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ESD esterase D [ Homo sapiens (human) ]

Gene ID: 2098, updated on 7-Jun-2020

Summary

Official Symbol
ESDprovided by HGNC
Official Full Name
esterase Dprovided by HGNC
Primary source
HGNC:HGNC:3465
See related
Ensembl:ENSG00000139684 MIM:133280
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
FGH
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 31.6), ovary (RPKM 31.3) and 25 other tissues See more
Orthologs

Genomic context

See ESD in Genome Data Viewer
Location:
13q14.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (46771256..46797700, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (47345391..47371423, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and calponin homology domain containing 1 Neighboring gene uncharacterized LOC107984563 Neighboring gene HTR2A antisense RNA 1 Neighboring gene 5-hydroxytryptamine receptor 2A Neighboring gene uncharacterized LOC107984594

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 Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human esterase D (ESD; S-formylglutathione hydrolase) at amino acid residues 76-77 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11763

Gene Ontology Provided by GOA

Function Evidence Code Pubs
S-formylglutathione hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carboxylic ester hydrolase activity NAS
Non-traceable Author Statement
more info
PubMed 
hydrolase activity, acting on ester bonds IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
methylumbelliferyl-acetate deacetylase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
formaldehyde catabolic process IEA
Inferred from Electronic Annotation
more info
 
glutathione derivative biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
S-formylglutathione hydrolase
Names
esterase 10
esterase D/formylglutathione hydrolase
methylumbelliferyl-acetate deacetylase
testicular tissue protein Li 66
NP_001975.1
XP_005266335.1
XP_011533256.1
XP_016875903.1

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_001984.2NP_001975.1  S-formylglutathione hydrolase

    See identical proteins and their annotated locations for NP_001975.1

    Status: REVIEWED

    Source sequence(s)
    AF112219
    Consensus CDS
    CCDS9404.1
    UniProtKB/Swiss-Prot
    P10768
    UniProtKB/TrEMBL
    A0A140VJJ2
    Related
    ENSP00000367992.3, ENST00000378720.8
    Conserved Domains (2) summary
    PLN02442
    Location:2281
    PLN02442; S-formylglutathione hydrolase
    COG0627
    Location:1282
    FrmB; S-formylglutathione hydrolase FrmB [Defense mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    46771256..46797700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534954.2XP_011533256.1  S-formylglutathione hydrolase isoform X1

    See identical proteins and their annotated locations for XP_011533256.1

    UniProtKB/Swiss-Prot
    P10768
    UniProtKB/TrEMBL
    A0A140VJJ2
    Conserved Domains (2) summary
    PLN02442
    Location:2281
    PLN02442; S-formylglutathione hydrolase
    COG0627
    Location:1282
    FrmB; S-formylglutathione hydrolase FrmB [Defense mechanisms]
  2. XM_005266278.3XP_005266335.1  S-formylglutathione hydrolase isoform X1

    See identical proteins and their annotated locations for XP_005266335.1

    UniProtKB/Swiss-Prot
    P10768
    UniProtKB/TrEMBL
    A0A140VJJ2
    Related
    ENSP00000476193.2, ENST00000471867.3
    Conserved Domains (2) summary
    PLN02442
    Location:2281
    PLN02442; S-formylglutathione hydrolase
    COG0627
    Location:1282
    FrmB; S-formylglutathione hydrolase FrmB [Defense mechanisms]
  3. XM_017020414.1XP_016875903.1  S-formylglutathione hydrolase isoform X2

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