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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHAT Gene

protein-coding   GIFtS: 69
GCID: GC10P050817

Choline O-Acetyltransferase

(Previous name: choline acetyltransferase)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 congenital myasthenic syndrome with episodic apnea, and epicondylitis, and among its related super-pathways are Glycerophospholipid biosynthesis and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CHAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28329

  • 4/13 DME Specific Peptides for CHAT (P28329) (see all 13)
     GRVDNIR  YGKTFIK  LPVPPLQQ  QFVVGRDG 

    CHAT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHAT Protein Expression
    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
    Human Recombinant Protein Products for CHAT: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

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

    CHAT for ontologies           About GeneDecksing



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    Abcam antibodies for CHAT
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    CHAT for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004102choline O-acetyltransferase activity IEA--
    GO:0016746transferase activity, transferring acyl groups ----
         
    CHAT for ontologies           About GeneDecksing


    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  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  normal  reproductive system  skeleton 

    CHAT for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHAT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHAT

       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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHAT About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Serotonin Neurotransmitter Release Cycle
    Acetylcholine Neurotransmitter Release Cycle0.53
    5GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for CHAT
        Selected targets of CREB1
    Selected targets of GCR-alpha


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


    5/9        Reactome Pathways for CHAT (see all 9)
        Acetylcholine Neurotransmitter Release Cycle
    Transmission across Chemical Synapses
    Metabolism
    Neurotransmitter Release Cycle
    Phospholipid metabolism

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

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


    CHAT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/25 Interacting proteins for CHAT (P283293 ENSP000003371034) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    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): 5/15 biological process terms (GO ID links to tree view) (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--

    CHAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CHAT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for CHAT

    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

    10/101 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)

    Search CenterWatch for drugs/clinical trials and news about CHAT / CLAT

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 

    24/32 AceView cDNA sequences (see all 32):

    D82342 BX102324 AF305909 AF305907 D82340 NM_020985 AI216456 BV183664 
    NM_182554 AW665925 NM_020984 NM_020986 BI826396 BI825648 NM_020549 AX747176 
    D82341 D82339 S56138 AI917746 AF305908 S45018 BC028127 AK091773 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHAT expression in normal human tissues (normalized intensities)      CHAT embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 7 entries
             Motor neuron-like cells ( Motor neuron differentiation using noggin induction )
             Ventral Horn   
     
     Neuron (Nervous System)    fully expand to see all 6 entries
             Motor neuron-like cells ( Motor neuron differentiation using noggin induction )
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   

    See CHAT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHAT

    SOURCE GeneReport for Unigene cluster: Hs.302002
        SABiosciences Expression via Pathway-Focused 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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    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CHAT gene from 7/16 species (see all 16)    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
    Uncharacterized protein
    76(a)
    1 ↔ 1
    GL343199.1(3489423-3582746)
    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
    52.7(n)1
    41.58(a)1
      422491  NM_057656.21  NP_477004.51 
    worm
    (Caenorhabditis elegans)
    Secernentea B0395.33
    unc-171
    choline O-acetyltransferase3
    UNCoordinated1
    34(a)
    (best of 2)3
    45.9(n)1
    37.7(a)1
      X(16066025-16070026)3
    1771241  NM_001028432.11  NP_001023603.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAT26
    Carnitine acetyl-CoA transferase present in both m...
    27(a)
    1 → many
    XIII(192788-194800)


    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)
    About This Section
    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

    CHAT for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1452 SNPs in CHAT are shown (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--------
    VAR_0116664
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116662 L P 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--------
    VAR_0116684
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116682 I T mis40--------
    VAR_0116694
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116692 R C mis40--------
    VAR_0116714
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116712 R G mis40--------
    VAR_0116704
    Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)4--see VAR_0116702 E K 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/66 diseases for CHAT (see all 66):    About MalaCards
    congenital myasthenic syndrome with episodic apnea    epicondylitis    chat-related congenital myasthenic syndrome    lewy body dementia
    olivopontocerebellar atrophy    congenital myasthenic syndrome    head injury    chronic pain
    retinal ischemia    cri-du-chat syndrome    multiple system atrophy    labyrinthitis
    alzheimer's disease    rett syndrome    neuroepithelioma    angiosarcoma
    sudden infant death syndrome    poliomyelitis    achalasia    dementia

    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

    CHAT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/52 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)
    About This Section

    PubMed articles for CHAT gene, integrated from 9 sources (see all 725):
    (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. (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. (1992)
    3. Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response. (PubMed id 17503482)1, 4, 9 Mancama D....Arranz M.J. (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. (1992)
    5. Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions. (PubMed id 1339386)1, 2, 9 Toussaint J.L.... Kempf J. (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. (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. (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. (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. (2005)
    10. Evaluation of choline acetyltransferase gene polymorphism (2384 G/A) in Alzheimer's disease and mild cognitive impairment. (PubMed id 18562794)1, 4, 9 Tang M....Ling Y. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1103 HGNC: 1912 AceView: CHAT Ensembl:ENSG00000070748 euGenes: HUgn1103
    ECgene: CHAT Kegg: 1103 H-InvDB: CHAT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHAT
    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.)
    About This Section
    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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    About This Section

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