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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 56
  • 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. Diseases associated with HAGH include Hydroxyacyl Glutathione Hydrolase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for HAGH Gene

Promoters and enhancers for HAGH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I001825 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 581.7 -1.4 -1421 6.9 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 FAHD1 HAGH GC16M001827 GC16M001829 ENSG00000261505 SRRM2 TELO2 ENSG00000260051 CRAMP1 ENSG00000260954
GH16I001769 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.4 +54.6 54643 6.4 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 EME2 NME3 MRPS34 ENSG00000260051 ENSG00000261505 CRAMP1 TELO2 SRRM2 ENSG00000260646 ENSG00000260954
GH16I001871 Promoter/Enhancer 1.3 EPDnew Ensembl 26.3 -45.1 -45097 1 HDAC1 PKNOX1 ATF1 RB1 ZBTB40 POLR2B EGR1 ATF7 CREM SMAD5 LOC102723890 MEIOB FAHD1 HAGH HS3ST6 RAB26 SNORD60 TRAF7 JPT2 LINC00254
GH16I001832 Enhancer 1.2 ENCODE dbSUPER 28.3 -6.2 -6249 1.7 PKNOX1 FOXA2 MLX ARNT ARID4B ZNF766 E2F8 SP5 ZNF592 KAT8 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 JPT2 GC16M001827 PIR46763 GC16M001829
GH16I001793 Promoter/Enhancer 1.3 EPDnew ENCODE 22.5 +32.9 32902 2.3 FOXA2 ARID4B THRB ZNF48 RAD21 RARA YY1 SLC30A9 THAP11 HMG20B IGFALS SPSB3 EME2 HAGH JPT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAGH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAGH gene promoter:

Genomic Locations for HAGH Gene

Genomic Locations for HAGH Gene
chr16:1,795,620-1,827,194
(GRCh38/hg38)
Size:
31,575 bases
Orientation:
Minus strand
chr16:1,845,621-1,877,195
(GRCh37/hg19)

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

Gene Families for HAGH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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

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

No data available for Phenotypes From GWAS Catalog , 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 HDA,IDA 23376485
genes like me logo Genes that share ontologies with HAGH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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.

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, Investigational 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: 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
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

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

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 33 34
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia HAGH 33 34
  • 87.88 (n)
cow
(Bos Taurus)
Mammalia HAGH 33 34
  • 87.23 (n)
mouse
(Mus musculus)
Mammalia Hagh 33 16 34
  • 84.09 (n)
rat
(Rattus norvegicus)
Mammalia Hagh 33
  • 83.23 (n)
oppossum
(Monodelphis domestica)
Mammalia HAGH 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAGH 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAGH 33 34
  • 73.99 (n)
lizard
(Anolis carolinensis)
Reptilia HAGH 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hagh 33
  • 70.37 (n)
Str.10314 33
zebrafish
(Danio rerio)
Actinopterygii hagh 33 34
  • 71.79 (n)
wufa66a03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2186 33
fruit fly
(Drosophila melanogaster)
Insecta CG4365 35 33 34
  • 63.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000416 33
  • 59.6 (n)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 35 33 34
  • 49.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 34
  • 34 (a)
ManyToMany
GLO4 34
  • 28 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GLY2 33
  • 56.21 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7524 33
rice
(Oryza sativa)
Liliopsida Os03g0332400 33
  • 55.82 (n)
Os.6480 33
barley
(Hordeum vulgare)
Liliopsida Hv.2144 33
wheat
(Triticum aestivum)
Liliopsida Ta.7031 33
corn
(Zea mays)
Liliopsida Zm.10563 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6527 33
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 Variation AA Info Type
rs1000004031 -- 1,828,829(-) G/T upstream_transcript_variant
rs1000056645 -- 1,828,977(-) C/T upstream_transcript_variant
rs1000094485 -- 1,810,197(-) C/T intron_variant
rs1000113892 -- 1,824,819(-) A/G intron_variant
rs1000156824 -- 1,815,191(-) C/T 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)

Additional Variant Information for HAGH Gene

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

SNP Genotyping and Copy Number Assay Products

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: OMIM and GTR

Disorder Aliases PubMed IDs
hydroxyacyl glutathione hydrolase deficiency
  • glyoxalase ii deficiency
- elite association - COSMIC cancer census association via MalaCards
Search HAGH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAGH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 PA … Pease RJ (The Journal of biological chemistry 2004) 3 4 22 58
  2. Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue. (PMID: 10508780) Cameron AD … Mannervik B (Structure (London, England : 1993) 1999) 3 4 22 58
  3. Molecular cloning, heterologous expression, and characterization of human glyoxalase II. (PMID: 8550579) Ridderström M … Mannervik B (The Journal of biological chemistry 1996) 3 4 22 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 MW (Biochemistry 2009) 3 22 58

Products for HAGH Gene

Sources for HAGH Gene

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