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    ESD esterase D [ Homo sapiens (human) ]

    Gene ID: 2098, updated on 28-Oct-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ESD in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46771256..46797700, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (45992477..46018921, complement)
    RS_2024_09 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 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)

    NEW Try the new Transcript table

    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_2024_08

    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