Seroatlas · Human Serome Atlas

CHAT

Choline O-acetyltransferase

Also known as: CLAT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P28329
Gene: CHAT
Ensembl: ENSG00000070748
Chromosome: 10
Canonical length: 748 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

748 residues, UniProt reviewed canonical sequence.

>P28329|CHAT
     1  MGLRTAKKRG LGGGGKWKRE EGGGTRGRRE VRPACFLQSG GRGDPGDVGG PAGNPGCSPH
    61  PRAATRPPPL PAHTPAHTPE WCGAASAEAA EPRRAGPHLC IPAPGLTKTP ILEKVPRKMA
   121  AKTPSSEESG LPKLPVPPLQ QTLATYLQCM RHLVSEEQFR KSQAIVQQFG APGGLGETLQ
   181  QKLLERQEKT ANWVSEYWLN DMYLNNRLAL PVNSSPAVIF ARQHFPGTDD QLRFAASLIS
   241  GVLSYKALLD SHSIPTDCAK GQLSGQPLCM KQYYGLFSSY RLPGHTQDTL VAQNSSIMPE
   301  PEHVIVACCN QFFVLDVVIN FRRLSEGDLF TQLRKIVKMA SNEDERLPPI GLLTSDGRSE
   361  WAEARTVLVK DSTNRDSLDM IERCICLVCL DAPGGVELSD THRALQLLHG GGYSKNGANR
   421  WYDKSLQFVV GRDGTCGVVC EHSPFDGIVL VQCTEHLLKH VTQSSRKLIR ADSVSELPAP
   481  RRLRWKCSPE IQGHLASSAE KLQRIVKNLD FIVYKFDNYG KTFIKKQKCS PDAFIQVALQ
   541  LAFYRLHRRL VPTYESASIR RFQEGRVDNI RSATPEALAF VRAVTDHKAA VPASEKLLLL
   601  KDAIRAQTAY TVMAITGMAI DNHLLALREL ARAMCKELPE MFMDETYLMS NRFVLSTSQV
   661  PTTTEMFCCY GPVVPNGYGA CYNPQPETIL FCISSFHSCK ETSSSKFAKA VEESLIDMRD
   721  LCSLLPPTES KPLATKEKAT RPSQGHQP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHAT 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: 5.1 nTPM

Expression across tissuesHPA

Tissue

placenta: 5.1 nTPM
basal ganglia: 3.7 nTPM
retina: 0.8 nTPM
duodenum: 0.7 nTPM
hypothalamus: 0.5 nTPM
small intestine: 0.5 nTPM

Single-cell type

tuft cells: 404 nCPM
other brain neurons: 28 nCPM
retinal amacrine cells: 27 nCPM
fibroblasts: 5.9 nCPM
early spermatids: 3.7 nCPM
early primary spermatocytes: 1.7 nCPM

Immune cell

memory CD4 T-cell: 0.1 nTPM
plasmacytoid DC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

cerebral cortex: 40 nTPM
pons: 22 nTPM
medulla oblongata: 18 nTPM
midbrain: 12 nTPM
hypothalamus: 7.6 nTPM
basal ganglia: 6.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHAT.

Disease | AllUniProt

Conditions CHAT is implicated in, by any mechanism.

Myasthenic syndrome, congenital, 6, presynaptic (CMS6) MIM:254210

Disease | GeneticClinVar

110 pathogenic / likely-pathogenic of 1,074 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.88
gnomAD pLI: 0
gnomAD missense Z: 0.3
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

choline O-acetyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

CHAT 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 CHAT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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