Seroatlas · Human Serome Atlas

CHAC1

Glutathione-specific gamma-glutamylcyclotransferase 1

Also known as: CHAC1_HUMAN, MGC4504

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BUX1
Gene: CHAC1
Ensembl: ENSG00000128965
Chromosome: 15
Canonical length: 222 aa
Protein class: Enzymes, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

222 residues, UniProt reviewed canonical sequence.

>Q9BUX1|CHAC1
     1  MKQESAAPNT PPTSQSPTPS AQFPRNDGDP QALWIFGYGS LVWRPDFAYS DSRVGFVRGY
    61  SRRFWQGDTF HRGSDKMPGR VVTLLEDHEG CTWGVAYQVQ GEQVSKALKY LNVREAVLGG
   121  YDTKEVTFYP QDAPDQPLKA LAYVATPQNP GYLGPAPEEA IATQILACRG FSGHNLEYLL
   181  RLADFMQLCG PQAQDEHLAA IVDAVGTMLP CFCPTEQALA LV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHAC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 108 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 108 nTPM
pancreas: 65 nTPM
liver: 23 nTPM
esophagus: 22 nTPM
adipose tissue: 17 nTPM
stomach: 14 nTPM

Single-cell type

epicardial cells: 125 nCPM
esophageal apical cells: 69 nCPM
mesothelial cells: 31 nCPM
gastric chief cells: 24 nCPM
foveolar cells: 23 nCPM
epididymal principal cells: 19 nCPM

Immune cell

gdT-cell: 0.2 nTPM
memory B-cell: 0.2 nTPM
non-classical monocyte: 0.2 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM

Brain region

thalamus: 25 nTPM
pons: 23 nTPM
hypothalamus: 23 nTPM
white matter: 22 nTPM
midbrain: 19 nTPM
medulla oblongata: 15 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.25
gnomAD pLI: 0
gnomAD missense Z: 0.24
DepMap mean gene effect: 0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CHAC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CHAC1 as an antibody target. Whether an autoantibody or antibody against CHAC1 could matter depends on whether native CHAC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHAC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CHAC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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