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

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CHAC1 promotes cell ferroptosis and enhances radiation sensitivity in thyroid carcinoma.
Title: CHAC1 promotes cell ferroptosis and enhances radiation sensitivity in thyroid carcinoma.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 4.3.2.7

NP_077016.3

EC 4.3.2.7

XP_054234743.1

EC 4.3.2.7

XP_054234744.1

EC 4.3.2.7

XP_054234745.1

EC 4.3.2.7

XP_054234746.1

EC 4.3.2.7

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

NG_051562.1 RefSeqGene

Range

5034..8075

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

40953471..40956512

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

38748040..38762447

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054378768.1 → XP_054234743.1 glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1
XM_054378770.1 → XP_054234745.1 glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1
XM_054378771.1 → XP_054234746.1 glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1
XM_054378769.1 → XP_054234744.1 glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1