Details for: CHAT

Gene ID: 1103

Symbol: CHAT

Ensembl ID: ENSG00000070748

Description: choline O-acetyltransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 3.6335
    Cell Significance Index: 79.5600
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 2.3087
    Cell Significance Index: 23.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.4303
    Cell Significance Index: 64.8300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.9351
    Cell Significance Index: 177.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7293
    Cell Significance Index: 72.1400
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.7135
    Cell Significance Index: 7.5800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6629
    Cell Significance Index: 598.5300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5661
    Cell Significance Index: 12.2700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.5276
    Cell Significance Index: 7.5600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.4494
    Cell Significance Index: 6.5500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3157
    Cell Significance Index: 5.4100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2911
    Cell Significance Index: 31.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2796
    Cell Significance Index: 5.9600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2456
    Cell Significance Index: 7.8700
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.2118
    Cell Significance Index: 2.7800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2087
    Cell Significance Index: 33.9500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1815
    Cell Significance Index: 12.5500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1310
    Cell Significance Index: 3.2700
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.1027
    Cell Significance Index: 1.1400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0727
    Cell Significance Index: 50.2600
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.0711
    Cell Significance Index: 0.3400
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.0685
    Cell Significance Index: 0.7800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0301
    Cell Significance Index: 1.8100
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.0242
    Cell Significance Index: 0.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0163
    Cell Significance Index: 0.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0154
    Cell Significance Index: 0.5400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0060
    Cell Significance Index: 0.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0036
    Cell Significance Index: 0.6100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0035
    Cell Significance Index: 0.7000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0016
    Cell Significance Index: 0.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0004
    Cell Significance Index: 0.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0004
    Cell Significance Index: 0.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0003
    Cell Significance Index: 0.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0001
    Cell Significance Index: -0.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0014
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0016
    Cell Significance Index: -1.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0021
    Cell Significance Index: -1.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0021
    Cell Significance Index: -1.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0024
    Cell Significance Index: -1.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0025
    Cell Significance Index: -1.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0031
    Cell Significance Index: -0.8800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0041
    Cell Significance Index: -0.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0049
    Cell Significance Index: -0.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0062
    Cell Significance Index: -1.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0070
    Cell Significance Index: -1.2700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0108
    Cell Significance Index: -1.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0113
    Cell Significance Index: -1.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0138
    Cell Significance Index: -1.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0181
    Cell Significance Index: -1.2200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0189
    Cell Significance Index: -1.1600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0196
    Cell Significance Index: -0.2900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0201
    Cell Significance Index: -0.5200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0214
    Cell Significance Index: -0.3600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0218
    Cell Significance Index: -0.3100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0221
    Cell Significance Index: -0.7000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0222
    Cell Significance Index: -0.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0253
    Cell Significance Index: -1.1200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0255
    Cell Significance Index: -1.4300
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: -0.0266
    Cell Significance Index: -0.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0273
    Cell Significance Index: -0.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0277
    Cell Significance Index: -1.0500
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0281
    Cell Significance Index: -0.5500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0289
    Cell Significance Index: -0.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0294
    Cell Significance Index: -1.3800
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: -0.0299
    Cell Significance Index: -0.3400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0328
    Cell Significance Index: -0.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0343
    Cell Significance Index: -1.8000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0345
    Cell Significance Index: -0.9200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0367
    Cell Significance Index: -0.5500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0368
    Cell Significance Index: -1.2900
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0368
    Cell Significance Index: -0.5600
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.0382
    Cell Significance Index: -0.3900
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0401
    Cell Significance Index: -0.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0408
    Cell Significance Index: -1.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0418
    Cell Significance Index: -1.3700
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.0431
    Cell Significance Index: -0.5400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0449
    Cell Significance Index: -1.2800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0520
    Cell Significance Index: -0.7900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0525
    Cell Significance Index: -0.9700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0532
    Cell Significance Index: -0.4100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0533
    Cell Significance Index: -1.3000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0540
    Cell Significance Index: -1.1200
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0548
    Cell Significance Index: -0.7600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0573
    Cell Significance Index: -1.4300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0574
    Cell Significance Index: -0.6700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0577
    Cell Significance Index: -0.9700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0608
    Cell Significance Index: -1.2900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0612
    Cell Significance Index: -2.5100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0617
    Cell Significance Index: -1.4800
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0617
    Cell Significance Index: -0.7800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0619
    Cell Significance Index: -1.5000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0620
    Cell Significance Index: -1.5800
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0628
    Cell Significance Index: -1.0100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0643
    Cell Significance Index: -1.3900
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0660
    Cell Significance Index: -0.8500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0662
    Cell Significance Index: -3.3500
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0667
    Cell Significance Index: -1.0800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0667
    Cell Significance Index: -0.6900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0672
    Cell Significance Index: -1.3500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CHAT is a cytosolic enzyme that catalyzes the transfer of an acetyl group from acetyl-CoA to choline, resulting in the formation of acetylcholine (ACh). ACh is a key neurotransmitter involved in various physiological processes, including muscle contraction, memory formation, and regulation of the autonomic nervous system. CHAT is highly specific, with a high affinity for its substrate, choline. The enzyme is also highly expressed in the nervous system, with highest levels found in the brain and neuromuscular junctions. **Pathways and Functions:** CHAT is involved in the acetylcholine biosynthetic process, which is crucial for the regulation of neurotransmission. The enzyme catalyzes the formation of acetylcholine from choline and acetyl-CoA, which is then released into the synaptic cleft and binds to its receptors, triggering various physiological responses. CHAT is also involved in the regulation of lipid metabolism, specifically the synthesis of phosphatidylcholine, a key component of cellular membranes. In addition to its role in neurotransmission, CHAT has been implicated in the development and maintenance of the nervous system. The enzyme is highly expressed in progenitor cells and neural stem cells, suggesting its involvement in neural development and differentiation. **Clinical Significance:** Dysregulation of CHAT has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and myasthenia gravis. In Alzheimer's disease, CHAT activity is reduced, leading to a decrease in acetylcholine levels and impaired neurotransmission. In Parkinson's disease, CHAT activity is also reduced, contributing to the depletion of dopamine and other neurotransmitters. CHAT has also been explored as a potential therapeutic target for the treatment of various neurological disorders. Inhibitors of CHAT have been shown to reduce acetylcholine levels, which may be beneficial in treating conditions characterized by excessive acetylcholine activity, such as myasthenia gravis. In conclusion, CHAT is a crucial enzyme involved in the regulation of acetylcholine biosynthesis and neurotransmission. Its dysregulation has been implicated in various neurological disorders, and it has potential as a therapeutic target for the treatment of these conditions. Further research is needed to fully elucidate the role of CHAT in human health and disease. **Significantly expressed cells:** - Progenitor cell - Blood vessel endothelial cell - Plasma cell - Colon goblet cell - Cardiac endothelial cell - Pericyte - Intestinal crypt stem cell of small intestine - Transit amplifying cell of small intestine - Goblet cell - Enterocyte of epithelium of small intestine **Proteins:** - CLAT_HUMAN (Choline O-acetyltransferase) - Q6LEN6_HUMAN - Q6LEN5_HUMAN

Genular Protein ID: 1959035332

Symbol: CLAT_HUMAN

Name: Choline O-acetyltransferase

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.