Gene table of CHAT : choline O-acetyltransferase

Gene-disease associations table

Disease IDDisease nameSource of annotation with CHATOMIM linkNumber of associated genesgenes
PS601462MYASTHENIC SYNDROME, CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 23LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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Annotation of the gene CHAT

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Cholinergic synapsehsa047255.88
Glycerophospholipid metabolismhsa005646.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Synthesis of PCR-HSA-14831918.73
Phospholipid metabolismR-HSA-14832575.83
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Glycerophospholipid biosynthesisR-HSA-14832066.46
MetabolismR-HSA-14307282.34
Acetylcholine Neurotransmitter Release CycleR-HSA-2646428.89
Neuronal SystemR-HSA-1123164.82
Transmission across Chemical SynapsesR-HSA-1123155.28
Neurotransmitter Release CycleR-HSA-1123107.34
Associated GO terms for Molecular function
GO termGO IDGO IC
choline O-acetyltransferase activityGO:00041029.74
O-acetyltransferase activityGO:00164137.79
cation bindingGO:00431691.4
acetyltransferase activityGO:00164075.1
ion bindingGO:00431671.36
ammonium ion bindingGO:00704055.81
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
choline bindingGO:00332657.95
O-acyltransferase activityGO:00083745.85
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37
bindingGO:00054880.18