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    CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 79094, updated on 11-Apr-2024

    Summary

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    Official Symbol
    CHAC1provided by HGNC
    Official Full Name
    ChaC glutathione specific gamma-glutamylcyclotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:28680
    See related
    Ensembl:ENSG00000128965 MIM:614587; AllianceGenome:HGNC:28680
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Broad expression in esophagus (RPKM 2.7), pancreas (RPKM 2.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q15.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40953471..40956512)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38748040..38762447)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41245669..41248710)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41230399-41231215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6353 Neighboring gene delta like canonical Notch ligand 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41244878-41245471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41247897-41248447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41249950-41250486 Neighboring gene iron-sulfur cluster assembly 1 pseudogene 4 Neighboring gene uncharacterized LOC105370789 Neighboring gene NANOG hESC enhancer GRCh37_chr15:41260291-41260942 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:41268087-41269286 Neighboring gene uncharacterized LOC124903476 Neighboring gene INO80 complex ATPase subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CHAC1 as a Novel Contributor of Ferroptosis in Retinal Pigment Epithelial Cells with Oxidative Damage. Liu Y, et al. Int J Mol Sci, 2023 Jan 13. PMID 36675091, Free PMC Article
    2. High levels of unfolded protein response component CHAC1 associates with cancer progression signatures in malignant breast cancer tissues. Mehta V, et al. Clin Transl Oncol, 2022 Dec. PMID 35930144
    3. Ferroptosis-related gene CHAC1 is a valid indicator for the poor prognosis of kidney renal clear cell carcinoma. Li D, et al. J Cell Mol Med, 2021 Apr. PMID 33728749, Free PMC Article
    4. Transcriptomic analysis of the effect of (E)-3-(3,5-dimethoxyphenyl)-1-(2-methoxyphenyl) prop-2-en-1-one (DPP23) on reactive oxygen species generation in MIA PaCa-2 pancreatic cancer cells. Sim H, et al. Genes Genomics, 2020 Nov. PMID 32949369
    5. CHAC1 overexpression in human gastric parietal cells with Helicobacter pylori infection in the secretory canaliculi. Ogawa T, et al. Helicobacter, 2019 Aug. PMID 31111570, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CHAC1 promotes cell ferroptosis and enhances radiation sensitivity in thyroid carcinoma.
      Title: CHAC1 promotes cell ferroptosis and enhances radiation sensitivity in thyroid carcinoma.
    2. CHAC1 exacerbates LPS-induced ferroptosis and apoptosis in HK-2 cells by promoting oxidative stress.
      Title: CHAC1 exacerbates LPS-induced ferroptosis and apoptosis in HK-2 cells by promoting oxidative stress.
    3. CHAC1 as a Novel Contributor of Ferroptosis in Retinal Pigment Epithelial Cells with Oxidative Damage.
      Title: CHAC1 as a Novel Contributor of Ferroptosis in Retinal Pigment Epithelial Cells with Oxidative Damage.
    4. High levels of unfolded protein response component CHAC1 associates with cancer progression signatures in malignant breast cancer tissues.
      Title: High levels of unfolded protein response component CHAC1 associates with cancer progression signatures in malignant breast cancer tissues.
    5. Ferroptosis-related gene CHAC1 is a valid indicator for the poor prognosis of kidney renal clear cell carcinoma.
      Title: Ferroptosis-related gene CHAC1 is a valid indicator for the poor prognosis of kidney renal clear cell carcinoma.
    6. Transcriptomic analysis of the effect of (E)-3-(3,5-dimethoxyphenyl)-1-(2-methoxyphenyl) prop-2-en-1-one (DPP23) on reactive oxygen species generation in MIA PaCa-2 pancreatic cancer cells.
      Title: Transcriptomic analysis of the effect of (E)-3-(3,5-dimethoxyphenyl)-1-(2-methoxyphenyl) prop-2-en-1-one (DPP23) on reactive oxygen species generation in MIA PaCa-2 pancreatic cancer cells.
    7. Significant CHAC1 overexpression was detected in H. pylori-infected parietal cells that expressed the human proton pump/H,K-ATPase alpha subunit.
      Title: CHAC1 overexpression in human gastric parietal cells with Helicobacter pylori infection in the secretory canaliculi.
    8. results suggest that CHAC1 is involved in the regulation of inflammation in bronchial cells during Pseudomonas aeruginosa infection and may explain the excessive inflammation present in the respiratory tracts of patients with cystic fibrosis.
      Title: CHAC1 Is Differentially Expressed in Normal and Cystic Fibrosis Bronchial Epithelial Cells and Regulates the Inflammatory Response Induced by Pseudomonas aeruginosa.
    9. The data revealed that CHAC2 prevented CHAC1-mediated GSH degradation, which suggests that CHAC2 competes with CHAC1 to maintain GSH homeostasis.
      Title: CHAC2 is essential for self-renewal and glutathione maintenance in human embryonic stem cells.
    10. Temozolomide (TMZ)-mediated gene expression profiles and networks are involved in inducing glioblastoma cell death. Increased CHAC1 and reduced Notch3 levels are both also significantly involved in TMZ-mediated cytotoxicity. The TMZ-regulated CHAC1 pathway inhibits Notch3 activation, resulting in attenuation of Notch3-mediated signaling pathways.
      Title: The CHAC1-inhibited Notch3 pathway is involved in temozolomide-induced glioma cytotoxicity.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC4504

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables gamma-glutamylcyclotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables glutathione specific gamma-glutamylcyclotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutathione specific gamma-glutamylcyclotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutathione biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in glutathione catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    glutathione-specific gamma-glutamylcyclotransferase 1
    Names
    ChaC, cation transport regulator homolog 1
    ChaC, cation transport regulator-like 1
    blocks Notch protein
    botch
    gamma-GCG 1
    gamma-GCT acting on glutathione homolog 1
    NP_001136248.2
    NP_077016.3
    XP_054234743.1
    XP_054234744.1
    XP_054234745.1
    XP_054234746.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051562.1 RefSeqGene

      Range
      5034..8075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142776.4 → NP_001136248.2  glutathione-specific gamma-glutamylcyclotransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AY702027, BC001847, BC019625, BQ900544
      Consensus CDS
      CCDS45233.2
      Related
      ENSP00000395466.3, ENST00000444189.7
      Conserved Domains (1) summary
      COG3703
      Location:28 → 159
      ChaC; Cation transport regulator ChaC [Inorganic ion transport and metabolism]

    2. NM_024111.6 → NP_077016.3  glutathione-specific gamma-glutamylcyclotransferase 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC001847, BQ900544
      Consensus CDS
      CCDS10070.3
      UniProtKB/Swiss-Prot
      Q0VIA0, Q9BUX1
      Related
      ENSP00000484644.2, ENST00000617768.5
      Conserved Domains (1) summary
      pfam04752
      Location:33 → 207
      ChaC; ChaC-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40953471..40956512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38748040..38762447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378768.1 → XP_054234743.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    2. XM_054378770.1 → XP_054234745.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    3. XM_054378771.1 → XP_054234746.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    4. XM_054378769.1 → XP_054234744.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUX1.3 GenPept UniProtKB/Swiss-Prot:Q9BUX1

    Gene LinkOut

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