• Gene id: 1103

Gene Summary

• Gene Symbol: CHAT   Gene   UCSC   Ensembl
• Aliases: CHOACTASE, CMS1A, CMS1A2, CMS6
• Gene name: choline O-acetyltransferase
• Alternate names: choline O-acetyltransferase, acetyl CoA:choline O-acetyltransferase, choline acetylase,
• Gene location: 10q11.23 (49609094: 49665103)     Exons: 18     NC_000010.11
• Gene summary(Entrez): 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.
• OMIM: 602120

SNPs

rs8191246

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.82098435A>G
NC_000016.9   g.82132040A>G
NM_002153.3   c.1163A>G
NM_002153.2   c.1163A>G
XR_001751898.2   n.1381A>G
NP_002144.1   p.Ter388Trp|SEQ=[A/G]|GENE=HSD17B2

Protein Summary

• Protein general information: P28329  
  • Name: Choline O acetyltransferase (CHOACTase) (ChAT) (Choline acetylase) (EC 2.3.1.6)
  • Length: 748  
  • Mass: 82536
• Sequence:

  MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTP
  AHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCM
  RHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHF
  PGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPE
  PEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNR
  DSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVL
  VQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIK
  KQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLL
  KDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVP
  NGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP

• Structural information:
  • Interpro: IPR000542  IPR039551  IPR042232  IPR042231  
  • Prosite: PS00439 PS00440
  • PDB: 2FY2 2FY3 2FY4 2FY5
  • PDBsum: 2FY2 2FY3 2FY4 2FY5
  • STRING: ENSP00000337103
• Other Databases: GeneCards:  CHAT  Malacards:  CHAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0004102	choline O-acetyltransferase activity	IBA	molecular function
GO:0008292	acetylcholine biosynthetic process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0042136	neurotransmitter biosynthetic process	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0004102	choline O-acetyltransferase activity	IEA	molecular function
GO:0004102	choline O-acetyltransferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04725	Cholinergic synapse
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome 6	PMID:11172068
Alzheimer's disease	PMID:12401548
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq