Choline acetyltransferase


Choline acetyltransferase
Choline acetyltransferase
Identifiers
EC number 2.3.1.6
CAS number 9012-78-6
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO
Choline O-acetyltransferase

PDB rendering based on 2fy2.
Identifiers
Symbols CHAT; CHOACTASE; CMS1A; CMS1A2
External IDs OMIM118490 MGI88392 HomoloGene40693 GeneCards: CHAT Gene
EC number 2.3.1.6
RNA expression pattern
PBB GE CHAT 221197 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1103 12647
Ensembl ENSG00000070748 ENSMUSG00000021919
UniProt P28329 Q8BQN4
RefSeq (mRNA) NM_001142929.1 NM_009891.2
RefSeq (protein) NP_001136401.1 NP_034021.1
Location (UCSC) Chr 10:
50.82 – 50.9 Mb
Chr 14:
33.22 – 33.28 Mb
PubMed search [1] [2]

Choline acetyltransferase (abbreviated "ChAT") is an enzyme that is synthesized within the body of a neuron. It is then transferred to the nerve terminal via axoplasmic flow. The role of choline acetyltransferase is to join Acetyl-CoA to choline, resulting in the formation of the neurotransmitter acetylcholine.[1] In humans, the choline acetyltransferase enyzme is encoded by the CHAT gene.[2]

Contents

Function

Cholinergic systems are implicated in numerous neurologic functions. Alteration in some cholinergic neurons may account for the disturbances of Alzheimer disease. The protein encoded by this gene synthesizes the neurotransmitter acetylcholine. Alternative splice variants that contain alternative 5' untranslated exons have been found. Three of the four described splice variants encode identical 69 kDa proteins, while one variant encodes both the 69 kDa and a larger 82 kDa protein.[1]

It is often used as an immunohistochemical marker for motor neurons (motoneurons).

See also

References

  1. ^ a b "Entrez Gene: CHAT choline acetyltransferase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1103. 
  2. ^ Strauss WL, Kemper RR, Jayakar P, Kong CF, Hersh LB, Hilt DC, Rabin M (February 1991). "Human choline acetyltransferase gene maps to region 10q11-q22.2 by in situ hybridization". Genomics 9 (2): 396–8. doi:10.1016/0888-7543(91)90273-H. PMID 1840566. 

Further reading

External links

2fy3: Structures of ligand bound human choline acetyltransferase provides insight into regulation of acetylcholine synthesis  
2fy4: Structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis  
2fy5: Structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis