Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1103
Gene name Gene Name - the full gene name approved by the HGNC.	Choline O-acetyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHAT
Synonyms (NCBI Gene) Gene synonyms aliases	CHOACTASE, CMS1A, CMS1A2, CMS6
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q11.23
Summary Summary of gene provided in NCBI Entrez 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.

Show/Hide all(28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75466054	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs76570508	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs116071049	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121912815	C>G	Pathogenic	Missense variant, coding sequence variant
rs121912816	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121912817	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912819	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912820	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912821	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912822	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912823	T>C	Pathogenic	Missense variant, coding sequence variant
rs201439531	C>G	Pathogenic	Coding sequence variant, missense variant
rs201479289	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs369251527	C>T	Pathogenic	Coding sequence variant, stop gained
rs376808313	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs560648873	CCT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs753652169	C>A,G,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs760936252	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs764497513	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs769234940	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs772025588	A>C,T	Pathogenic, likely-benign	Stop gained, synonymous variant, intron variant, 5 prime UTR variant, coding sequence variant
rs794727516	C>T	Pathogenic	Stop gained, coding sequence variant
rs1198717023	C>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1272947184	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1279554995	A>G	Likely-pathogenic, uncertain-significance	Intron variant
rs1554802792	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554802808	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1590576560	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017364	hsa-miR-335-5p	Microarray	18185580
MIRT046123	hsa-miR-30b-5p	CLASH	23622248

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
ESR1	Unknown	10037443
ESR2	Unknown	10037443
STAT1	Unknown	12425940

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004102	Function	Choline O-acetyltransferase activity	IBA
GO:0004102	Function	Choline O-acetyltransferase activity	IEA
GO:0004102	Function	Choline O-acetyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	TAS	10861222
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	TAS	10861222
GO:0005829	Component	Cytosol	TAS
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0008292	Process	Acetylcholine biosynthetic process	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IEA

MIM	HGNC	e!Ensembl
118490	1912	ENSG00000070748

Protein

UniProt ID

P28329

Protein name

Choline O-acetyltransferase (CHOACTase) (ChAT) (Choline acetylase) (EC 2.3.1.6)

Protein function

Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

PDB

2FY2 , 2FY3 , 2FY4 , 2FY5 , 7AMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00755	Carn_acyltransf	131 → 719	Choline/Carnitine o-acyltransferase	Family

Sequence

MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPH
PRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMA
AKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQ
QKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLIS
GVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPE
PEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSE
WAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANR
WYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHVTQSSRKLIRADSVSELPAP
RRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQ
LAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLL
KDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQV
PTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRD
LCSLLPPTESKPLATKEKATRPSQGHQP

Sequence length

748

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Cholinergic synapse		Synthesis of PC Acetylcholine Neurotransmitter Release Cycle

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Myasthenia Gravis	familial infantile myasthenia	rs1554802792, rs121912822, rs369251527, rs1590576560, rs121912823, rs372760913, rs1838635262, rs794727516, rs121912815, rs764497513, rs1554802808, rs121912817, rs769234940, rs121912818, rs376808313 View all (7 more)	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C	rs75466054, rs1590576560, rs121912822, rs369251527, rs753652169, rs372760913, rs764497513, rs376808313, rs121912821, rs1279554995	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes nephropathy	N/A	N/A	GWAS

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute cholinergic dysautonomia	Associate	35563582
Alzheimer Disease	Inhibit	1409664, 20164549, 21700583, 8618881
Alzheimer Disease	Associate	16223550, 18322398, 21691765, 21883924, 29759072
Apnea	Associate	26080897
Ataxia	Associate	21948486
Bipolar Disorder	Associate	34387669
Choline Deficiency	Associate	21786365
Colorectal Neoplasms	Associate	18653726, 37828429
Congenital myasthenic syndrome with episodic apnea	Associate	21786365, 29189923
Constipation	Associate	21948486
Deglutition Disorders	Associate	21948486
Dementia	Associate	29343737
Emergence Delirium	Associate	32988381
Epilepsy	Associate	21948486
Esophageal Achalasia	Stimulate	16105888
Kleefstra Syndrome	Associate	39343771
Leiomyoma	Associate	30841718
Lung Neoplasms	Stimulate	25591716
Multiple Sclerosis	Associate	21691765
Muscle Hypotonia	Associate	21948486
Myasthenic Syndromes Congenital	Associate	15381704, 21786365, 26080897, 36308527
Neoplasms	Associate	20233874
Neuroblastoma	Associate	21163949
Nystagmus Pathologic	Associate	21948486
Parkinson Disease	Associate	37013599
Ptosis Hereditary Congenital 2	Associate	21948486
Pulmonary Disease Chronic Obstructive	Stimulate	22440430
Renal Insufficiency	Associate	15381704
Sepsis	Associate	29885947
Sleep Apnea Syndromes	Associate	21948486
Systemic Inflammatory Response Syndrome	Associate	29885947
Vesico Ureteral Reflux	Associate	21948486

CHAT (choline O-acetyltransferase)