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Aliases for HAGH Gene

Aliases for HAGH Gene

  • Hydroxyacylglutathione Hydrolase 2 3 5
  • Glyoxalase II 3 4
  • EC 3.1.2.6 4 63
  • Glx II 3 4
  • HAGH1 3 4
  • GLO2 3 4
  • Hydroxyacylglutathione Hydroxylase 3
  • Hydroxyacyl Glutathione Hydrolase 2
  • GLXII 3
  • GLX2 3

External Ids for HAGH Gene

Previous GeneCards Identifiers for HAGH Gene

  • GC16M001876
  • GC16M001797
  • GC16M001799
  • GC16M001845

Summaries for HAGH Gene

Entrez Gene Summary for HAGH Gene

  • 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]

GeneCards Summary for HAGH Gene

HAGH (Hydroxyacylglutathione Hydrolase) is a Protein Coding gene. Diseases associated with HAGH include reticulate acropigmentation of kitamura. Among its related pathways are Metabolism and Pyruvate metabolism. GO annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is ETHE1.

UniProtKB/Swiss-Prot for HAGH Gene

  • Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.

Gene Wiki entry for HAGH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAGH Gene

Genomics for HAGH Gene

Regulatory Elements for HAGH Gene

Promoters for HAGH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HAGH on UCSC Golden Path with GeneCards custom track

Genomic Location for HAGH Gene

Chromosome:
16
Start:
1,795,620 bp from pter
End:
1,827,194 bp from pter
Size:
31,575 bases
Orientation:
Minus strand

Genomic View for HAGH Gene

Genes around HAGH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAGH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAGH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAGH Gene

Proteins for HAGH Gene

  • Protein details for HAGH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16775-GLO2_HUMAN
    Recommended name:
    Hydroxyacylglutathione hydrolase, mitochondrial
    Protein Accession:
    Q16775
    Secondary Accessions:
    • A8K290
    • B4DP33
    • B4DRA7
    • E7EN93

    Protein attributes for HAGH Gene

    Size:
    308 amino acids
    Molecular mass:
    33806 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAH00840.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA62483.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HAGH Gene

    Alternative splice isoforms for HAGH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAGH Gene

Proteomics data for HAGH Gene at MOPED

Selected DME Specific Peptides for HAGH Gene

Post-translational modifications for HAGH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for HAGH Gene

Protein Domains for HAGH Gene

Suggested Antigen Peptide Sequences for HAGH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16775

UniProtKB/Swiss-Prot:

GLO2_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with HAGH: view

No data available for Gene Families for HAGH Gene

Function for HAGH Gene

Molecular function for HAGH Gene

GENATLAS Biochemistry:
hydroxyacyl glutathione hydrolase
UniProtKB/Swiss-Prot CatalyticActivity:
S-(2-hydroxyacyl)glutathione + H(2)O = glutathione + a 2-hydroxy carboxylate.
UniProtKB/Swiss-Prot Function:
Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.

Enzyme Numbers (IUBMB) for HAGH Gene

Gene Ontology (GO) - Molecular Function for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004416 hydroxyacylglutathione hydrolase activity TAS --
genes like me logo Genes that share ontologies with HAGH: view
genes like me logo Genes that share phenotypes with HAGH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HAGH

miRNA for HAGH Gene

miRTarBase miRNAs that target HAGH

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAGH Gene

Localization for HAGH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAGH Gene

Isoform 1: Mitochondrion matrix.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAGH Gene COMPARTMENTS Subcellular localization image for HAGH gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5

No data available for Gene Ontology (GO) - Cellular Components for HAGH Gene

Pathways & Interactions for HAGH Gene

genes like me logo Genes that share pathways with HAGH: view

UniProtKB/Swiss-Prot Q16775-GLO2_HUMAN

  • Pathway: Secondary metabolite metabolism; methylglyoxal degradation; (R)-lactate from methylglyoxal: step 2/2.

Interacting Proteins for HAGH Gene

Gene Ontology (GO) - Biological Process for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HAGH: view

No data available for SIGNOR curated interactions for HAGH Gene

Drugs & Compounds for HAGH Gene

(7) Drugs for HAGH Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione Experimental Pharma Target 0
D-Lactic acid Experimental Pharma 0

(8) Additional Compounds for HAGH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
S-Lactoylglutathione
  • (R)-S-lactoylglutathione
  • D-Lactoylglutathione
  • delta-Lactoylglutathione
  • N-(N-L-gamma-Glutamyl-S-(2-hydroxy-1-oxopropyl)-L-cysteinyl)-glycine
  • S-D-Lactoyl-glutathione
25138-66-3
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with HAGH: view

Transcripts for HAGH Gene

Unigene Clusters for HAGH Gene

Hydroxyacylglutathione hydrolase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAGH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: -
SP7: - - - -
SP8: - - -
SP9: -
SP10:

Relevant External Links for HAGH Gene

GeneLoc Exon Structure for
HAGH
ECgene alternative splicing isoforms for
HAGH

Expression for HAGH Gene

mRNA expression in normal human tissues for HAGH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HAGH Gene

This gene is overexpressed in Liver, secretome (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HAGH Gene



SOURCE GeneReport for Unigene cluster for HAGH Gene Hs.157394

mRNA Expression by UniProt/SwissProt for HAGH Gene

Q16775-GLO2_HUMAN
Tissue specificity: Expressed in liver and kidney.
genes like me logo Genes that share expression patterns with HAGH: view

