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

Gene ID: 79094, updated on 13-Mar-2020

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
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

Genomic context

See CHAC1 in Genome Data Viewer
Location:
15q15.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (40942137..40956518)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41245636..41248717)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370943 Neighboring gene delta like canonical Notch ligand 4 Neighboring gene uncharacterized LOC105370789 Neighboring gene iron-sulfur cluster assembly 1 pseudogene 4 Neighboring gene uncharacterized LOC112268144 Neighboring gene INO80 complex ATPase subunit

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC4504

Gene Ontology Provided by GOA

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

General protein information

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_024305813.1
XP_024305814.1
XP_024305815.1

NCBI Reference Sequences (RefSeq)

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_001142776.4NP_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
    CCDS45233.1
    Related
    ENSP00000395466.3, ENST00000444189.7
    Conserved Domains (1) summary
    cl22886
    Location:33162
    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 ...
  2. NM_024111.6NP_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
    Related
    ENSP00000484644.2, ENST00000617768.5
    Conserved Domains (1) summary
    pfam04752
    Location:33207
    ChaC; ChaC-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    40942137..40956518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450045.1XP_024305813.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    Conserved Domains (1) summary
    pfam04752
    Location:75249
    ChaC; ChaC-like protein
  2. XM_024450047.1XP_024305815.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    Conserved Domains (1) summary
    pfam04752
    Location:75249
    ChaC; ChaC-like protein
  3. XM_024450046.1XP_024305814.1  glutathione-specific gamma-glutamylcyclotransferase 1 isoform X1

    Conserved Domains (1) summary
    pfam04752
    Location:75249
    ChaC; ChaC-like protein
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