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HAGH hydroxyacylglutathione hydrolase [ Homo sapiens (human) ]

Gene ID: 3029, updated on 5-Mar-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; 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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Gene Expression of Glyoxalase II in Diabetic Retinopathy. Zaidi A, et al. J Coll Physicians Surg Pak, 2018 Jul. PMID 29950256
  2. 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
  3. Genetic analysis of the glyoxalase system in schizophrenia. Bangel FN, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2015 Jun 3. PMID 25645869
  4. 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
  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 (69) 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
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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 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

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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_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_011522470.4 → 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

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