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ESD esterase D [ Homo sapiens (human) ]

Gene ID: 2098, updated on 5-May-2024

Summary

Official Symbol
ESDprovided by HGNC
Official Full Name
esterase Dprovided by HGNC
Primary source
HGNC:HGNC:3465
See related
Ensembl:ENSG00000139684 MIM:133280; AllianceGenome:HGNC:3465
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
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Genomic context

See ESD in Genome Data Viewer
Location:
13q14.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46771256..46797700, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (45992477..46018921, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (47345391..47371296, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5323 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:47127762-47128462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:47192746-47193250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:47193251-47193753 Neighboring gene leucine rich repeats and calponin homology domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7711 Neighboring gene uncharacterized LOC107984563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:47370431-47371032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7714 Neighboring gene HTR2A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5328 Neighboring gene 5-hydroxytryptamine receptor 2A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:47508534-47509733 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:47521457-47522281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7716 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:47676673-47677872 Neighboring gene uncharacterized LOC105370195

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

Clone Names

  • FLJ11763

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-formylglutathione hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables carboxylic ester hydrolase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables hydrolase activity, acting on ester bonds IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables methylumbelliferyl-acetate deacetylase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in formaldehyde catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in 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_054230137.1
XP_054230138.1

NCBI Reference Sequences (RefSeq)

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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, Q5TBU8, Q5TBV0, Q5TBV2, Q9BVJ2
    UniProtKB/TrEMBL
    A0A140VJJ2, X6RA14
    Related
    ENSP00000367992.3, ENST00000378720.8
    Conserved Domains (1) summary
    PLN02442
    Location:2281
    PLN02442; S-formylglutathione hydrolase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 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, Q5TBU8, Q5TBV0, Q5TBV2, Q9BVJ2
    UniProtKB/TrEMBL
    A0A140VJJ2, X6RA14
    Conserved Domains (1) summary
    PLN02442
    Location:2281
    PLN02442; S-formylglutathione hydrolase
  2. XM_005266278.4XP_005266335.1  S-formylglutathione hydrolase isoform X1

    See identical proteins and their annotated locations for XP_005266335.1

    UniProtKB/Swiss-Prot
    P10768, Q5TBU8, Q5TBV0, Q5TBV2, Q9BVJ2
    UniProtKB/TrEMBL
    A0A140VJJ2, X6RA14
    Related
    ENSP00000476193.2, ENST00000471867.3
    Conserved Domains (1) summary
    PLN02442
    Location:2281
    PLN02442; S-formylglutathione hydrolase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    45992477..46018921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374162.1XP_054230137.1  S-formylglutathione hydrolase isoform X1

    UniProtKB/Swiss-Prot
    P10768, Q5TBU8, Q5TBV0, Q5TBV2, Q9BVJ2
    UniProtKB/TrEMBL
    A0A140VJJ2
  2. XM_054374163.1XP_054230138.1  S-formylglutathione hydrolase isoform X1

    UniProtKB/Swiss-Prot
    P10768, Q5TBU8, Q5TBV0, Q5TBV2, Q9BVJ2
    UniProtKB/TrEMBL
    A0A140VJJ2