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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 61
  • Glx II 3 4
  • HAGH1 3 4
  • GLO2 3 4
  • Hydroxyacylglutathione Hydrolase, Mitochondrial 3
  • 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. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Pyruvate metabolism. GO annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGHL.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAGH Gene

Genomics for HAGH Gene

Regulatory Elements for HAGH Gene

Enhancers for HAGH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G001825 1.4 ENCODE dbSUPER 31.7 -1.4 -1422 6.9 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 FAHD1 HAGH JPT2 ENSG00000261505 ENSG00000261123 IFT140 ENSG00000260646 SNORA64 ENSG00000260954 ENSG00000255513
GH16G001832 1.3 ENCODE dbSUPER 28.2 -6.3 -6250 1.7 FOXA2 PKNOX1 MLX ARNT ARID4B ZNF766 KLF13 SP5 ZHX2 SMARCB1 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 JPT2 GC16M001827 GC16M001829 PIR46763
GH16G001913 1.2 FANTOM5 ENCODE 23 -86.4 -86407 1.0 HDAC1 HNRNPUL1 PKNOX1 FOXA2 TBL1XR1 KLF17 ARID4B SIN3A GLI4 ZBTB40 FAHD1 HAGH MEIOB HS3ST6 ENSG00000260807 PIR49138
GH16G001870 0.9 ENCODE 30.6 -43.6 -43560 0.9 FOXA2 SIN3A YY1 ZNF143 FOS SP3 SP5 ZNF579 SSRP1 KDM1A FAHD1 HAGH HS3ST6 SNORD60 TRAF7 RAB26 JPT2 LOC102723890 GC16M001851
GH16G001769 1.4 ENCODE dbSUPER 19.4 +54.6 54643 6.4 HDGF PKNOX1 ARNT CREB3L1 AGO1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 EME2 ENSG00000261505 ENSG00000260051 ENSG00000260954 ENSG00000255513 SNORA64 FAHD1 HAGH JPT2 SNORD60
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAGH on UCSC Golden Path with GeneCards custom track

Promoters for HAGH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082394 -106 2601 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3

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

Selected DME Specific Peptides for HAGH Gene

Q16775:
  • GLKVYGGDDRIG
  • VFTGDTL
  • VDPVQPQKV
  • VLTTHHHWDHAGGNEK
  • PSTLAEE
  • THLSTLQVGSL

Post-translational modifications for HAGH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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 --
GO:0005515 protein binding IPI 21044950
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
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

miRNA for HAGH Gene

miRTarBase miRNAs that target HAGH

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAGH gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5

Gene Ontology (GO) - Cellular Components for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HAGH: view

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.

Gene Ontology (GO) - Biological Process for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0006750 glutathione biosynthetic process IDA 8550579
GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA --
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

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

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

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

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

Transcripts for HAGH Gene

Unigene Clusters for HAGH Gene

Hydroxyacylglutathione hydrolase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HAGH Gene



Protein tissue co-expression partners for HAGH Gene

NURSA nuclear receptor signaling pathways regulating expression of HAGH Gene:

HAGH

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.

Evidence on tissue expression from TISSUES for HAGH Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Kidney(2.9)
  • Lung(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with HAGH: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia HAGH 34 35
  • 87.88 (n)
cow
(Bos Taurus)
Mammalia HAGH 34 35
  • 87.23 (n)
mouse
(Mus musculus)
Mammalia Hagh 34 16 35
  • 84.09 (n)
rat
(Rattus norvegicus)
Mammalia Hagh 34
  • 83.23 (n)
oppossum
(Monodelphis domestica)
Mammalia HAGH 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAGH 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAGH 34 35
  • 73.99 (n)
lizard
(Anolis carolinensis)
Reptilia HAGH 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hagh 34
  • 70.37 (n)
Str.10314 34
zebrafish
(Danio rerio)
Actinopterygii hagh 34 35
  • 71.79 (n)
wufa66a03 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2186 34
fruit fly
(Drosophila melanogaster)
Insecta CG4365 36 34 35
  • 63.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000416 34
  • 59.6 (n)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 36 34 35
  • 49.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 35
  • 34 (a)
ManyToMany
GLO4 35
  • 28 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GLY2 34
  • 56.21 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7524 34
rice
(Oryza sativa)
Liliopsida Os03g0332400 34
  • 55.82 (n)
Os.6480 34
barley
(Hordeum vulgare)
Liliopsida Hv.2144 34
wheat
(Triticum aestivum)
Liliopsida Ta.7031 34
corn
(Zea mays)
Liliopsida Zm.10563 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6527 34
Species where no ortholog for HAGH was found in the sources mined by GeneCards:
  • 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
rs1000004031 -- 1,828,829(+) TTAGG(G/T)TATCT intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000056645 -- 1,828,977(+) TGGGG(C/T)TTCAG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000094485 -- 1,810,197(+) TAGGA(C/T)ACTGC intron-variant
rs1000113892 -- 1,824,819(+) GAACA(A/G)TAATA intron-variant
rs1000156824 -- 1,815,191(+) GAGAC(C/T)GACAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv335n27 CNV gain 19166990
dgv4856n54 CNV loss 21841781
dgv4857n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1040440 CNV gain 25217958
nsv1042986 CNV loss 25217958
nsv1051692 CNV loss 25217958
nsv1070733 CNV deletion 25765185
nsv457337 CNV loss 19166990
nsv517196 CNV gain+loss 19592680
nsv518641 CNV loss 19592680
nsv571172 CNV loss 21841781
nsv571175 CNV loss 21841781
nsv571177 CNV gain 21841781
nsv952900 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAGH

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

Disorders for HAGH Gene

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

No disorders were found for HAGH Gene.

No data available for MalaCards , 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 22 64
  2. Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue. (PMID: 10508780) Cameron A.D. … Mannervik B. (Structure 1999) 3 4 22 64
  3. Molecular cloning, heterologous expression, and characterization of human glyoxalase II. (PMID: 8550579) Ridderstroem M. … Mannervik B. (J. Biol. Chem. 1996) 3 4 22 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. 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 22 64

Products for HAGH Gene

Sources for HAGH Gene

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