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    HAGH hydroxyacylglutathione hydrolase [ Homo sapiens (human) ]

    Gene ID: 3029, updated on 3-Nov-2024

    Summary

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    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; GLO2D; 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
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    Genomic context

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    See HAGH in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1807629..1827194, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1823468..1843048, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Glyoxalase enzyme system in human muscular dystrophy. Kar NC, et al. Clin Chim Acta, 1975 Nov 15. PMID 1192606
    2. Human glyoxalase II contains an Fe(II)Zn(II) center but is active as a mononuclear Zn(II) enzyme. Limphong P, et al. Biochemistry, 2009 Jun 16. PMID 19413286, Free PMC Article
    3. Genetic analysis of the glyoxalase system in schizophrenia. Bangel FN, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2015 Jun 3. PMID 25645869
    4. A possible S-glutathionylation of specific proteins by glyoxalase II: An in vitro and in silico study. Ercolani L, et al. Cell Biochem Funct, 2016 Dec. PMID 27935136
    5. Differing expression of enzymes of the glyoxalase system in superficial and invasive bladder carcinomas. Mearini E, et al. Eur J Cancer, 2002 Sep. PMID 12204678

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sirtuin 2 Regulates Protein LactoylLys Modifications.
      Title: Sirtuin 2 Regulates Protein LactoylLys Modifications.
    2. CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE epsilon4 carriers.
      Title: CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE ε4 carriers.
    3. Down regulation of Glyoxalase II was observed in cases of diabetic retinopathy as compared to controls.
      Title: Gene Expression of Glyoxalase II in Diabetic Retinopathy.
    4. The critical role of glyoxalases as regulators of tumorigenesis in the prostate through modulation of various critical signaling pathways, and an overview of the current knowledge on glyoxalases in bladder, kidney and testis cancers is reviewed. (GLO1, GLO2)
      Title: Glyoxalases in Urological Malignancies.
    5. epidermal expression stronger in older skin donors
      Title: The glyoxalase enzymes are differentially localized in epidermis and regulated during ageing and photoageing.
    6. Glo2, together with Glo1, represents a novel mechanism in prostate cancer progression as part of a pathway driven by PTEN/PI3K/AKT/mTOR signaling.
      Title: Glyoxalase 2 Is Involved in Human Prostate Cancer Progression as Part of a Mechanism Driven By PTEN/PI3K/AKT/mTOR Signaling With Involvement of PKM2 and ERα.
    7. This article reports for the first time a possible additional role of Glo2 that, after interacting with a target protein, is able to promote S-glutathionylation.
      Title: A possible S-glutathionylation of specific proteins by glyoxalase II: An in vitro and in silico study.
    8. Studies indicate that the most extensively investigated The most extensively investigated glyoxalase enzymes are glyoxalase I and glyoxalase II (Glo1 and Glo2).
      Title: Glyoxalase biochemistry.
    9. This study suggested that HAGH, rs11859266 and rs3743852 showed significant associations with schizophrenia in males at allelic and genotype levels.
      Title: Genetic analysis of the glyoxalase system in schizophrenia.
    10. No association between genetic variants of the HAGH gene and autism spectrum disorder was found.
      Title: Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hydroxyacyl glutathione hydrolase deficiency
    MedGen: C3279657 OMIM: 614033 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    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)

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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.

    Genomic

    1. NG_023249.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001040427.2 → NP_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:1 → 256
      PLN02469; hydroxyacylglutathione hydrolase

    2. NM_001286249.2 → NP_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:52 → 148
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    3. NM_001363912.1 → NP_001350841.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012180
      UniProtKB/TrEMBL
      B4DT01
      Conserved Domains (1) summary
      cl25711
      Location:49 → 275
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus

    4. NM_001363914.1 → NP_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:1 → 227
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus

    5. NM_005326.6 → NP_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:49 → 304
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:222 → 302
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:52 → 221
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    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_000016.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011522470.4 → XP_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:52 → 148
      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_054380199.1 → XP_054236174.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16775.2 GenPept UniProtKB/Swiss-Prot:Q16775

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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