CHAC2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHAC2provided by HGNC
Official Full Name: ChaC glutathione specific gamma-glutamylcyclotransferase 2provided by HGNC
Primary source: HGNC:HGNC:32363
See related: Ensembl:ENSG00000143942 MIM:617446; AllianceGenome:HGNC:32363
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
Also known as: GCG1
Summary: The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]
Expression: Ubiquitous expression in duodenum (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (53767783..53775196)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (53763988..53771398)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (53994920..54002333)

Chromosome 2 - NC_000002.12 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 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?

E3 ubiquitin ligase RNF148 functions as an oncogene in colorectal cancer by ubiquitination-mediated degradation of CHAC2.
Title: E3 ubiquitin ligase RNF148 functions as an oncogene in colorectal cancer by ubiquitination-mediated degradation of CHAC2.
Structural and Functional Analyses of Human ChaC2 in Glutathione Metabolism.
Title: Structural and Functional Analyses of Human ChaC2 in Glutathione Metabolism.
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.
Results showed for the first time that CHAC2 was degraded by the ubiquitin-proteasome pathway and CHAC2 expression inhibited tumor cell growth, proliferation, migration in vitro and in vivo. Mechanistic study showed that CHAC2 induced mitochondrial apoptosis and autophagy through unfolded protein response.
Title: CHAC2, downregulated in gastric and colorectal cancers, acted as a tumor suppressor inducing apoptosis and autophagy through unfolded protein response.
Human and mouse ChaC2 proteins purified in vitro show 10-20-fold lower catalytic efficiency than ChaC1, although they showed comparable Km values
Title: ChaC2, an Enzyme for Slow Turnover of Cytosolic Glutathione.

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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

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 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

Process	Evidence Code	Pubs
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

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glutathione-specific gamma-glutamylcyclotransferase 2

Names: ChaC cation transport regulator homolog 2; ChaC, cation transport regulator-like 2; cation transport regulator-like protein 2; gamma-GCG 2; gamma-GCT acting on glutathione homolog 2; putative glutathione-specific gamma-glutamylcyclotransferase 2

NP_001008708.1

EC 4.3.2.7

NP_001333056.1

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.

mRNA and Protein(s)

NM_001008708.4 → NP_001008708.1 glutathione-specific gamma-glutamylcyclotransferase 2 isoform 1

See identical proteins and their annotated locations for NP_001008708.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC019239, BC053896

Consensus CDS

CCDS33196.1

UniProtKB/Swiss-Prot

Q8WUX2, Q8WVI8

Related

ENSP00000295304.4, ENST00000295304.5

Conserved Domains (1) summary

pfam04752
Location:1 → 174

ChaC; ChaC-like protein
NM_001346127.1 → NP_001333056.1 glutathione-specific gamma-glutamylcyclotransferase 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AA465572, BC019239, BC053896, HY170056

UniProtKB/Swiss-Prot

Q8WUX2

Conserved Domains (1) summary

cl22886
Location:2 → 118

GGCT_like; GGCT-like domains, also called AIG2-like family. Gamma-glutamyl cyclotransferase (GGCT) catalyzes the formation of pyroglutamic acid (5-oxoproline) from dipeptides containing gamma-glutamyl, and is a dimeric protein. In Homo sapiens, the protein is ...