Details for: CHAT

Gene ID: 1103

Symbol: CHAT

Ensembl ID: ENSG00000070748

Description: choline O-acetyltransferase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 4.66
    Marker Score: 30012.5
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.15
    Marker Score: 3166.5
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.92
    Marker Score: 2149
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1171
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.47
    Marker Score: 2782
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.3
    Marker Score: 761
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 857
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 489
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4810
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 505
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.07
    Marker Score: 2218
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2038
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1
    Marker Score: 15609
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 511
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5328
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.82
    Marker Score: 477
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 698
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.74
    Marker Score: 443
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 464
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.68
    Marker Score: 23050
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 482
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.54
    Marker Score: 189
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.51
    Marker Score: 820.5
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.5
    Marker Score: 230
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.5
    Marker Score: 240
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.5
    Marker Score: 159
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.46
    Marker Score: 535
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.42
    Marker Score: 220
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.4
    Marker Score: 128
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.39
    Marker Score: 112
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.38
    Marker Score: 170
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.34
    Marker Score: 334
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.32
    Marker Score: 141
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.3
    Marker Score: 109
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.25
    Marker Score: 73
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.25
    Marker Score: 249
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.23
    Marker Score: 253
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.23
    Marker Score: 533
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.22
    Marker Score: 173
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 76
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.21
    Marker Score: 484
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.19
    Marker Score: 50
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.19
    Marker Score: 181.5
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.17
    Marker Score: 64
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.17
    Marker Score: 52
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.16
    Marker Score: 53
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.15
    Marker Score: 90
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.15
    Marker Score: 265
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.15
    Marker Score: 709
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.14
    Marker Score: 256
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.14
    Marker Score: 152
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.13
    Marker Score: 36
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.12
    Marker Score: 82
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.12
    Marker Score: 33
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.12
    Marker Score: 158
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.12
    Marker Score: 502
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.12
    Marker Score: 127
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.12
    Marker Score: 106
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.11
    Marker Score: 598
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.11
    Marker Score: 110
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.11
    Marker Score: 33
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.11
    Marker Score: 41.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.11
    Marker Score: 124
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.1
    Marker Score: 29
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.1
    Marker Score: 47
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.1
    Marker Score: 25
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.1
    Marker Score: 83
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.09
    Marker Score: 57
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.09
    Marker Score: 36
  • Cell Name: brush cell of trachea (CL0002207)
    Fold Change: 0.09
    Marker Score: 34
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.09
    Marker Score: 32
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.09
    Marker Score: 21
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.09
    Marker Score: 49
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.09
    Marker Score: 31
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.08
    Marker Score: 103
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.08
    Marker Score: 226
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.08
    Marker Score: 33
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.08
    Marker Score: 27
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.08
    Marker Score: 36
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.07
    Marker Score: 30
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.07
    Marker Score: 25

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Other Information

**Key characteristics:** - The protein is mainly expressed in the cytoplasm and nucleus. - It is a bifunctional enzyme with two distinct activities: - Acetylcholine biosynthetic process - Acetylcholine neurotransmitter release cycle **Pathways and functions:** - The enzyme participates in the choline o-acetyltransferase activity, which is involved in the synthesis and release of acetylcholine, a neurotransmitter in the neuromuscular junction. - It is crucial for the regulation of muscle tone, secretion of neurotransmitters, and the maintenance of muscle health. - It is also involved in the synthesis of phosphatidylcholine, a precursor for the synthesis of cell membranes. **Clinical significance:** - Mutations in the CHAT gene have been linked to several neurological and psychiatric disorders, including schizophrenia, autism, and epilepsy. - Studies on animal models have shown that CHAT inhibitors can alleviate symptoms of these disorders, suggesting that it may be a potential therapeutic target for these diseases. **Additional notes:** - The CHAT gene is also involved in the regulation of cell migration and differentiation. - It is a highly conserved gene with a wide expression in different tissues. - Clinically, it is most commonly associated with schizophrenia and related psychiatric disorders.

Genular Protein ID: 1959035332

Symbol: CLAT_HUMAN

Name: Choline O-acetyltransferase

UniProtKB Accession Codes:

P28329 A2BDF4 A2BDF5 Q16488 Q9BQ23 Q9BQ35 Q9BQE1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 50 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 5 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 7 Rhea 1 SABIO-RK 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1337937

Title: A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells.

PubMed ID: 1337937

DOI: 10.1016/0169-328x(92)90237-6

PubMed ID: 11172068

Title: Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

PubMed ID: 11172068

DOI: 10.1073/pnas.98.4.2017

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1388731

Title: Two mRNAs are transcribed from the human gene for choline acetyltransferase.

PubMed ID: 1388731

DOI: 10.1089/dna.1992.11.593

PubMed ID: 1339386

Title: Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions.

PubMed ID: 1339386

DOI: 10.1016/0888-7543(92)90395-9

PubMed ID: 3183663

Title: Conservation of amino acid sequences between human and porcine choline acetyltransferase.

PubMed ID: 3183663

DOI: 10.1111/j.1471-4159.1988.tb01166.x

PubMed ID: 1784419

Title: Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyltransferase gene.

PubMed ID: 1784419

DOI: 10.1016/0304-3940(91)90299-9

PubMed ID: 17144655

Title: Substrate binding and catalytic mechanism of human choline acetyltransferase.

PubMed ID: 17144655

DOI: 10.1021/bi061536l

PubMed ID: 12756141

Title: Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

PubMed ID: 12756141

DOI: 10.1001/archneur.60.5.761

Sequence Information:

  • Length: 748
  • Mass: 82536
  • Checksum: A902364081915391
  • Sequence:
    • MGLRTAKKRG LGGGGKWKRE EGGGTRGRRE VRPACFLQSG GRGDPGDVGG PAGNPGCSPH 
PRAATRPPPL PAHTPAHTPE WCGAASAEAA EPRRAGPHLC IPAPGLTKTP ILEKVPRKMA 
AKTPSSEESG LPKLPVPPLQ QTLATYLQCM RHLVSEEQFR KSQAIVQQFG APGGLGETLQ 
QKLLERQEKT ANWVSEYWLN DMYLNNRLAL PVNSSPAVIF ARQHFPGTDD QLRFAASLIS 
GVLSYKALLD SHSIPTDCAK GQLSGQPLCM KQYYGLFSSY RLPGHTQDTL VAQNSSIMPE 
PEHVIVACCN QFFVLDVVIN FRRLSEGDLF TQLRKIVKMA SNEDERLPPI GLLTSDGRSE 
WAEARTVLVK DSTNRDSLDM IERCICLVCL DAPGGVELSD THRALQLLHG GGYSKNGANR 
WYDKSLQFVV GRDGTCGVVC EHSPFDGIVL VQCTEHLLKH VTQSSRKLIR ADSVSELPAP 
RRLRWKCSPE IQGHLASSAE KLQRIVKNLD FIVYKFDNYG KTFIKKQKCS PDAFIQVALQ 
LAFYRLHRRL VPTYESASIR RFQEGRVDNI RSATPEALAF VRAVTDHKAA VPASEKLLLL 
KDAIRAQTAY TVMAITGMAI DNHLLALREL ARAMCKELPE MFMDETYLMS NRFVLSTSQV 
PTTTEMFCCY GPVVPNGYGA CYNPQPETIL FCISSFHSCK ETSSSKFAKA VEESLIDMRD 
LCSLLPPTES KPLATKEKAT RPSQGHQP

Genular Protein ID: 1303887906

Symbol: Q6LEN6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6LEN6

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 GO 2 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 3 NCBI Taxonomy 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 2 Rhea 2 SUPFAM 1 UniPathway 1

Citations:

PubMed ID: 1337937

Title: A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells.

PubMed ID: 1337937

DOI: 10.1016/0169-328X(92)90237-6

PubMed ID: 1400357

Title: Gene expression of mouse choline acetyltransferase. Alternative splicing and identification of a highly active promoter region.

PubMed ID: 1400357

PubMed ID: 8479291

Title: Multiple mRNA species of choline acetyltransferase from rat spinal cord.

PubMed ID: 8479291

DOI: 10.1016/0169-328X(93)90174-N

PubMed ID: 9073174

Title: Human choline acetyltransferase mRNAs with different 5'-region produce a 69-kDa major translation product.

PubMed ID: 9073174

DOI: 10.1016/S0169-328X(96)00231-8

Sequence Information:

  • Length: 138
  • Mass: 15355
  • Checksum: E760480EC357D2EA
  • Sequence:
    • MAAKTPSSEE SGLPKLPVPP LQQTLATYLQ CMRHLVSEEQ FRKSQAIVQQ FGAPGGLGET 
LQQKLLERQE KTANWVSEYW LNDMYLNNRL ALPVNSSPAV IFARQHFPGT DDQLRFAASL 
ISGVLSYKAL LDSHSIPT

Genular Protein ID: 3644719406

Symbol: Q6LEN5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6LEN5

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 EMBL 5 GO 1 Gene3D 1 GenomeRNAi 1 InterPro 2 NCBI Taxonomy 1 PROSITE 1 PeptideAtlas 1 PharmGKB 1 RefSeq 1 Rhea 1 SUPFAM 1

Citations:

PubMed ID: 1337937

Title: A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells.

PubMed ID: 1337937

DOI: 10.1016/0169-328X(92)90237-6

PubMed ID: 1400357

Title: Gene expression of mouse choline acetyltransferase. Alternative splicing and identification of a highly active promoter region.

PubMed ID: 1400357

PubMed ID: 8479291

Title: Multiple mRNA species of choline acetyltransferase from rat spinal cord.

PubMed ID: 8479291

DOI: 10.1016/0169-328X(93)90174-N

PubMed ID: 7616604

Title: Human choline acetyltransferase gene: localization of alternative first exons.

PubMed ID: 7616604

DOI: 10.1002/jnr.490400402

PubMed ID: 9073174

Title: Human choline acetyltransferase mRNAs with different 5'-region produce a 69-kDa major translation product.

PubMed ID: 9073174

DOI: 10.1016/S0169-328X(96)00231-8

Sequence Information:

  • Length: 34
  • Mass: 3724
  • Checksum: 22E9860105EF4104
  • Sequence:
    • MAAKTPSSEE SGLPKLPVPP LQQTLATYLQ CMRH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.