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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 ge... See more...
Aliases for CHAT Gene
Aliases for CHAT Gene
External Ids for CHAT Gene
- HGNC: 1912
- NCBI Entrez Gene: 1103
- Ensembl: ENSG00000070748
- OMIM®: 118490
- UniProtKB/Swiss-Prot: P28329
Previous GeneCards Identifiers for CHAT Gene
- GC10P049721
- GC10P050709
- GC10P050161
- GC10P050487
- GC10P050817
- GC10P045081
Summaries 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 Myasthenic Syndrome, Congenital, 6, Presynaptic and Congenital Myasthenic Syndrome With Episodic Apnea. Among its related pathways are Glycerophospholipid biosynthesis and Notch Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and choline O-acetyltransferase activity. An important paralog of this gene is CRAT.
UniProtKB/Swiss-Prot Summary for CHAT Gene
-
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Additional gene information for CHAT Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHAT Gene
Genomics for CHAT Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CHAT Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J049610 | Promoter | 1.1 | EPDnew Ensembl | 250.7 | +1.1 | 1106 | 0.8 | ZIC2 SP2 ZBTB48 KLF1 EZH2 ZBTB17 GLIS2 PRDM10 ZFHX2 ZNF335 | CHAT SLC18A3 NONHSAG005873.2 ERCC6 | |
| GH10J049612 | Promoter/Enhancer | 1 | EPDnew Ensembl ENCODE | 250.7 | +4.2 | 4215 | 1 | KLF9 SP2 CTCF KLF1 RAD21 EZH2 GLIS2 KDM1A | CHAT SLC18A3 NONHSAG005873.2 piR-35674-048 C10orf53 | |
| GH10J049608 | Promoter | 0.4 | EPDnew | 250.7 | -0.1 | -70 | 0.1 | EZH2 | CHAT SLC18A3 NONHSAG005873.2 piR-50437-050 ERCC6 | |
| GH10J049645 | Enhancer | 0.5 | Ensembl | 12.1 | +36.8 | 36805 | 1.4 | ZIC2 SPI1 MYC MAX RAD21 MNT | CHAT SLC18A3 piR-35674-048 C10orf53 | |
| GH10J049567 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 5.6 | -40.3 | -40331 | 2.5 | BCL11A CEBPB MAX EP300 PRDM1 RFX5 STAT3 TBP TCF7L2 BHLHE40 | ERCC6 SLC18A3 CHAT PGBD3 HMGB1P50 piR-50437-050 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CHAT on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHAT
- Top Transcription factor binding sites by QIAGEN in the CHAT gene promoter:
-
- NRSF form 1
- NRSF form 2
Genomic Locations for CHAT Gene
Latest Assembly
- chr10:49,609,095-49,667,942
- (GRCh38/hg38)
- Size:
- 58,848 bases
- Orientation:
- Plus strand
Previous Assembly
- chr10:50,817,141-50,875,988
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 58,848 bases
- Orientation:
- Plus strand
Genomic View for CHAT Gene
Genes around CHAT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q11.23 by HGNC
- 10q11.23 by Entrez Gene
- 10q11.23 by Ensembl
CHAT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHAT Gene
Proteins for CHAT Gene
-
Protein details for CHAT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P28329-CLAT_HUMAN
- Recommended name:
- Choline O-acetyltransferase
- Protein Accession:
- P28329
- A2BDF4
- A2BDF5
- Q16488
- Q9BQ23
- Q9BQ35
- Q9BQE1
Protein attributes for CHAT Gene
- Size:
- 748 amino acids
- Molecular mass:
- 82536 Da
- Quaternary structure:
- No Data Available
Three dimensional structures from OCA and Proteopedia for CHAT Gene
Protein Expression for CHAT Gene
Selected DME Specific Peptides for CHAT Gene
- P28329:
-
- TPEALAFV
- INFRRLSEGDLFTQLRKI
- YGKTFIK
- SELPAPRRLRWKCSP
- LPVPPLQQ
- KDSTNRDSLDMIERC
- ALQLLHGGG
- LISGVLSYK
- GRVDNIR
- LASSAEKLQ
- RLVPTYESASIRRF
- DMYLNNRLALPVNSSP
- QFVVGRDG
Post-translational modifications for CHAT Gene
Other Protein References for CHAT Gene
Antibodies for research
- LifeSpan BioSciences CHAT Antibody
- NSJ Bioreagents ChAT Antibody / Choline acetyltransferase
-
Custom Antibody ServicesOriGene Antibodies for CHAT
- Novus Biologicals Antibodies for CHAT
-
Abcam antibodies for CHAT
- Invitrogen Antibodies for CHAT (AFLGC-CHAT)
- antibodies-online: Show 71 available Choline Acetyltransferase Antibodies ranked by validation data
- Compare Top Choline Acetyltransferase Antibodies
-
Recommended
- 137 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 4 IF Antibodies (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 62 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 6 IHC (fro) Antibodies (anti-rat)
- 5 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 IP Antibody (anti-rat)
- 117 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 8 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 1 IP Antibody (anti-mouse)
-
Custom Antibody ServicesProSci Antibodies for CHAT
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHAT
- Sino Biological Antibodies for CHAT
Protein products for research
-
OriGene Purified Proteins for CHAT
- Search Origene for MassSpec and Protein Over-expression Lysates for CHAT
- Origene Custom Protein Services for CHAT
-
Abcam proteins for CHAT
Assay products for research
- Novus Biologicals ELISA Kits for CHAT
- antibodies-online: Show 78 available Choline Acetyltransferase Elisa Kits ranked by validation data
- Compare Top Choline Acetyltransferase Elisa Kits
-
Quality Products:
- ABIN832464
- ABIN417767
- ABIN1568973
- ABIN1114129
- ABIN5524437
- ABIN626362
- ABIN5594522
- ABIN770688
- ABIN5652909
- ABIN6385914
- ABIN832465
- ABIN425198
- ABIN1568974
- ABIN5524438
- ABIN627706
- ABIN5594523
- ABIN5652910
- ABIN2542920
- ABIN6209774
- ABIN2946309
- ABIN832466
- ABIN431604
- ABIN1568975
- ABIN1884363
- ABIN5524439
- ABIN1169617
- ABIN626886
- ABIN5652912
- ABIN5652911
- ABIN2542921
- ABIN1560455
- ABIN1052052
- ABIN6228043
- ABIN1052049
Domains & Families for CHAT Gene
Gene Families for CHAT Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for CHAT Gene
- InterPro:
- Blocks:
-
- Acyltransferase ChoActase/COT/CPT
Suggested Antigen Peptide Sequences for CHAT Gene
- GenScript: Design optimal peptide antigens:
-
- CHAT protein (A2BDF5_HUMAN)
- Choline O-acetyltransferase (CLAT_HUMAN)
- Choline acetyltransferase, isoform CRA_a (D3DX95_HUMAN)
- Choline acetyltransferase (Q6LEN5_HUMAN)
- Choline acetyltransferase (Q6LEN6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P28329- Family:
-
- Belongs to the carnitine/choline acetyltransferase family.
Function for CHAT Gene
Molecular function for CHAT Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=acetyl-CoA + choline = acetylcholine + CoA; Xref=Rhea:RHEA:18821, ChEBI:CHEBI:15354, ChEBI:CHEBI:15355, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.6; Evidence={ECO:0000269|PubMed:17144655};.
- GENATLAS Biochemistry:
- choline acetyltransferase neurotransmitter acetylcholine catalyzing enzyme synthesis,expressed in the brain and spinal cord
Enzyme Numbers (IUBMB) for CHAT Gene
Phenotypes From GWAS Catalog for CHAT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004102 | choline O-acetyltransferase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
Phenotypes for CHAT Gene
- MGI mutant phenotypes for CHAT:
-
inferred from 10 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- respiratory system phenotype
- mortality/aging
- digestive/alimentary phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- GenomeRNAi human phenotypes for CHAT:
Animal Models for CHAT Gene
- MGI Knock Outs for CHAT:
-
- Chat/Slc18a3 Chat/Slc18a3<tm1.1Vpra>
- Chat Chat<tm1.1Jrs>
- Chat Chat<tm1Fhg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CHAT - Starting at $85 >
- * CHAT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CHAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHAT
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHAT
miRNA for CHAT Gene
- miRTarBase miRNAs that target CHAT
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHAT
- Browse OriGene Inhibitory RNA Products For CHAT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHAT
Clone products for research
- Applied Biological Materials (abm): Clones for CHAT - Starting at $45 >
- * CHAT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225685
- MR225685
- MR225685L3
- MR225685L4
- RC216924
- RC216924L3
- RC216924L4
- RC217232
- RC217232L3
- RC217232L4
- RC221354
- RC221354L3
- RC221354L4
- RC222531
- RC222531L3
- RC222531L4
- RC227219
- RC227219L3
- RC227219L4
- RC227499
- RC227499L3
- RC227499L4
- RC227556
- RC227556L3
- RC227556L4
- RG216924
- RG217232
- RG221354
- RG222531
- RG227219
- RG227499
- RG227556
- RR217035
- MR225685L3V
- MR225685L4V
- RC216924L3V
- RC216924L4V
- RC217232L3V
- RC217232L4V
- RC221354L3V
- RC221354L4V
- RC222531L3V
- RC222531L4V
- RC227219L3V
- RC227219L4V
- RC227499L3V
- RC227499L4V
- RC227556L3V
- RC227556L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CHAT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHAT
Cell Lines for research
-
Horizon Cell Lines for CHAT
No data available for Transcription Factor Targets and HOMER Transcription for CHAT Gene
Localization for CHAT Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 3 |
| cytoskeleton | 3 |
| peroxisome | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS | 10861222 |
| GO:0005737 | cytoplasm | TAS,IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0043005 | neuron projection | IBA | 21873635 |
| GO:0045202 | synapse | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CHAT Gene
Pathways & Interactions for CHAT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycerophospholipid biosynthesis | ||
| 2 | Neurotransmitter Release Cycle | ||
| 3 | Metabolism |
.40
|
|
| 4 | Transmission across Chemical Synapses |
.62
|
|
| 5 | Circadian entrainment | ||
Pathways by source for CHAT Gene
1 Sino Biological pathway for CHAT Gene
3 BioSystems pathways for CHAT Gene
9 Reactome pathways for CHAT Gene
1 PharmGKB pathway for CHAT Gene
2 KEGG pathways for CHAT Gene
1 R&D Systems pathway for CHAT Gene
Interacting Proteins for CHAT Gene
Selected Interacting proteins:
P28329-CLAT_HUMAN
ENSP00000337103
for CHAT Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CHAT
SIGNOR curated interactions for CHAT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
| GO:0007269 | neurotransmitter secretion | TAS | -- |
| GO:0007274 | neuromuscular synaptic transmission | IBA | 21873635 |
| GO:0008292 | acetylcholine biosynthetic process | IBA | 21873635 |
| GO:0042136 | neurotransmitter biosynthetic process | IEA | -- |
Drugs & Compounds for CHAT Gene
Transcripts for CHAT Gene
mRNA/cDNA for CHAT Gene
- 7 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000337653 5296 nts (view in UCSC)
- ENST00000339797 2124 nts (view in UCSC)
- ENST00000351556 2286 nts (view in UCSC)
- ENST00000395559 2114 nts (view in UCSC)
- ENST00000395562 2528 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CHAT - Starting at $85 >
- * CHAT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CHAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHAT
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHAT
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHAT
- Browse OriGene Inhibitory RNA Products For CHAT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHAT
Clone products for research
- Applied Biological Materials (abm): Clones for CHAT - Starting at $45 >
- * CHAT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225685
- MR225685
- MR225685L3
- MR225685L4
- RC216924
- RC216924L3
- RC216924L4
- RC217232
- RC217232L3
- RC217232L4
- RC221354
- RC221354L3
- RC221354L4
- RC222531
- RC222531L3
- RC222531L4
- RC227219
- RC227219L3
- RC227219L4
- RC227499
- RC227499L3
- RC227499L4
- RC227556
- RC227556L3
- RC227556L4
- RG216924
- RG217232
- RG221354
- RG222531
- RG227219
- RG227499
- RG227556
- RR217035
- MR225685L3V
- MR225685L4V
- RC216924L3V
- RC216924L4V
- RC217232L3V
- RC217232L4V
- RC221354L3V
- RC221354L4V
- RC222531L3V
- RC222531L4V
- RC227219L3V
- RC227219L4V
- RC227499L3V
- RC227499L4V
- RC227556L3V
- RC227556L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CHAT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHAT
| 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: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
Relevant External Links for CHAT Gene
- GeneLoc Exon Structure for
- CHAT
Expression for CHAT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neurons
- Spinal Cord (Nervous System)
- Motor Neurons (Nervous System)
-
Eye (Sensory Organs)
- Cholinergic Amacrine Cells Inner Nuclear Layer
- Cholinergic Amacrine Cells Ganglion Cell Layer
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
-
Ovary (Reproductive System)
- Secondary Oocyte Antral Follicle
-
Gonad
- Secondary Oocyte Antral Follicle
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for CHAT Gene
This gene is overexpressed in Brain - Putamen (basal ganglia) (x16.6), Brain - Caudate (basal ganglia) (x15.3), and Brain - Nucleus accumbens (basal ganglia) (x6.1).
This gene is overexpressed in Monocytes (34.9), Tlymphocyte (20.1), and Placenta (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHAT Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHAT
SOURCE GeneReport for Unigene cluster for CHAT Gene:
Hs.302002Evidence on tissue expression from TISSUES for CHAT Gene
- Nervous system(4.6)
- Blood(4.5)
- Eye(2.3)
- Muscle(2.3)
- Skin(2.1)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHAT Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- chest wall
- diaphragm
- esophagus
- lung
- rib
- rib cage
- sternum
Abdomen:
- stomach
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for CHAT
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt for CHAT Gene
Orthologs for CHAT Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CHAT 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CHAT 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CHAT 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Chat 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Chat 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CHAT 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CHAT 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CHAT 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CHAT 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chat 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | chat 29 30 |
|
OneToMany | |
| CHAT (2 of 2) 30 |
|
OneToMany | |||
| zgc64220 29 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002370 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cha 29 30 31 |
|
OneToOne | |
| CG5122 31 |
|
|
|||
| CG5265 31 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | cha-1 29 30 31 |
|
OneToOne | |
| B0395.3 31 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CAT2 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14198 29 |
|
- Species where no ortholog for CHAT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CHAT Gene
- ENSEMBL:
- Gene Tree for CHAT (if available)
- TreeFam:
- Gene Tree for CHAT (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHAT: view image
- Alliance of Genome Resources:
- Additional Orthologs for CHAT
Paralogs for CHAT Gene
Variants for CHAT Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHAT Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000655 | Uncertain Significance: Familial infantile myasthenia | 49,665,010(+) |
A/T NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp) |
MISSENSE | |
| 1002390 | Uncertain Significance: Familial infantile myasthenia | 49,627,722(+) |
A/C NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu) |
MISSENSE | |
| 1005150 | Uncertain Significance: Familial infantile myasthenia | 49,651,879(+) |
C/A NM_020549.5(CHAT):c.1512-5C>A |
INTRON | |
| 1006999 | Uncertain Significance: Familial infantile myasthenia | 49,649,564(+) |
C/G NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg) |
MISSENSE | |
| 1010345 | Uncertain Significance: Familial infantile myasthenia | 49,627,701(+) |
G/A NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1348586 | CNV | insertion | 17803354 |
| nsv1042677 | CNV | loss | 25217958 |
| nsv1134007 | CNV | deletion | 24896259 |
| nsv1145454 | CNV | deletion | 24896259 |
| nsv510217 | OTHER | sequence alteration | 20534489 |
| nsv550819 | CNV | loss | 21841781 |
| nsv950954 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.10;
87.70% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHAT Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHAT Gene
Disorders for CHAT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myasthenic syndrome, congenital, 6, presynaptic |
|
|
| congenital myasthenic syndrome with episodic apnea |
|
|
| aspiration pneumonia |
|
|
| central sleep apnea |
|
|
| gastroesophageal reflux |
|
|
Search CHAT in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CLAT_HUMAN- Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals 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. CMS6 inheritance is autosomal recessive. {ECO:0000269 PubMed:11172068, ECO:0000269 PubMed:12756141}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for CHAT
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for CHAT Gene
Publications for CHAT Gene
- Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. (PMID: 11172068) Ohno K … Engel AG (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 72
- 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. (PMID: 18780301) Scacchi R … Corbo RM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 40
- Alzheimer's disease: case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample. (PMID: 17503475) Piccardi M … Del Zompo M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 40
- Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response. (PMID: 17503482) Mancama D … Arranz MJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 40
- Substrate binding and catalytic mechanism of human choline acetyltransferase. (PMID: 17144655) Kim AR … Shilton BH (Biochemistry 2006) 3 4 22
ExternalLinks
Products for CHAT Gene
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- VectorBuilder Virus packaging for CHAT CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CHAT
- antibodies-online: Show 71 available Choline Acetyltransferase Antibodies ranked by validation data
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Sources for CHAT Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
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- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
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- (48) Leiden
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- (50) DME
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- (52) PubMed
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- (56) Novus Biologicals
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- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
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- (146) RNAcentral
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