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Sequence in raw or FASTA format:

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CHAT choline O-acetyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001142929 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001142933 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant S, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001142934 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant S, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_020549 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_020984 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant R, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_020985 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_020986 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N2, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

Gene Symbol CHAT
Entrez Gene ID 1103
Full Name choline O-acetyltransferase
Synonyms CHOACTASE, CMS1A, CMS1A2
General protein information
Preferred Names
choline O-acetyltransferase
Names
choline O-acetyltransferase
choline acetylase
acetyl CoA:choline O-acetyltransferase
NP_001136401.1
NP_001136405.1
NP_001136406.1
NP_065574.3
NP_066264.3
NP_066265.3
NP_066266.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q11.2

Summary 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. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010].
Disorder

MIM: 118490

Myasthenic syndrome, congenital, associated with episodic apnea,

mRNA Protein Product Sequence Price Select
NM_001142929, 218931220 NP_001136401, 218931221 choline O-acetyltransferase isoform 1 ORF Sequence $700.00
NM_001142933, 218931223 NP_001136405, 218931224 choline O-acetyltransferase isoform 3 ORF Sequence $700.00
NM_001142934, 218931225 NP_001136406, 218931226 choline O-acetyltransferase isoform 1 ORF Sequence $700.00
NM_020549, 188595669 NP_065574, 188595670 choline O-acetyltransferase isoform 2 ORF Sequence $700.00
NM_020984, 188595667 NP_066264, 188595668 choline O-acetyltransferase isoform 1 ORF Sequence $700.00
NM_020985, 188595671 NP_066265, 188595672 choline O-acetyltransferase isoform 1 ORF Sequence $700.00
NM_020986, 188595683 NP_066266, 188595684 choline O-acetyltransferase isoform 1 ORF Sequence $700.00
KEGG
hsa00564Glycerophospholipid metabolism
hsa04725Cholinergic synapse
WikiPathways
WP550Biogenic Amine Synthesis
WP528Acetylcholine Synthesis
WP706SIDS Susceptibility Pathways
Reactome
REACT_15309Acetylcholine Neurotransmitter Release Cycle
REACT_13723Neurotransmitter Release Cycle
REACT_13477Transmission across Chemical Synapses
REACT_13685Neuronal System
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_121401Glycerophospholipid biosynthesis
REACT_120870Phospholipid metabolism
REACT_121238Synthesis of PC
Homo sapiens (human)CHATNP_001136405.1
Pan troglodytes (chimpanzee)CHATXP_003339420.1
Macaca mulatta (Rhesus monkey)CHATXP_002805679.1
Canis lupus familiaris (dog)CHATXP_005637542.1
Bos taurus (cattle)CHATXP_002698999.2
Mus musculus (house mouse)ChatNP_034021.1
Rattus norvegicus (Norway rat)ChatNP_001164064.1
Gallus gallus (chicken)CHATNP_989941.1
Danio rerio (zebrafish)chatNP_001124191.1
Drosophila melanogaster (fruit fly)ChaNP_477004.5
Caenorhabditis eleganscha-1NP_001023603.1
Xenopus (Silurana) tropicalis (western clawed frog)chatXP_002933959.1
Process
IDNameEvidence
GO:0006644phospholipid metabolic processTAS
GO:0006656phosphatidylcholine biosynthetic processTAS
GO:0007268synaptic transmissionTAS
GO:0007269neurotransmitter secretionTAS
GO:0007274neuromuscular synaptic transmissionIEA
GO:0007517muscle organ developmentIEA
GO:0007529establishment of synaptic specificity at neuromuscular junctionIEA
GO:0007622rhythmic behaviorIEA
GO:0007628adult walking behaviorIEA
GO:0016358dendrite developmentIEA
GO:0042136neurotransmitter biosynthetic processIEA
GO:0043179rhythmic excitationIEA
GO:0044281small molecule metabolic processTAS
GO:0046474glycerophospholipid biosynthetic processTAS
Component
IDNameEvidence
GO:0005634nucleusTAS
GO:0005737cytoplasmTAS
GO:0005739mitochondrionIEA
GO:0005829cytosolTAS
GO:0030424axonIEA
GO:0043025neuronal cell bodyIEA
Function
IDNameEvidence
GO:0004102choline O-acetyltransferase activityIEA
GeneCards CHAT
UniProt Q6LEN5, D3DX95, P28329, Q6LEN6
Vega OTTHUMG00000018198
MIM 118490
Ensembl ENSG00000070748
HGNC 1912
HPRD 07510

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CHAT gene?

The CHAT gene provides instructions for making a protein called choline acetyltransferase. This protein is located at the ends of nerve cells in specialized areas called presynaptic terminals. Choline acetyltransferase facilitates the production of a molecule called acetylcholine. Acetylcholine is essential for normal muscle movement. When acetylcholine is released from the presynaptic terminal, it attaches (binds) to a receptor protein located in the membrane of muscle cells. When acetylcholine binds to its receptor protein, specialized channels in the receptor then open, allowing certain charged atoms (ions) to flow into and out of muscle cells. The flow of these ions allows for muscle contraction and relaxation, resulting in muscle movement.

Interactant

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