Protein tissue co-expression partners for HAGH Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for HAGH Gene

Orthologs for HAGH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HAGH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAGH 35
  • 98.97 (n)
  • 98.46 (a)
HAGH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAGH 36
  • 88 (a)
OneToOne
HAGH 35
  • 87.23 (n)
  • 87.99 (a)
dog
(Canis familiaris)
Mammalia HAGH 35
  • 87.88 (n)
  • 86.69 (a)
HAGH 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hagh 36
  • 87 (a)
OneToOne
Hagh 16
Hagh 35
  • 84.09 (n)
  • 87.66 (a)
oppossum
(Monodelphis domestica)
Mammalia HAGH 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAGH 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hagh 35
  • 83.23 (n)
  • 85.71 (a)
chicken
(Gallus gallus)
Aves HAGH 36
  • 72 (a)
OneToOne
HAGH 35
  • 73.99 (n)
  • 77.03 (a)
lizard
(Anolis carolinensis)
Reptilia HAGH 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hagh 35
  • 70.37 (n)
  • 75.42 (a)
Str.10314 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2186 35
zebrafish
(Danio rerio)
Actinopterygii hagh 35
  • 71.79 (n)
  • 79.62 (a)
wufa66a03 35
hagh 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000416 35
  • 59.6 (n)
  • 51.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4365 37
  • 58 (a)
CG4365 36
  • 46 (a)
OneToMany
CG4365 35
  • 63.8 (n)
  • 59.37 (a)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 37
  • 47 (a)
Y17G7B.3 36
  • 47 (a)
ManyToMany
Y17G7B.3 35
  • 49.28 (n)
  • 48.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 36
  • 34 (a)
ManyToMany
GLO4 36
  • 28 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7524 35
thale cress
(Arabidopsis thaliana)
eudicotyledons GLY2 35
  • 56.21 (n)
  • 54.51 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2144 35
corn
(Zea mays)
Liliopsida Zm.10563 35
rice
(Oryza sativa)
Liliopsida Os.6480 35
Os03g0332400 35
  • 55.82 (n)
  • 51.76 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7031 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6527 35
Species with no ortholog for HAGH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HAGH Gene

ENSEMBL:
Gene Tree for HAGH (if available)
TreeFam:
Gene Tree for HAGH (if available)

Paralogs for HAGH Gene

Paralogs for HAGH Gene

(2) SIMAP similar genes for HAGH Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with HAGH: view

Variants for HAGH Gene

Sequence variations from dbSNP and Humsavar for HAGH Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs238679 -- 1,822,478(-) GGCCA(C/T)GTCAG intron-variant
rs238680 -- 1,822,159(-) AAGAC(A/C/G/T)CGGGA intron-variant
rs149159 -- 1,823,354(-) ggagg(C/T)ggagc intron-variant
rs344361 -- 1,818,553(+) AAACC(C/T)CGCAC intron-variant
rs1657108 -- 1,810,080(+) GGATC(G/T)CTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HAGH Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv904954 CNV Loss 21882294
nsv905017 CNV Loss 21882294
nsv518641 CNV Loss 19592680
dgv2538n71 CNV Loss 21882294
nsv517196 CNV Gain+Loss 19592680
nsv905023 CNV Gain 21882294
dgv2539n71 CNV Loss 21882294
dgv2540n71 CNV Loss 21882294
dgv2542n71 CNV Loss 21882294
nsv905034 CNV Loss 21882294
nsv905042 CNV Loss 21882294
nsv457337 CNV Loss 19166990
nsv905043 CNV Loss 21882294
dgv335n27 CNV Gain 19166990

Variation tolerance for HAGH Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAGH Gene

HapMap Linkage Disequilibrium report
HAGH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAGH Gene

Disorders for HAGH Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAGH Gene - From: GeneTests

Disorder Aliases PubMed IDs
reticulate acropigmentation of kitamura
  • rapk
- elite association - COSMIC cancer census association via MalaCards
Search HAGH in MalaCards View complete list of genes associated with diseases

Relevant External Links for HAGH

Genetic Association Database (GAD)
HAGH
Human Genome Epidemiology (HuGE) Navigator
HAGH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAGH
genes like me logo Genes that share disorders with HAGH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAGH Gene

Publications for HAGH Gene

  1. The human hydroxyacylglutathione hydrolase (HAGH) gene encodes both cytosolic and mitochondrial forms of glyoxalase II. (PMID: 15117945) Cordell P.A. … Pease R.J. (J. Biol. Chem. 2004) 3 4 23 67
  2. The active-site residue tyr-175 in human glyoxalase II contributes to binding of glutathione derivatives. (PMID: 11018726) RidderstrAPm M. … Mannervik B. (Biochim. Biophys. Acta 2000) 23 25 26
  3. Human glyoxalase II contains an Fe(II)Zn(II) center but is active as a mononuclear Zn(II) enzyme. (PMID: 19413286) Limphong P. … Crowder M.W. (Biochemistry 2009) 3 23
  4. Glyoxalase II, a detoxifying enzyme of glycolysis byproduct methylglyoxal and a target of p63 and p73, is a pro-survival factor of the p53 family. (PMID: 16831876) Xu Y. … Chen X. (J. Biol. Chem. 2006) 3 23
  5. Overexpression of glyoxalase system enzymes in human kidney tumor. (PMID: 16803681) Antognelli C. … Mearini E. (Cancer J 2006) 3 23

Products for HAGH Gene

Sources for HAGH Gene

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