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Aliases for GGH Gene

Aliases for GGH Gene

  • Gamma-Glutamyl Hydrolase 2 3 5
  • Gamma-Glu-X Carboxypeptidase 3 4
  • Conjugase 2 4
  • GH 3 4
  • Gamma-Glutamyl Hydrolase (Conjugase, Folylpolygammaglutamyl Hydrolase) 3
  • Folylpolygammaglutamyl Hydrolase 2
  • EC 3.4.19.9 4

External Ids for GGH Gene

Previous GeneCards Identifiers for GGH Gene

  • GC08M063291
  • GC08M063867
  • GC08M063650
  • GC08M063977
  • GC08M064090
  • GC08M059415
  • GC08M063928

Summaries for GGH Gene

Entrez Gene Summary for GGH Gene

  • This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]

GeneCards Summary for GGH Gene

GGH (Gamma-Glutamyl Hydrolase) is a Protein Coding gene. Diseases associated with GGH include Methotrexate Toxicity Or Dose Selection and Tropical Sprue. Among its related pathways are Innate Immune System and One carbon pool by folate. GO annotations related to this gene include hydrolase activity and exopeptidase activity.

UniProtKB/Swiss-Prot for GGH Gene

  • Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates.

Gene Wiki entry for GGH Gene

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

Genomics for GGH Gene

Regulatory Elements for GGH Gene

Enhancers for GGH 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
GH08G063007 1.1 Ensembl ENCODE 53.8 +29.9 29863 3.9 TBP NFIB ZBTB7B RAD21 RARA YY1 CEBPB NR2F2 ZNF217 ZNF579 GGH ENSG00000240915 UG0898H09
GH08G063038 1.1 ENCODE 20.4 +0.3 334 2.0 HDGF FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 GGH TTPA GC08P063039
GH08G063032 0.9 FANTOM5 ENCODE 8.8 +6.6 6552 0.2 MAFG NFE2 NFE2L2 YTHDF3 GGH ENSG00000253121 GC08P063039
GH08G063146 0.9 Ensembl ENCODE 8.4 -107.5 -107545 1.0 MAFG ELF1 GABPA ZNF316 ZNF512 FOXP2 MAFK EMSY SPI1 GGH ENSG00000261542 GC08P063145 GC08P063153 PIR39522 GC08P063158 GC08P063157 GC08P063156 GC08P063155 GC08P063154
GH08G062690 0.7 ENCODE 7 +348.9 348875 1.1 CTCF TEAD1 ZFP64 ZNF140 ZNF426 ZNF394 ZNF623 ZNF781 RAD21 ZNF518A GGH PIR58504 GC08P062854
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GGH on UCSC Golden Path with GeneCards custom track

Promoters for GGH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225233 445 2001 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 ZNF143

Genomic Location for GGH Gene

Chromosome:
8
Start:
63,015,079 bp from pter
End:
63,039,445 bp from pter
Size:
24,367 bases
Orientation:
Minus strand

Genomic View for GGH Gene

Genes around GGH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GGH Gene

Proteins for GGH Gene

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

    Protein Symbol:
    Q92820-GGH_HUMAN
    Recommended name:
    Gamma-glutamyl hydrolase
    Protein Accession:
    Q92820

    Protein attributes for GGH Gene

    Size:
    318 amino acids
    Molecular mass:
    35964 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GGH Gene

neXtProt entry for GGH Gene

Post-translational modifications for GGH Gene

  • Ubiquitination at isoforms=212, isoforms=235, isoforms=253, and isoforms=287
  • Glycosylation at Asn116, isoforms=163, isoforms=203, and Asn307
  • Modification sites at PhosphoSitePlus

Other Protein References for GGH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GGH Gene

Domains & Families for GGH Gene

Protein Domains for GGH Gene

Suggested Antigen Peptide Sequences for GGH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92820

UniProtKB/Swiss-Prot:

GGH_HUMAN :
  • Belongs to the peptidase C26 family.
Family:
  • Belongs to the peptidase C26 family.
genes like me logo Genes that share domains with GGH: view

No data available for Gene Families for GGH Gene

Function for GGH Gene

Molecular function for GGH Gene

GENATLAS Biochemistry:
gammaglutamyl hydrolase,involved in the metabolism of folic acid
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of a gamma-glutamyl bond.
UniProtKB/Swiss-Prot Function:
Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates.

Enzyme Numbers (IUBMB) for GGH Gene

Gene Ontology (GO) - Molecular Function for GGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008238 exopeptidase activity TAS 8816764
GO:0008242 omega peptidase activity TAS 8816764
GO:0016787 hydrolase activity IEA --
GO:0034722 gamma-glutamyl-peptidase activity IEA,IDA 11005824
genes like me logo Genes that share ontologies with GGH: view
genes like me logo Genes that share phenotypes with GGH: view

Animal Model Products

CRISPR Products

miRNA for GGH Gene

miRTarBase miRNAs that target GGH

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GGH

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

Localization for GGH Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGH Gene

Secreted, extracellular space. Lysosome. Melanosome. Note=While its intracellular location is primarily the lysosome, most of the enzyme activity is secreted. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:12643545}.

