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    HAGH hydroxyacylglutathione hydrolase [ Homo sapiens (human) ]

    Gene ID: 3029, updated on 22-Apr-2017
    Official Symbol
    HAGHprovided by HGNC
    Official Full Name
    hydroxyacylglutathione hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:4805
    See related
    Ensembl:ENSG00000063854 MIM:138760; Vega:OTTHUMG00000128662
    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]
    Orthologs
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (1809099..1827194, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1859104..1877195, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene nucleotide binding protein 2 Neighboring gene insulin like growth factor binding protein acid labile subunit Neighboring gene fumarylacetoacetate hydrolase domain containing 1 Neighboring gene meiosis specific with OB domains Neighboring gene long intergenic non-protein coding RNA 254

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hydroxyacylglutathione hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydroxyacylglutathione hydrolase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    glutathione biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    hydroxyacylglutathione hydrolase, mitochondrial
    Names
    glx II
    glyoxalase II
    hydroxyacylglutathione hydroxylase
    NP_001035517.1
    NP_001273178.1
    NP_005317.2

    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
      5001..23092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001035517.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 5' UTR and encodes the cytosolic protein isoform (2).
      Source sequence(s)
      AY576804, BC000840, BC002627, BU176541, DB502986, DR006636
      Consensus CDS
      CCDS32366.1
      UniProtKB/Swiss-Prot
      Q16775
      Related
      ENSP00000380511.2, OTTHUMP00000158840, ENST00000397353.6, OTTHUMT00000250549
      Conserved Domains (3) summary
      PLN02469
      Location:1256
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:174254
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4173
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
    2. NM_001286249.1NP_001273178.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001273178.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC012180, AK298174, BC002627
      Consensus CDS
      CCDS66900.1
      UniProtKB/Swiss-Prot
      Q16775
      Related
      ENSP00000406552.2, OTTHUMP00000255136, ENST00000455446.6, OTTHUMT00000433835
      Conserved Domains (1) summary
      cd07723
      Location:52148
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
    3. NM_005326.4NP_005317.2  hydroxyacylglutathione hydrolase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_005317.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a mitochondrially localized isoform (1). Translation may also initiate at a downstream in-frame ATG to encode the cytosolic form.
      Source sequence(s)
      AY576804, BC002627, DR006636
      Consensus CDS
      CCDS10447.2
      UniProtKB/Swiss-Prot
      Q16775
      Related
      ENSP00000380514.3, OTTHUMP00000158839, ENST00000397356.7, OTTHUMT00000250548
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      1809099..1827194 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522469.2XP_011520771.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X1

      Conserved Domains (3) summary
      COG0491
      Location:47274
      GloB; Glyoxylase or a related metal-dependent hydrolase, beta-lactamase superfamily II [General function prediction only]
      pfam16123
      Location:222275
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:52221
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
    2. XM_011522470.2XP_011520772.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X3

      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
    3. XM_017023195.1XP_016878684.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      H3BPQ4
      Related
      ENSP00000455422.1, OTTHUMP00000255137, ENST00000566709.5, OTTHUMT00000433838

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      1859060..1877163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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