The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on ... See more...

Aliases for GGCT Gene

Aliases for GGCT Gene

  • Gamma-Glutamylcyclotransferase 2 3 4 5
  • Cytochrome C-Releasing Factor 21 3 4
  • C7orf24 3 4
  • CRF21 3 4
  • Chromosome 7 Open Reading Frame 24 2
  • Gamma -Glutamyl Cyclotransferase 3
  • EC 4.3.2.9 4
  • GCTG 3
  • GGC 3

External Ids for GGCT Gene

Previous HGNC Symbols for GGCT Gene

  • C7orf24
  • GCTG

Previous GeneCards Identifiers for GGCT Gene

  • GC07M030503
  • GC07M030536
  • GC07M030418

Summaries for GGCT Gene

Entrez Gene Summary for GGCT Gene

  • The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for GGCT Gene

GGCT (Gamma-Glutamylcyclotransferase) is a Protein Coding gene. Diseases associated with GGCT include Pancreatic Cystadenocarcinoma and Liver Angiosarcoma. Among its related pathways are Glutathione metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and gamma-glutamylcyclotransferase activity. An important paralog of this gene is ENSG00000281039.

UniProtKB/Swiss-Prot Summary for GGCT Gene

  • Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis.

Additional gene information for GGCT Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGCT Gene

Genomics for GGCT Gene

GeneHancer (GH) Regulatory Elements for GGCT Gene

Promoters and enhancers for GGCT 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
GH07J030501 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 756.1 +0.9 906 4.1 E2F8 SIN3A ZBTB40 SP1 ZBTB6 POLR2A ATF1 FOS CREB1 HCFC1 GGCT GARS-DT ENSG00000226874 ENSG00000235859 NOD1 ENSG00000263683 piR-53338-123 ENSG00000281039 lnc-NOD1-1
GH07J030500 Promoter 0.3 EPDnew 750.6 +4.2 4241 0.1 GGCT piR-53338-123 ENSG00000281039 lnc-NOD1-1
GH07J030493 Enhancer 0.6 ENCODE 0.4 +11.5 11481 0.2 ZNF687 ZNF644 IKZF1 IKZF2 SP1 DPF2 ELF1 NR2F1 HNF4A ZNF217 piR-53338-123 GGCT lnc-NOD1-1
GH07J030494 Enhancer 0.5 Ensembl 0.4 +11.1 11140 0.2 ZNF687 IKZF1 SP1 DPF2 NR2F1 HNF4A ZNF217 piR-53338-123 GGCT lnc-NOD1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGCT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GGCT gene promoter:
  • AML1a
  • C/EBPbeta
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-3
  • HNF-1
  • HNF-1A
  • TBP
  • XBP-1

Genomic Locations for GGCT Gene

Genomic Locations for GGCT Gene
chr7:30,496,621-30,504,841
(GRCh38/hg38)
Size:
8,221 bases
Orientation:
Minus strand
chr7:30,536,237-30,591,095
(GRCh37/hg19)
Size:
54,859 bases
Orientation:
Minus strand

Genomic View for GGCT Gene

Genes around GGCT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GGCT Gene

Proteins for GGCT Gene

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

    Protein Symbol:
    O75223-GGCT_HUMAN
    Recommended name:
    Gamma-glutamylcyclotransferase
    Protein Accession:
    O75223
    Secondary Accessions:
    • B2RDN0
    • B8ZZN4
    • B8ZZR8
    • Q9BS37

    Protein attributes for GGCT Gene

    Size:
    188 amino acids
    Molecular mass:
    21008 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GGCT Gene

    Alternative splice isoforms for GGCT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGCT Gene

Post-translational modifications for GGCT Gene

  • Ubiquitination at Lys140
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GGCT Gene

Domains & Families for GGCT Gene

Gene Families for GGCT Gene

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

Protein Domains for GGCT Gene

Suggested Antigen Peptide Sequences for GGCT Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c-releasing factor 21 (GGCT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75223

UniProtKB/Swiss-Prot:

GGCT_HUMAN :
  • Belongs to the gamma-glutamylcyclotransferase family.
Family:
  • Belongs to the gamma-glutamylcyclotransferase family.
genes like me logo Genes that share domains with GGCT: view

Function for GGCT Gene

Molecular function for GGCT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alpha-(gamma-L-glutamyl)-L-amino acid = 5-oxo-L-proline + an L-alpha-amino acid; Xref=Rhea:RHEA:20505, ChEBI:CHEBI:58402, ChEBI:CHEBI:59869, ChEBI:CHEBI:71304; EC=4.3.2.9;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.0 mM for gamma-glutamyl-L-alanine; Vmax=50.3 umol/min/mg enzyme;
UniProtKB/Swiss-Prot Induction:
By geranylgeraniol.

Enzyme Numbers (IUBMB) for GGCT Gene

Gene Ontology (GO) - Molecular Function for GGCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003839 gamma-glutamylcyclotransferase activity IDA 18515354
GO:0016829 lyase activity IEA --
GO:0042803 protein homodimerization activity IDA 17932939
genes like me logo Genes that share ontologies with GGCT: view
genes like me logo Genes that share phenotypes with GGCT: view

Animal Model Products

CRISPR Products

miRNA for GGCT Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGCT

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GGCT Gene

Localization for GGCT Gene

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 GGCT gene
Compartment Confidence
cytosol 5
nucleus 2
golgi apparatus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GGCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GGCT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GGCT Gene

Pathways & Interactions for GGCT Gene

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

Pathways by source for GGCT Gene

1 GeneGo (Thomson Reuters) pathway for GGCT Gene

Gene Ontology (GO) - Biological Process for GGCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001836 release of cytochrome c from mitochondria IMP 16765912
GO:0006750 glutathione biosynthetic process TAS --
genes like me logo Genes that share ontologies with GGCT: view

No data available for SIGNOR curated interactions for GGCT Gene

Drugs & Compounds for GGCT Gene

(3) Drugs for GGCT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pidolic acid Approved, Investigational Pharma 0
L-Cysteine Approved Nutra 0
gamma-Glutamylcysteine Experimental Pharma 0

(1) Additional Compounds for GGCT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Oxoprolinate
  • 2-Pyrrolidone-5-carboxylic acid
  • 5-oxo-DL-Proline
  • 5-Pyrrolidone-2-carboxylic acid
  • Glp
  • Pyroglutamate
4042-36-8
genes like me logo Genes that share compounds with GGCT: view

Transcripts for GGCT Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGCT

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e
SP1: - - -
SP2: -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - -
SP7: - -

Relevant External Links for GGCT Gene

GeneLoc Exon Structure for
GGCT
ECgene alternative splicing isoforms for
GGCT

Expression for GGCT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GGCT Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.0) and Oral epithelium (6.7).

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



Protein tissue co-expression partners for GGCT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GGCT Gene:

GGCT

SOURCE GeneReport for Unigene cluster for GGCT Gene:

Hs.530024

Evidence on tissue expression from TISSUES for GGCT Gene

  • Skin(4.6)
  • Lung(4.5)
  • Kidney(4.4)
  • Muscle(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with GGCT: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGCT Gene

Orthologs for GGCT Gene

This gene was present in the common ancestor of animals.

Orthologs for GGCT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGCT 33 32
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GGCT 33 32
  • 89.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GGCT 33 32
  • 89.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ggct 17 33 32
  • 84.95 (n)
rat
(Rattus norvegicus)
Mammalia Ggct 32
  • 84.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GGCT 33
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GGCT 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GGCT 33 32
  • 75.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GGCT 33
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ggctb 32
  • 58.28 (n)
ggcta 33
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32196 33 32
  • 52.15 (n)
OneToMany
CG4306 33
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010447 32
  • 51.55 (n)
worm
(Caenorhabditis elegans)
Secernentea C44B7.7 33 32
  • 52.35 (n)
OneToOne
Species where no ortholog for GGCT 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GGCT Gene

ENSEMBL:
Gene Tree for GGCT (if available)
TreeFam:
Gene Tree for GGCT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGCT: view image

Paralogs for GGCT Gene

Paralogs for GGCT Gene

Pseudogenes.org Pseudogenes for GGCT Gene

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

Variants for GGCT Gene

Sequence variations from dbSNP and Humsavar for GGCT Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000081672 -- 30,506,493(-) G/A upstream_transcript_variant
rs1000630186 -- 30,506,809(-) T/C upstream_transcript_variant
rs1000729865 -- 30,501,299(-) A/G intron_variant
rs1000801711 -- 30,501,465(-) C/G intron_variant
rs1000916490 -- 30,506,654(-) C/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2456067 CNV deletion 19546169
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv5684 CNV insertion 18451855

Variation tolerance for GGCT Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGCT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GGCT Gene

MalaCards: The human disease database

(7) MalaCards diseases for GGCT Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreatic cystadenocarcinoma
  • cystadenocarcinoma of pancreas
liver angiosarcoma
  • angiosarcoma of liver
fructose-1,6-bisphosphatase deficiency
  • fbp1d
hemoglobin c disease
  • hb-c disease
hypochondrogenesis
  • achondrogenesis type ii/hypochondrogenesis
- elite association - COSMIC cancer census association via MalaCards
Search GGCT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GGCT

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 GGCT: view

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

Publications for GGCT Gene

  1. The identification and structural characterization of C7orf24 as gamma-glutamyl cyclotransferase. An essential enzyme in the gamma-glutamyl cycle. (PMID: 18515354) Oakley AJ … Board PG (The Journal of biological chemistry 2008) 2 3 4 56
  2. Crystal structure of Homo sapiens protein LOC79017. (PMID: 17932939) Bae E … Phillips GN (Proteins 2008) 2 3 4 56
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 43 56
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 43 56
  5. A novel 21-kDa cytochrome c-releasing factor is generated upon treatment of human leukemia U937 cells with geranylgeraniol. (PMID: 16765912) Masuda Y … Nakaya K (Biochemical and biophysical research communications 2006) 3 4 56

Products for GGCT Gene

Sources for GGCT Gene