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 GGH gene
Compartment Confidence
extracellular 5
nucleus 5
lysosome 5
cytosol 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 25645918
GO:0005634 nucleus IDA 21630459
GO:0005764 lysosome IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with GGH: view

Pathways & Interactions for GGH Gene

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

Gene Ontology (GO) - Biological Process for GGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006541 glutamine metabolic process IEA --
GO:0010043 response to zinc ion IEA --
GO:0032868 response to insulin IEA --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with GGH: view

No data available for SIGNOR curated interactions for GGH Gene

Drugs & Compounds for GGH Gene

(14) Drugs for GGH Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Enzyme, substrate Folate antagonist,inhibits DFHR 1551
Folic Acid Approved, Vet_approved Nutra Enzyme, substrate 4392
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2020
Pemetrexed Approved, Investigational Pharma TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates 636
Tetrahydrofolic acid Approved Nutra 0

(10) Additional Compounds for GGH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Tetrahydrofolyl-[Glu](2)
  • Tetrahydrofolyl-[Glu](2)
  • Tetrahydrofolyl-[Glu](N+1)
  • Tetrahydropteroyl-[gamma-Glu]N
  • Tetrahydropteroyl-[gamma-Glu]N+1
  • THF-L-glutamate
Tetrahydrofolyl-[Glu](n)
  • Tetrahydrofolyl-[Glu](N+1)
  • Tetrahydropteroyl-[gamma-Glu]N
  • Tetrahydropteroyl-[gamma-Glu]N+1
  • THF-L-Glutamic acid
  • THF-polyglutamate
genes like me logo Genes that share compounds with GGH: view

Transcripts for GGH Gene

Unigene Clusters for GGH Gene

Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GGH

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

No ASD Table

Relevant External Links for GGH Gene

GeneLoc Exon Structure for
GGH
ECgene alternative splicing isoforms for
GGH

Expression for GGH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GGH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GGH Gene

This gene is overexpressed in Liver (x9.7).

Protein differential expression in normal tissues from HIPED for GGH Gene

This gene is overexpressed in Urine (24.9) and Serum (10.1).

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



Protein tissue co-expression partners for GGH Gene

NURSA nuclear receptor signaling pathways regulating expression of GGH Gene:

GGH

SOURCE GeneReport for Unigene cluster for GGH Gene:

Hs.78619

Evidence on tissue expression from TISSUES for GGH Gene

  • Liver(4.6)
  • Skin(4.2)
  • Nervous system(2.9)
  • Kidney(2.5)
  • Intestine(2.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with GGH: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGH Gene

Orthologs for GGH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GGH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGH 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia GGH 34 35
  • 86.13 (n)
cow
(Bos Taurus)
Mammalia GGH 34 35
  • 82.29 (n)
mouse
(Mus musculus)
Mammalia Ggh 34 16 35
  • 77.74 (n)
rat
(Rattus norvegicus)
Mammalia Ggh 34
  • 76.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GGH 35
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GGH 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves GGH 34 35
  • 63.79 (n)
lizard
(Anolis carolinensis)
Reptilia GGH 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ggh 34
  • 65.61 (n)
Str.11987 34
zebrafish
(Danio rerio)
Actinopterygii ggh 34 35
  • 60 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5979 34
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Dp 34 35
  • 49.53 (n)
l(3)72Dr 35
  • 26 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006670 34
  • 48.62 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GGH3 34
  • 48.2 (n)
rice
(Oryza sativa)
Liliopsida Os05g0517500 34
  • 46.26 (n)
Species where no ortholog for GGH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GGH Gene

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

Paralogs for GGH Gene

No data available for Paralogs for GGH Gene

Variants for GGH Gene

Sequence variations from dbSNP and Humsavar for GGH Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000018736 -- 63,038,515(+) CCCAG(C/T)CCGGG intron-variant
rs1000117943 -- 63,016,851(+) TTTAT(G/T)TGCTT intron-variant
rs1000376916 -- 63,026,830(+) AAGAA(C/T)AGATT intron-variant
rs1000399320 -- 63,017,208(+) AAAGA(A/G)AAAGA intron-variant
rs1000673791 -- 63,023,263(+) ATAAA(C/T)ACTCA intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv1018879 CNV gain 25217958
nsv611448 CNV loss 21841781
nsv6227 CNV deletion 18451855

Variation tolerance for GGH Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.74; 89.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GGH Gene

Human Gene Mutation Database (HGMD)
GGH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGH

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

Disorders for GGH Gene

MalaCards: The human disease database

(2) MalaCards diseases for GGH Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methotrexate toxicity or dose selection
tropical sprue
  • sprue - tropical
- elite association - COSMIC cancer census association via MalaCards
Search GGH in MalaCards View complete list of genes associated with diseases

Relevant External Links for GGH

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

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

Publications for GGH Gene

  1. Characterization of human gamma-glutamyl hydrolase in solution demonstrates that the enzyme is a non-dissociating homodimer. (PMID: 16945597) Eisele L.E. … Ryan T.J. (Biochim. Biophys. Acta 2006) 3 4 22 25 64
  2. Structural organization of the human gamma-glutamyl hydrolase gene. (PMID: 10570974) Yin D. … Yao R. (Gene 1999) 2 3 4 22 64
  3. Human gamma-glutamyl hydrolase: cloning and characterization of the enzyme expressed in vitro. (PMID: 8816764) Yao R. … Galivan J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 22 64
  4. Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426. (PMID: 19841321) Adjei A.A. … Zinner R.G. (J. Clin. Oncol. 2010) 3 22 46 64
  5. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. (PMID: 19016697) Warren R.B. … Griffiths C.E. (Br. J. Dermatol. 2009) 3 22 46 64

Products for GGH Gene

  • Addgene plasmids for GGH

Sources for GGH Gene

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