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Aliases for CHAC1 Gene

Aliases for CHAC1 Gene

  • ChaC Glutathione Specific Gamma-Glutamylcyclotransferase 1 2 3 5
  • Gamma-GCT Acting On Glutathione Homolog 1 2 3
  • Blocks Notch Protein 3 4
  • Gamma-GCG 1 3 4
  • Botch 3 4
  • Glutathione-Specific Gamma-Glutamylcyclotransferase 1 3
  • ChaC, Cation Transport Regulator Homolog 1 (E. Coli) 2
  • ChaC, Cation Transport Regulator Homolog 1 3
  • Cation Transport Regulator-Like Protein 1 4
  • ChaC, Cation Transport Regulator-Like 1 3
  • EC 2.3.2.- 4

External Ids for CHAC1 Gene

Previous GeneCards Identifiers for CHAC1 Gene

  • GC15P039033
  • GC15P041245
  • GC15P018094

Summaries for CHAC1 Gene

Entrez Gene Summary for CHAC1 Gene

  • This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]

GeneCards Summary for CHAC1 Gene

CHAC1 (ChaC Glutathione Specific Gamma-Glutamylcyclotransferase 1) is a Protein Coding gene. Among its related pathways are Cytochrome P450 - arranged by substrate type and Glutathione metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups and Notch binding. An important paralog of this gene is CHAC2.

UniProtKB/Swiss-Prot for CHAC1 Gene

  • Catalyzes the cleavage glutathione into 5-oxoproline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides. Glutathione depletion is an important factor for apoptosis initiation and execution (PubMed:23070364). Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade (PubMed:19109178). Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos (PubMed:22445366).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHAC1 Gene

Genomics for CHAC1 Gene

Regulatory Elements for CHAC1 Gene

Enhancers for CHAC1 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
GH15G040927 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.1 -22.0 -22022 6.5 PKNOX1 FOXA2 DMAP1 ZNF2 ZBTB7B ZNF143 FOS ZNF263 SP3 SP5 CHAC1 SPINT1 NDUFAF1 DISP2 DLL4 NUSAP1 GC15M040883
GH15G040905 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -46.0 -46042 3.7 HDGF ATF1 AGO1 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 CHAC1 RHOV CHP1 EXD1 DLL4 ENSG00000251161
GH15G040909 1.3 Ensembl ENCODE dbSUPER 11.7 -42.2 -42229 2.4 ELF3 ZNF48 RARA YY1 THAP11 CEBPB ZNF398 NR2F2 CEBPA ETV4 CHAC1 SPINT1 CHP1 EXD1 ZFYVE19 ENSG00000251161 DLL4
GH15G040090 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.6 -852.6 -852604 18.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 DNAJC17 ENSG00000259211 BMF CHST14 SRP14-AS1 SRP14 RAD51-AS1 PLCB2 BUB1B EIF2AK4
GH15G040742 1.2 Ensembl ENCODE 10 -207.0 -207039 7.4 PKNOX1 FOXA2 ATF1 ARID4B SIN3A TCF12 ZNF121 ZNF766 ELK1 FOS C15orf57 RAD51 C15orf62 DNAJC17 ZFYVE19 RAD51-AS1 SPINT1 RHOV VPS18 ENSG00000251161
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHAC1 on UCSC Golden Path with GeneCards custom track

Promoters for CHAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075590 438 1201 PKNOX1 CREB3L1 SIN3A ZNF766 FOS KLF13 DEK SP3 ZHX2 REST

Genomic Location for CHAC1 Gene

Chromosome:
15
Start:
40,952,962 bp from pter
End:
40,956,519 bp from pter
Size:
3,558 bases
Orientation:
Plus strand

Genomic View for CHAC1 Gene

Genes around CHAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHAC1 Gene

Proteins for CHAC1 Gene

  • Protein details for CHAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUX1-CHAC1_HUMAN
    Recommended name:
    Glutathione-specific gamma-glutamylcyclotransferase 1
    Protein Accession:
    Q9BUX1
    Secondary Accessions:
    • Q0VIA0

    Protein attributes for CHAC1 Gene

    Size:
    264 amino acids
    Molecular mass:
    28747 Da
    Quaternary structure:
    • Interacts with NOTCH1 (via extracellular region).
    SequenceCaution:
    • Sequence=AAH01683.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH01847.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH19625.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAW23972.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CHAC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHAC1 Gene

Post-translational modifications for CHAC1 Gene

  • Ubiquitination at Lys151
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHAC1 Gene

Domains & Families for CHAC1 Gene

Protein Domains for CHAC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHAC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BUX1

UniProtKB/Swiss-Prot:

CHAC1_HUMAN :
  • Belongs to the gamma-glutamylcyclotransferase family. ChaC subfamily.
Family:
  • Belongs to the gamma-glutamylcyclotransferase family. ChaC subfamily.
genes like me logo Genes that share domains with CHAC1: view

No data available for Gene Families for CHAC1 Gene

Function for CHAC1 Gene

Molecular function for CHAC1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.13 mM for glutathione {ECO:0000269 PubMed:23070364}; Vmax=980 umol/h/mg enzyme {ECO:0000269 PubMed:23070364};
UniProtKB/Swiss-Prot CatalyticActivity:
Glutathione = 5-oxoproline + cysteinylglycine.
UniProtKB/Swiss-Prot Function:
Catalyzes the cleavage glutathione into 5-oxoproline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides. Glutathione depletion is an important factor for apoptosis initiation and execution (PubMed:23070364). Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade (PubMed:19109178). Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos (PubMed:22445366).
UniProtKB/Swiss-Prot Induction:
Induced by chemical activators of the unfolded protein response (UPR) such as tunicamycin, DTT and thapsigargin.

Enzyme Numbers (IUBMB) for CHAC1 Gene

Gene Ontology (GO) - Molecular Function for CHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003839 gamma-glutamylcyclotransferase activity TAS --
GO:0005112 Notch binding ISS --
GO:0005515 protein binding IPI 16189514
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with CHAC1: view
genes like me logo Genes that share phenotypes with CHAC1: view

Animal Model Products

CRISPR Products

miRNA for CHAC1 Gene

miRTarBase miRNAs that target CHAC1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CHAC1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHAC1 Gene

Localization for CHAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHAC1 Gene

Cytoplasm, cytosol. Golgi apparatus, trans-Golgi network.

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 CHAC1 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
mitochondrion 3
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CHAC1: view

Pathways & Interactions for CHAC1 Gene

genes like me logo Genes that share pathways with CHAC1: view

Pathways by source for CHAC1 Gene

Interacting Proteins for CHAC1 Gene

Gene Ontology (GO) - Biological Process for CHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006750 glutathione biosynthetic process TAS --
GO:0006751 glutathione catabolic process IBA --
GO:0006915 apoptotic process IEA --
GO:0006986 response to unfolded protein IEA --
GO:0007219 Notch signaling pathway IEA --
genes like me logo Genes that share ontologies with CHAC1: view

No data available for SIGNOR curated interactions for CHAC1 Gene

Drugs & Compounds for CHAC1 Gene

No Compound Related Data Available

Transcripts for CHAC1 Gene

Unigene Clusters for CHAC1 Gene

ChaC, cation transport regulator homolog 1 (E. coli):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CHAC1

Alternative Splicing Database (ASD) splice patterns (SP) for CHAC1 Gene

No ASD Table

Relevant External Links for CHAC1 Gene

GeneLoc Exon Structure for
CHAC1
ECgene alternative splicing isoforms for
CHAC1

Expression for CHAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHAC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHAC1 Gene

This gene is overexpressed in Muscle - Skeletal (x13.8).

Protein differential expression in normal tissues from HIPED for CHAC1 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHAC1 Gene



Protein tissue co-expression partners for CHAC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHAC1 Gene:

CHAC1

SOURCE GeneReport for Unigene cluster for CHAC1 Gene:

Hs.155569

Evidence on tissue expression from TISSUES for CHAC1 Gene

  • Liver(4.1)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with CHAC1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHAC1 Gene

Orthologs for CHAC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHAC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHAC1 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia CHAC1 35
  • 92 (a)
OneToOne
LOC487504 34
  • 89.1 (n)
cow
(Bos Taurus)
Mammalia CHAC1 34 35
  • 88.28 (n)
rat
(Rattus norvegicus)
Mammalia Chac1 34
  • 86.04 (n)
mouse
(Mus musculus)
Mammalia Chac1 34 16 35
  • 83.93 (n)
oppossum
(Monodelphis domestica)
Mammalia CHAC1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHAC1 34 35
  • 69 (n)
lizard
(Anolis carolinensis)
Reptilia CHAC1 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chac1 34
  • 66.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12642 34
zebrafish
(Danio rerio)
Actinopterygii chac1 34 35
  • 63.43 (n)
Dr.24239 34
fruit fly
(Drosophila melanogaster)
Insecta CG10365 35
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F22F7.7 34 35
  • 50.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 27 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.9452 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3881 35
  • 31 (a)
OneToOne
Species where no ortholog for CHAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CHAC1 Gene

ENSEMBL:
Gene Tree for CHAC1 (if available)
TreeFam:
Gene Tree for CHAC1 (if available)

Paralogs for CHAC1 Gene

Paralogs for CHAC1 Gene

(1) SIMAP similar genes for CHAC1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CHAC1: view

Variants for CHAC1 Gene

Sequence variations from dbSNP and Humsavar for CHAC1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs193920914 Uncertain significance 40,955,384(+) ACTTG(A/G)GGCGT reference, stop-gained
rs1000024421 -- 40,944,976(+) GCAGA(C/T)ACACT utr-variant-5-prime
rs1000115275 -- 40,944,353(+) GTTTT(A/C)TGAGG intron-variant, utr-variant-5-prime
rs1000277707 -- 40,944,034(+) GACTT(C/G)TTGGA intron-variant, utr-variant-5-prime
rs1000391416 -- 40,941,687(+) CTGCG(C/T)CCTCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CHAC1 Gene

Variant ID Type Subtype PubMed ID
nsv1504 CNV insertion 18451855

Variation tolerance for CHAC1 Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHAC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHAC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHAC1 Gene

Disorders for CHAC1 Gene

Relevant External Links for CHAC1

Human Genome Epidemiology (HuGE) Navigator
CHAC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHAC1

No disorders were found for CHAC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHAC1 Gene

Publications for CHAC1 Gene

  1. Mammalian proapoptotic factor ChaC1 and its homologues function as I^-glutamyl cyclotransferases acting specifically on glutathione. (PMID: 23070364) Kumar A. … Bachhawat A.K. (EMBO Rep. 2012) 2 3 4 64
  2. CHAC1/MGC4504 is a novel proapoptotic component of the unfolded protein response, downstream of the ATF4-ATF3-CHOP cascade. (PMID: 19109178) Mungrue I.N. … Lusis A.J. (J. Immunol. 2009) 3 4 22 64
  3. Botch promotes neurogenesis by antagonizing Notch. (PMID: 22445366) Chi Z. … Dawson V.L. (Dev. Cell 2012) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human CHAC1 Protein Degrades Glutathione, and mRNA Induction Is Regulated by the Transcription Factors ATF4 and ATF3 and a Bipartite ATF/CRE Regulatory Element. (PMID: 25931127) Crawford R.R. … Mungrue I.N. (J. Biol. Chem. 2015) 3 64

Products for CHAC1 Gene

  • Addgene plasmids for CHAC1

Sources for CHAC1 Gene

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