

Chromosome:
13
Start:
46,771,256 bp from pter
End:
46,797,681 bp from pter
Size:
26,426 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 Structure • Gene Density

RefSeq DNA sequence for ESD Gene

Proteins for ESD Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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.
    SequenceCaution:
    • Sequence=CAI12225.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12226.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESD Gene

neXtProt entry for ESD Gene

Protein Expression for ESD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ESD Gene

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

Post-translational modifications for ESD Gene

  • Ubiquitination at Lys10, isoforms=17, isoforms=167, isoforms=198, and Lys209
  • Modification sites at PhosphoSitePlus

Other Protein References for ESD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ESD

Domains & Families for ESD Gene

Protein Domains for ESD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ESD Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ESD Gene

Function for ESD Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ESD Gene

GENATLAS Biochemistry:
esterase D
UniProtKB/Swiss-Prot CatalyticActivity:
S-formylglutathione + H(2)O = glutathione + formate.
UniProtKB/Swiss-Prot CatalyticActivity:
4-methylumbelliferyl acetate + H(2)O = 4-methylumbelliferone + acetate.
UniProtKB/Swiss-Prot Function:
Serine hydrolase involved in the detoxification of formaldehyde.

Enzyme Numbers (IUBMB) 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,TAS --
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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
extracellular 5
endoplasmic reticulum 4
cytosol 4
nucleus 3
plasma membrane 2
golgi apparatus 2

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:0031410 cytoplasmic vesicle IEA --
GO:0070062 extracellular exosome IDA 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

1 KEGG pathway 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
Budesonide Approved Pharma Anti-inflammatory corticosteroid 432
Menthol Approved Pharma Partial agonist, Activator 2606
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 112

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
S-formylglutathione
  • S-Formylglutathione
 50409-81-9
4-methylumbelliferone
4-Methylumbelliferyl acetate
  • 4-Methyl-7-acetyloxy coumarin
  • 4-Methylumbelliferyl acetate
  • 7-(Acetyloxy)-4-methyl-2-benzopyrone
  • 7-Acetoxy-4-methyl-2H-1-benzopyran-2-one
  • 7-Acetoxy-4-methylcoumarin
 2747-05-9
genes like me logo Genes that share compounds with ESD: view

Transcripts for ESD Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ESD Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(504) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ESD Gene

Esterase D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ESD

Expression for ESD Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for ESD Gene
mRNA expression by BioGPS for ESD GenemRNA expression by GTEx for ESD Gene

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



Protein tissue co-expression partners for ESD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ESD Gene:

ESD

SOURCE GeneReport for Unigene cluster for ESD Gene:

Hs.432491

Evidence on tissue expression from TISSUES for ESD Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Blood(2.6)
  • Lung(2.5)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with ESD: view

Primer Products

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 34 35
  • 99.29 (n)
dog
(Canis familiaris)
 Mammalia ESD 34 35
  • 92.67 (n)
cow
(Bos Taurus)
 Mammalia ESD 34 35
  • 90.31 (n)
oppossum
(Monodelphis domestica)
 Mammalia ESD 35
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ESD 35
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Esd 34 35
  • 87.23 (n)
Gm2904 16
rat
(Rattus norvegicus)
 Mammalia Esd 34
  • 87.12 (n)
chicken
(Gallus gallus)
 Aves ESD 34 35
  • 80.02 (n)
lizard
(Anolis carolinensis)
 Reptilia ESD 35
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia esd 34
  • 75.65 (n)
Str.11945 34
zebrafish
(Danio rerio)
 Actinopterygii esd 34 35
  • 72.7 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002627 34
  • 57.35 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG4390 36 34 35
  • 57.09 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y48G10A.1 34 35
  • 56.88 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AEL156W 34
  • 50.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F01947g 34
  • 50.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YJL068C 34
  • 48.62 (n)
-- 35
  • 38 (a)
 OneToOne
-- 37
thale cress
(Arabidopsis thaliana)
 eudicotyledons SFGH 34
  • 57.49 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7071 34
rice
(Oryza sativa)
 Liliopsida Os01g0939700 34
  • 57.91 (n)
barley
(Hordeum vulgare)
 Liliopsida Hv.2989 34
corn
(Zea mays)
 Liliopsida Zm.3730 34
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.1047 35
  • 61 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU00173 34
  • 51.67 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5019 34
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)

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 from dbSNP and Humsavar for ESD Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000401908 -- 46,791,434(+) AAAGA(C/G)TAATC intron-variant
rs1000408001 -- 46,798,723(+) CTGAG(A/G)GGATA upstream-variant-2KB
rs1000455072 -- 46,784,546(+) TATAA(C/T)AAACC intron-variant, utr-variant-5-prime
rs1000465190 -- 46,798,099(+) CTCAG(A/G)CCCAT upstream-variant-2KB
rs1000526282 -- 46,784,187(+) ATCAT(A/G)CCACT intron-variant

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)

Relevant External Links for ESD Gene

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

Disorders for ESD Gene

MalaCards: The human disease database

(2) MalaCards diseases for ESD Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wilson disease
  • cerebral pseudosclerosis
leukocoria
  • leucocoria
- elite association - COSMIC cancer census association via MalaCards
Search ESD in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESD

Genetic Association Database (GAD)
ESD
Human Genome Epidemiology (HuGE) Navigator
ESD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESD
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 Z.-J. (FASEB J. 2009) 3 4 22 64
  2. [Genetic polymorphism of erythrocytic enzymes in Yakut populations]. (PMID: 11963573) Tarskaia L.A. … Spitsin V.A. (Genetika 2002) 3 22 46 64
  3. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PMID: 11436564) Spitsyn V.A. … Afanas'eva I.S. (Genetika 2001) 3 22 46 64
  4. Molecular analysis of esterase D polymorphism. (PMID: 7907313) Tsuchida S. … Ikemoto S. (Hum. Genet. 1994) 3 4 22 64
  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. (J. Hum. Genet. 2009) 3 46 64

Products for ESD Gene

Sources for ESD Gene

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