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FLASH GENE

Symbol

CHAT

contributors: mct - updated : 15-10-2013

HGNC name	choline acetyltransferase
HGNC id	1912

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS6 congenital myasthenic syndrome 6 DEL10Q11 chromosome 10q11.2 microdeletion/microduplication
Location	10q11.23      Physical location : 50.817.140 - 50.873.150
Synonym name	choline acetylase
	choline O-acetyltransferase
Synonym symbol(s)	CHOACTase, CMS1A, CMS1A2
EC.number	2.3.1.6

DNA

TYPE	functioning gene
STRUCTURE	56.01 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020984 15 initiation site 2124 NP_066264 70.3 630 - 1995 7616604 5' utr exon R variant R - isoform 1 NM_020985 16 splicing initiation site 2286 NP_066265 70.3 630 - 1995 7616604 variant N1 - isoform 1 5' utr exon N and M part of exon M NM_020986 15 initiation site 2114 NP_066266 70.3 630 - 1995 7616604 variant N2 - isoform 1 5'utr exon N NM_020549 15 - 2458 NP_065574 82.6 748 - 1995 7616604 variant M - isoform 1 and 2 5'utr exon M NM_001142933 16 - 2528 NP_001136405 - 666 - 1995 7616604 variant S NM_001142934 16 - 2528 NP_001136406 - 630 - 1995 7616604 NM_001142929 15 - 2458 NP_001136401 - 630 - 1995 7616604 variant M

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Homo sapiens   spinal cord         Reproductive female system placenta       Mus musculus Respiratory respiratory tract         Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous cholinergic neuron Homo sapiens Respiratory alveolar macrophage Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Chat

Homologene

FAMILY

carnitine/choline acetyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	neurotransmitter catalyzing the reversible synthesis of acetylcholine(ACH) from acetyl CoA and choline at cholinergic synapses
	catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

involvement of histone acetylation in the regulation of choline acetyltransferase gene in neuronal cells

ASSOCIATED DISORDERS

corresponding disease(s)

CMS6 , DEL10Q11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the large striatal interneurons of Huntington disease (HD)

Susceptibility

to Alzheimer disease (AD)

Variant & Polymorphism other	CHAT A/A genotype was associated with earlier onset of AD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS