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    HAGH hydroxyacylglutathione hydrolase [ Homo sapiens (human) ]

    Gene ID: 3029, updated on 17-Jun-2024

    Summary

    Official Symbol
    HAGHprovided by HGNC
    Official Full Name
    hydroxyacylglutathione hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:4805
    See related
    Ensembl:ENSG00000063854 MIM:138760; AllianceGenome:HGNC:4805
    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
    GLO2; GLX2; GLXII; HAGH1
    Summary
    The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
    Expression
    Broad expression in kidney (RPKM 47.0), liver (RPKM 45.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HAGH in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1807629..1827194, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1823468..1843048, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1857630..1877195, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7008 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1833677-1833903 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1836968-1837136 Neighboring gene NUBP iron-sulfur cluster assembly factor 2, cytosolic Neighboring gene insulin like growth factor binding protein acid labile subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1859423-1859585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10240 Neighboring gene Sharpr-MPRA regulatory region 12541 Neighboring gene fumarylacetoacetate hydrolase domain containing 1 Neighboring gene meiosis specific with OB-fold Neighboring gene long intergenic non-protein coding RNA 254

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydroxyacylglutathione hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hydroxyacylglutathione hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glutathione biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glutathione metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    hydroxyacylglutathione hydrolase, mitochondrial
    Names
    glyoxalase II
    hydroxyacylglutathione hydroxylase
    NP_001035517.1
    NP_001273178.1
    NP_001350841.1
    NP_001350843.1
    NP_005317.2
    XP_011520772.1
    XP_054236174.1

    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.

    Genomic

    1. NG_023249.1 RefSeqGene

      Range
      5370..24566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040427.2NP_001035517.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001035517.1

      Status: REVIEWED

      Source sequence(s)
      AY576804, BC000840, BC002627, BM982247, BU176541, DB502986, DR006636
      Consensus CDS
      CCDS32366.1
      UniProtKB/TrEMBL
      H3BPK3
      Related
      ENSP00000380511.2, ENST00000397353.6
      Conserved Domains (1) summary
      PLN02469
      Location:1256
      PLN02469; hydroxyacylglutathione hydrolase
    2. NM_001286249.2NP_001273178.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001273178.1

      Status: REVIEWED

      Source sequence(s)
      AC012180, AK298174, BC002627, BM982247
      Consensus CDS
      CCDS66900.1
      UniProtKB/Swiss-Prot
      Q16775
      Related
      ENSP00000406552.2, ENST00000455446.6
      Conserved Domains (1) summary
      cd07723
      Location:52148
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
    3. NM_001363912.1NP_001350841.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012180
      UniProtKB/TrEMBL
      B4DT01
      Conserved Domains (1) summary
      cl25711
      Location:49275
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    4. NM_001363914.1NP_001350843.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC012180
      Consensus CDS
      CCDS86494.1
      UniProtKB/TrEMBL
      H3BPQ4
      Related
      ENSP00000455422.1, ENST00000566709.5
      Conserved Domains (1) summary
      cl25711
      Location:1227
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    5. NM_005326.6NP_005317.2  hydroxyacylglutathione hydrolase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_005317.2

      Status: REVIEWED

      Source sequence(s)
      AC012180, BC002627, BM982247, DR006636
      Consensus CDS
      CCDS10447.2
      UniProtKB/Swiss-Prot
      A8K290, B4DP33, B4DRA7, E7EN93, Q16775
      UniProtKB/TrEMBL
      B4DT01
      Related
      ENSP00000380514.3, ENST00000397356.8
      Conserved Domains (3) summary
      PLN02469
      Location:49304
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:222302
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:52221
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1807629..1827194 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522470.4XP_011520772.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011520772.1

      UniProtKB/Swiss-Prot
      Q16775
      Conserved Domains (1) summary
      cd07723
      Location:52148
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1823468..1843048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380199.1XP_054236174.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X1