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CHAT Gene

protein-coding   GIFtS: 69
GCID: GC10P050817

Choline O-Acetyltransferase

(Previous name: choline acetyltransferase)
  See CHAT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Choline O-Acetyltransferase1 2     CMS1A2
Choline Acetylase2 3     Acetyl CoA:Choline O-Acetyltransferase2
EC 2.3.1.63 8     CHOACTase3
CMS1A22 5     ChAT3
Choline Acetyltransferase1     EC 2.3.18
CHOACTASE2     

External Ids:    HGNC: 19121   Entrez Gene: 11032   Ensembl: ENSG000000707487   OMIM: 1184905   UniProtKB: P283293   

Export aliases for CHAT gene to outside databases

Previous GC identifers: GC10P049721 GC10P050709 GC10P050161 GC10P050487 GC10P045081


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHAT 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. 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)

GeneCards Summary for CHAT Gene:
CHAT (choline O-acetyltransferase) is a protein-coding gene. Diseases associated with CHAT include chat-related congenital myasthenic syndrome, and congenital myasthenic syndrome with episodic apnea. GO annotations related to this gene include choline O-acetyltransferase activity. An important paralog of this gene is CROT.

UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329
Function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic
synapses

Gene Wiki entry for CHAT (Choline acetyltransferase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHAT gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHAT promoter sequence
   Search Chromatin IP Primers for CHAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q11.2   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11.2

CHAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHAT gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P050817:  view genomic region     (about GC identifiers)

Start:
50,817,141 bp from pter      End:
50,901,925 bp from pter
Size:
84,785 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329 (See protein sequence)
Recommended Name: Choline O-acetyltransferase  
Size: 748 amino acids; 82536 Da
4 PDB 3D structures from and Proteopedia for CHAT:
2FY2 (3D)        2FY3 (3D)        2FY4 (3D)        2FY5 (3D)    
Secondary accessions: A2BDF4 Q16488 Q9BQ23 Q9BQ35 Q9BQE1
Alternative splicing: 3 isoforms:  P28329-1   P28329-2   P28329-3   

Explore the universe of human proteins at neXtProt for CHAT: NX_P28329

Explore proteomics data for CHAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHAT (P28329) (see all 13)
     GRVDNIR  YGKTFIK  LPVPPLQQ  QFVVGRDG 


    See CHAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001136401.1  NP_001136405.1  NP_001136406.1  NP_065574.3  NP_066264.3  NP_066265.3  NP_066266.3  

    ENSEMBL proteins: 
     ENSP00000343486   ENSP00000337103   ENSP00000473443   ENSP00000378929   ENSP00000390521  
     ENSP00000345878   ENSP00000378926  
    Reactome Protein details: P28329

    CHAT Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CHAT 

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    Search eBioscience for ELISAs for CHAT 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry P28329

    ProtoNet protein and cluster: P28329

    1 Blocks protein domain: IPB000542 Acyltransferase ChoActase/COT/CPT

    UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329
    Similarity: Belongs to the carnitine/choline acetyltransferase family


    Find genes that share domains with CHAT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLAT_HUMAN, P28329
    Function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic
    synapses
    Catalytic activity: Acetyl-CoA + choline = CoA + O-acetylcholine

         Genatlas biochemistry entry for CHAT:
    choline acetyltransferase neurotransmitter acetylcholine catalyzing enzyme synthesis,expressed in the brain and
    spinal cord

         Enzyme Numbers (IUBMB): EC 2.3.1.61 2 EC 2.3.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004102choline O-acetyltransferase activity IEA--
    GO:0016746transferase activity, transferring acyl groups ----
         
    Find genes that share ontologies with CHAT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CHAT:
     Increased G1 DNA content 

         10 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Chat):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  normal  reproductive system  skeleton 

    Find genes that share phenotypes with CHAT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CHAT: Chat/Slc18a3Chat/tm1.1Vpra Chattm1Fhg Chattm1.1Jrs

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHAT
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHAT

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    hsa-mir-30b-5p (MIRT046123), hsa-mir-335-5p (MIRT017364)

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    eBioscience FlowRNA Probe Sets ( VA1-11432) for CHAT 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    peroxisome3
    cytoskeleton2
    extracellular2
    mitochondrion2
    plasma membrane2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS10861222
    GO:0005737cytoplasm TAS10861222
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0030424axon IEA--

    Find genes that share ontologies with CHAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHAT About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    Synthesis of PC0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    Acetylcholine Neurotransmitter Release Cycle0.00
    5Circadian entrainment
    Cholinergic synapse0.37


    Find genes that share SuperPaths with CHAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CHAT
        Biogenic Amine Synthesis
    Acetylcholine Synthesis
    SIDS Susceptibility Pathways


    2 Reactome Pathways for CHAT
        Acetylcholine Neurotransmitter Release Cycle
    Synthesis of PC

    1 PharmGKB Pathway for CHAT
        Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    2 Kegg Pathways  (Kegg details for CHAT):
        Glycerophospholipid metabolism
    Cholinergic synapse

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CHAT: 
              Neurogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHAT (P283293 ENSP000003371034) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEDD9Q145113, ENSP000003687594I2D: score=1 STRING: ENSP00000368759
    PRKCBP057713, ENSP000003053554I2D: score=1 STRING: ENSP00000305355
    PRKCDQ056553, ENSP000003316024I2D: score=1 STRING: ENSP00000331602
    PRKCGP051293, ENSP000002634314I2D: score=1 STRING: ENSP00000263431
    PRKCZQ055133, ENSP000003678304I2D: score=1 STRING: ENSP00000367830
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0007274neuromuscular synaptic transmission IEA--

    Find genes that share ontologies with CHAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for CHAT
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHAT (CLAT)

    4 HMDB Compounds for CHAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    AcetylcholineACh (see all 7)51-84-3--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--

    1 DrugBank Compound for CHAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7enzymesubstrate17144655 16131766 17150236 16941497 16541262

    Selected Novoseek inferred chemical compound relationships for CHAT gene (see all 101)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choline 97.7 1685 12486117 (10), 8690205 (9), 1334236 (7), 1721693 (7) (see all 99)
    acetylcholine 85.7 445 16846505 (6), 8967505 (4), 8852430 (3), 15721778 (3) (see all 99)
    (2-benzoylethyl)trimethylammonium iodide 76 2 1933404 (1)
    n-aminodeanol 74.4 1 1574534 (1)
    af 64a 66.3 11 8618417 (3), 12600723 (2), 10640295 (1), 2149667 (1) (see all 5)
    (+-)vesamicol 64.9 3 10579560 (1), 8783231 (1), 2151294 (1)
    trapoxin 61.6 10 9602089 (4), 10207071 (2), 8804715 (1)
    acetyl-coa 56.5 27 16787407 (2), 17144655 (2), 9733738 (1), 16131766 (1) (see all 16)
    glutamate 53.9 55 12739242 (2), 10683406 (2), 7867752 (1), 8797663 (1) (see all 38)
    pre-prosomatostatin 53.7 6 16023618 (2), 8915584 (1), 10582523 (1)



    Find genes that share compounds with CHAT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHAT gene (7 alternative transcripts): 
    NM_001142929.1  NM_001142933.1  NM_001142934.1  NM_020549.4  NM_020984.3  NM_020985.3  NM_020986.3  

    Unigene Cluster for CHAT:

    Choline O-acetyltransferase
    Hs.302002  [show with all ESTs]
    Unigene Representative Sequence: AF305908
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339797(uc001jhv.1) ENST00000460699 ENST00000481336 ENST00000337653(uc001jhz.2)
    ENST00000466590 ENST00000490270 ENST00000395562(uc001jia.2) ENST00000455728
    ENST00000351556(uc001jhx.1 uc010qgs.1) ENST00000395559(uc001jhy.1)

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11432) for CHAT 

    Additional mRNA sequence: 

    AF305907.1 AF305908.2 AF305909.1 AF450452.1 BC130615.1 BC130617.1 D82339.1 D82340.1 
    D82341.1 D82342.1 S45018.1 S56138.1 

    5 DOTS entries:

    DT.100743369  DT.91732308  DT.91732305  DT.91732304  DT.95105700 

    Selected AceView cDNA sequences (see all 32):

    AF305909 D82342 BX102324 BC028127 D82341 AF305908 BV183664 NM_020984 
    NM_020986 BI826396 AI917746 AW665925 AK091773 AI216456 BI825648 AI990484 
    BX280506 D82339 S56138 NM_020985 AF305907 NM_020549 D82340 AX747176 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHAT (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:              -                                                     -                       -                                             
    SP2:        -     -     -                                               -                       -                                             
    SP3:              -     -                                               -                       -                                             
    SP4:                                                                                                                                          
    SP5:                                                                                            -                                             


    ECgene alternative splicing isoforms for CHAT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGACCTCT
    CHAT Expression
    About this image


    CHAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
             Motor neuron-like and interneuron-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 12 entries
             Motor neuron progenitor cells
     
     Motor Neurons (Nervous System)    fully expand to see all 11 entries
             Motor neuron progenitor cells
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    CHAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.302002
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CHAT: 
              Neurogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Alzheimer's Disease in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CHAT gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chat1 , 5 choline acetyltransferase1, 5 85.98(n)1
    88.19(a)1
      14 (19.40 cM)5
    126471  NM_009891.21  NP_034021.11 
     324082035 
    chicken
    (Gallus gallus)
    Aves CHAT1 choline O-acetyltransferase 72.26(n)
    78.01(a)
      395314  NM_204610.1  NP_989941.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHAT6
    choline O-acetyltransferase
    76(a)
    1 ↔ 1
    GL343199.1(3489423-3582746)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chat1 choline O-acetyltransferase 67.19(n)
    74.02(a)
      100485221  XM_002933913.2  XP_002933959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc642202 similar to solute carrier family 18 (vesicular monoamine), member 3 less 77.2(n)   394082  BC054646.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51223
    Cha1
    carnitine O-acetyltransferase3
    Choline acetyltransferase1
    38(a)
    (best of 3)3
    52.59(n)1
    41.58(a)1
      422491  NM_057656.21  NP_477004.51 
    worm
    (Caenorhabditis elegans)
    Secernentea B0395.33
    cha-11
    choline O-acetyltransferase3
    cha-11
    34(a)
    (best of 2)3
    45.84(n)1
    37.52(a)1
      X(16066025-16070026)3
    131926831  NM_001028432.21  NP_001023603.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAT26
    Carnitine acetyl-CoA transferase present in both m...
    28(a)
    1 → many
    XIII(192788-194800) YML042W


    ENSEMBL Gene Tree for CHAT (if available)
    TreeFam Gene Tree for CHAT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHAT gene
    CROT2  CPT1C2  CRAT2  CPT1B2  CPT1A2  
    4 SIMAP similar genes for CHAT using alignment to 5 protein entries:     CLAT_HUMAN (see all proteins):
    ChAT    CRAT    CROT    CPT1B

    Find genes that share paralogs with CHAT           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHAT (see all 1452)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0116674
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116672 P A mis40--------
    VAR_0116724
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116722 S L mis40--------
    rs289300711,2,4
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116662 mis40--------
    VAR_0116744
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116742 R H mis40--------
    VAR_0386054
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0386052 I T mis40--------
    VAR_0116734
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116732 V L mis40--------
    rs289294821,2,4
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116682 mis40--------
    VAR_0116694
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116692 R C mis40--------
    rs289294811,2,4
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116712 mis40--------
    rs289300701,2,4
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116702 mis40--------

    HapMap Linkage Disequilibrium report for CHAT (50817141 - 50901925 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CHAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1348586CNV Insertion17803354
    nsv510217CNV Loss20534489
    nsv895365CNV Loss21882294
    nsv895369CNV Gain21882294
    nsv895375CNV Gain21882294
    nsv895378CNV Gain21882294
    nsv7203OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): CHAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHAT
    DNA2.0 Custom Variant and Variant Library Synthesis for CHAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118490   
    OMIM disorders: 254210  
    UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329
  • Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA) [MIM:254210]: An autosomal
    recessive congenital myasthenic syndrome. Patients have myasthenic symptoms since birth or early infancy,
    negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis,
    and apnea precipitated by undue exertion, fever, or excitement. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 14 diseases for CHAT:    
    About MalaCards
    chat-related congenital myasthenic syndrome    congenital myasthenic syndrome with episodic apnea    tendinosis    amnestic disorder
    olivopontocerebellar atrophy    lewy body dementia    head injury    myasthenic syndrome, congenital, with pre- and postsynaptic defects
    riboflavin deficiency    rett syndrome    multiple system atrophy    huntington's disease
    alzheimer's disease    amyotrophic lateral sclerosis

    9 diseases from the University of Copenhagen DISEASES database for CHAT:
    Alzheimer's disease     Toxic encephalopathy     Brain disease     Huntington's disease
    Amyotrophic lateral sclerosis     Amnestic disorder     Down syndrome     Neuroblastoma
    Cholera

    Find genes that share disorders with CHAT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CHAT gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 79.4 88 15364407 (3), 2166243 (2), 16797789 (2), 2054656 (2) (see all 58)
    myasthenic syndromes congenital 79.1 11 12609506 (3), 12756141 (1), 15381704 (1), 19520274 (1) (see all 7)
    senile plaques 68.8 16 2222780 (1), 18392212 (1), 12590165 (1), 1360195 (1) (see all 12)
    inherited olivopontocerebellar atrophy 61 1 8105030 (1)
    neurofibrillary tangles 60.2 11 2313304 (3), 1374541 (1), 18392212 (1), 10443555 (1) (see all 8)
    neuron loss 59 6 12739242 (1), 17890007 (1), 2375630 (1), 2153271 (1) (see all 5)
    neurodegeneration 58.6 4 18701765 (1), 20034403 (1), 2054656 (1), 15725587 (1)
    dementia 57.5 22 10443555 (3), 9143263 (2), 15364407 (1), 8401788 (1) (see all 13)
    amyotrophic lateral sclerosis 55.2 9 8808298 (2), 1624947 (1), 1515593 (1), 1469422 (1)
    acetylcholinesterase expression 54.2 2 10708910 (1), 8188852 (1)

    GeneTests: CHAT
    GeneReviews: CHAT
    Genetic Association Database (GAD): CHAT
    Human Genome Epidemiology (HuGE) Navigator: CHAT (34 documents)

    Export disorders for CHAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHAT gene, integrated from 10 sources (see all 727):
    (articles sorted by number of sources associating them with CHAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Substrate binding and catalytic mechanism of human choline acetyltransferase. (PubMed id 17144655)1, 2, 7, 9 Kim A.-R.... Shilton B.H. (Biochemistry 2006)
    2. A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells. (PubMed id 1337937)1, 2, 9 Oda Y.... Deguchi T. (Brain Res. Mol. Brain Res. 1992)
    3. Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response. (PubMed id 17503482)1, 4, 9 Mancama D....Arranz M.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    4. Two mRNAs are transcribed from the human gene for choline acetyltransferase. (PubMed id 1388731)1, 2, 9 Lorenzi M.V.... Strauss W.L. (DNA Cell Biol. 1992)
    5. Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions. (PubMed id 1339386)1, 2, 9 Toussaint J.L.... Kempf J. (Genomics 1992)
    6. Alzheimer's disease: case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample. (PubMed id 17503475)1, 4, 9 Piccardi M....Del Zompo M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    7. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. (PubMed id 11172068)1, 2, 9 Ohno K.... Engel A.G. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    8. A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's disease. (PubMed id 16424819)1, 4, 9 Harold D....Jones L. (Pharmacogenet. Genomics 2006)
    9. Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. (PubMed id 15690550)1, 4, 9 Cook L.J....Rubinsztein D.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    10. Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine. (PubMed id 18780301)1, 4, 9 Scacchi R....Corbo R.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1103 HGNC: 1912 AceView: CHAT Ensembl:ENSG00000070748 euGenes: HUgn1103
    ECgene: CHAT Kegg: 1103 H-InvDB: CHAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CHAT[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Choline_acetyltransferase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHAT gene:
    Search GeneIP for patents involving CHAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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