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P28329

- CLAT_HUMAN

UniProt

P28329 - CLAT_HUMAN

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Protein

Choline O-acetyltransferase

Gene

CHAT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

Catalytic activityi

Acetyl-CoA + choline = CoA + O-acetylcholine.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei442 – 4421Proton acceptor
Binding sitei558 – 5581Coenzyme A
Binding sitei659 – 6591Coenzyme A

GO - Molecular functioni

  1. choline O-acetyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. adult walking behavior Source: Ensembl
  2. dendrite development Source: Ensembl
  3. establishment of synaptic specificity at neuromuscular junction Source: Ensembl
  4. glycerophospholipid biosynthetic process Source: Reactome
  5. muscle organ development Source: Ensembl
  6. neuromuscular synaptic transmission Source: Ensembl
  7. neurotransmitter biosynthetic process Source: UniProtKB-KW
  8. neurotransmitter secretion Source: Reactome
  9. phosphatidylcholine biosynthetic process Source: Reactome
  10. phospholipid metabolic process Source: Reactome
  11. rhythmic behavior Source: Ensembl
  12. rhythmic excitation Source: Ensembl
  13. small molecule metabolic process Source: Reactome
  14. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Neurotransmitter biosynthesis

Enzyme and pathway databases

ReactomeiREACT_121238. Synthesis of PC.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
SABIO-RKP28329.

Names & Taxonomyi

Protein namesi
Recommended name:
Choline O-acetyltransferase (EC:2.3.1.6)
Short name:
CHOACTase
Short name:
ChAT
Short name:
Choline acetylase
Gene namesi
Name:CHAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:1912. CHAT.

Subcellular locationi

GO - Cellular componenti

  1. axon Source: Ensembl
  2. cytoplasm Source: ProtInc
  3. cytosol Source: Reactome
  4. mitochondrion Source: Ensembl
  5. neuronal cell body Source: Ensembl
  6. nucleus Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti210 – 2101L → P in CMSEA; impaired activity. 1 Publication
Corresponds to variant rs28930071 [ dbSNP | Ensembl ].
VAR_011666
Natural varianti211 – 2111P → A in CMSEA; impaired activity. 1 Publication
VAR_011667
Natural varianti305 – 3051I → T in CMSEA; impaired activity. 1 Publication
Corresponds to variant rs28929482 [ dbSNP | Ensembl ].
VAR_011668
Natural varianti336 – 3361I → T in CMSEA. 1 Publication
VAR_038605
Natural varianti420 – 4201R → C in CMSEA; impaired activity. 1 Publication
VAR_011669
Natural varianti441 – 4411E → K in CMSEA; completely lack activity. 1 Publication
Corresponds to variant rs28930070 [ dbSNP | Ensembl ].
VAR_011670
Natural varianti482 – 4821R → G in CMSEA; impaired activity. 1 Publication
Corresponds to variant rs28929481 [ dbSNP | Ensembl ].
VAR_011671
Natural varianti498 – 4981S → L in CMSEA; impaired activity. 1 Publication
VAR_011672
Natural varianti506 – 5061V → L in CMSEA; impaired activity. 1 Publication
VAR_011673
Natural varianti560 – 5601R → H in CMSEA; impaired activity. 1 Publication
VAR_011674

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi254210. phenotype.
Orphaneti98914. Presynaptic congenital myasthenic syndromes.
PharmGKBiPA26448.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 748748Choline O-acetyltransferasePRO_0000210154Add
BLAST

Proteomic databases

PaxDbiP28329.
PRIDEiP28329.

PTM databases

PhosphoSiteiP28329.

Expressioni

Gene expression databases

BgeeiP28329.
CleanExiHS_CHAT.
ExpressionAtlasiP28329. baseline.
GenevestigatoriP28329.

Organism-specific databases

HPAiCAB002313.
HPA048547.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000337103.

Structurei

Secondary structure

1
748
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi139 – 15012Combined sources
Helixi151 – 1533Combined sources
Helixi156 – 16914Combined sources
Helixi175 – 18915Combined sources
Beta strandi190 – 1923Combined sources
Helixi195 – 2028Combined sources
Turni203 – 2053Combined sources
Helixi210 – 2134Combined sources
Beta strandi217 – 2193Combined sources
Helixi228 – 25023Combined sources
Beta strandi261 – 2633Combined sources
Beta strandi265 – 2673Combined sources
Helixi271 – 2755Combined sources
Beta strandi276 – 2827Combined sources
Beta strandi285 – 2873Combined sources
Beta strandi289 – 2924Combined sources
Beta strandi300 – 3089Combined sources
Beta strandi311 – 3199Combined sources
Helixi326 – 34015Combined sources
Helixi343 – 3453Combined sources
Helixi350 – 3556Combined sources
Helixi358 – 36912Combined sources
Helixi372 – 38211Combined sources
Beta strandi387 – 3904Combined sources
Helixi400 – 40910Combined sources
Turni413 – 4186Combined sources
Beta strandi424 – 4307Combined sources
Beta strandi436 – 4405Combined sources
Beta strandi442 – 4443Combined sources
Helixi447 – 46115Combined sources
Helixi489 – 50820Combined sources
Beta strandi509 – 5168Combined sources
Helixi521 – 5255Combined sources
Turni526 – 5283Combined sources
Helixi531 – 54717Combined sources
Beta strandi553 – 5586Combined sources
Beta strandi567 – 5693Combined sources
Helixi575 – 58511Combined sources
Helixi587 – 5893Combined sources
Helixi593 – 61523Combined sources
Helixi621 – 63414Combined sources
Helixi640 – 6434Combined sources
Helixi645 – 6506Combined sources
Beta strandi654 – 6596Combined sources
Beta strandi663 – 6653Combined sources
Beta strandi667 – 6693Combined sources
Beta strandi678 – 6847Combined sources
Beta strandi689 – 6968Combined sources
Helixi704 – 72219Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2FY2X-ray2.25A120-733[»]
2FY3X-ray2.27A120-733[»]
2FY4X-ray2.30A120-733[»]
2FY5X-ray2.60A120-733[»]
ProteinModelPortaliP28329.
SMRiP28329. Positions 126-727.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP28329.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni520 – 53213Coenzyme A bindingAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG70127.
GeneTreeiENSGT00760000119220.
HOGENOMiHOG000233845.
HOVERGENiHBG107717.
InParanoidiP28329.
KOiK00623.
OMAiHVIVACC.
OrthoDBiEOG7WHH90.
PhylomeDBiP28329.
TreeFamiTF313836.

Family and domain databases

InterProiIPR000542. Carn_acyl_trans.
[Graphical view]
PANTHERiPTHR22589. PTHR22589. 1 hit.
PfamiPF00755. Carn_acyltransf. 1 hit.
[Graphical view]
PROSITEiPS00439. ACYLTRANSF_C_1. 1 hit.
PS00440. ACYLTRANSF_C_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform M (identifier: P28329-1) [UniParc]FASTAAdd to Basket

Also known as: 83 kDa

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGLRTAKKRG LGGGGKWKRE EGGGTRGRRE VRPACFLQSG GRGDPGDVGG
60 70 80 90 100
PAGNPGCSPH PRAATRPPPL PAHTPAHTPE WCGAASAEAA EPRRAGPHLC
110 120 130 140 150
IPAPGLTKTP ILEKVPRKMA AKTPSSEESG LPKLPVPPLQ QTLATYLQCM
160 170 180 190 200
RHLVSEEQFR KSQAIVQQFG APGGLGETLQ QKLLERQEKT ANWVSEYWLN
210 220 230 240 250
DMYLNNRLAL PVNSSPAVIF ARQHFPGTDD QLRFAASLIS GVLSYKALLD
260 270 280 290 300
SHSIPTDCAK GQLSGQPLCM KQYYGLFSSY RLPGHTQDTL VAQNSSIMPE
310 320 330 340 350
PEHVIVACCN QFFVLDVVIN FRRLSEGDLF TQLRKIVKMA SNEDERLPPI
360 370 380 390 400
GLLTSDGRSE WAEARTVLVK DSTNRDSLDM IERCICLVCL DAPGGVELSD
410 420 430 440 450
THRALQLLHG GGYSKNGANR WYDKSLQFVV GRDGTCGVVC EHSPFDGIVL
460 470 480 490 500
VQCTEHLLKH VTQSSRKLIR ADSVSELPAP RRLRWKCSPE IQGHLASSAE
510 520 530 540 550
KLQRIVKNLD FIVYKFDNYG KTFIKKQKCS PDAFIQVALQ LAFYRLHRRL
560 570 580 590 600
VPTYESASIR RFQEGRVDNI RSATPEALAF VRAVTDHKAA VPASEKLLLL
610 620 630 640 650
KDAIRAQTAY TVMAITGMAI DNHLLALREL ARAMCKELPE MFMDETYLMS
660 670 680 690 700
NRFVLSTSQV PTTTEMFCCY GPVVPNGYGA CYNPQPETIL FCISSFHSCK
710 720 730 740
ETSSSKFAKA VEESLIDMRD LCSLLPPTES KPLATKEKAT RPSQGHQP
Length:748
Mass (Da):82,536
Last modified:December 15, 2009 - v4
Checksum:iA902364081915391
GO
Isoform S (identifier: P28329-2) [UniParc]FASTAAdd to Basket

Also known as: 74 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MGLRTAKKRG...SAEAAEPRRA → MWPECRDEALSTV

Show »
Length:666
Mass (Da):74,361
Checksum:i3A521459434FF919
GO
Isoform R (identifier: P28329-3) [UniParc]FASTAAdd to Basket

Also known as: 70 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.

Show »
Length:630
Mass (Da):70,394
Checksum:i0BF3CC8F56518326
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti151 – 1511R → Q in CAA39923. (PubMed:1339386)Curated
Sequence conflicti261 – 2622GQ → PE in AAA14245. (PubMed:1337937)Curated
Sequence conflicti396 – 3961V → L in AAB23557. (PubMed:1388731)Curated
Sequence conflicti434 – 4341G → A in AAA14245. (PubMed:1337937)Curated
Sequence conflicti529 – 5291C → S in AAB23557. (PubMed:1388731)Curated
Sequence conflicti567 – 5671V → L in AAB23557. (PubMed:1388731)Curated
Sequence conflicti629 – 6302EL → DV in AAB23557. (PubMed:1388731)Curated
Sequence conflicti664 – 6641T → M in AAB23557. (PubMed:1388731)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471D → E.
Corresponds to variant rs3810948 [ dbSNP | Ensembl ].
VAR_046683
Natural varianti120 – 1201A → T.3 Publications
Corresponds to variant rs3810950 [ dbSNP | Ensembl ].
VAR_011675
Natural varianti210 – 2101L → P in CMSEA; impaired activity. 1 Publication
Corresponds to variant rs28930071 [ dbSNP | Ensembl ].
VAR_011666
Natural varianti211 – 2111P → A in CMSEA; impaired activity. 1 Publication
VAR_011667
Natural varianti222 – 2221R → P.
Corresponds to variant rs8178989 [ dbSNP | Ensembl ].
VAR_046684
Natural varianti243 – 2431L → F.
Corresponds to variant rs8178990 [ dbSNP | Ensembl ].
VAR_046685
Natural varianti299 – 2991P → L.
Corresponds to variant rs868749 [ dbSNP | Ensembl ].
VAR_046686
Natural varianti305 – 3051I → T in CMSEA; impaired activity. 1 Publication
Corresponds to variant rs28929482 [ dbSNP | Ensembl ].
VAR_011668
Natural varianti336 – 3361I → T in CMSEA. 1 Publication
VAR_038605
Natural varianti392 – 3921A → G.2 Publications
VAR_011676
Natural varianti400 – 4001D → N.
Corresponds to variant rs8178991 [ dbSNP | Ensembl ].
VAR_046687
Natural varianti420 – 4201R → C in CMSEA; impaired activity. 1 Publication
VAR_011669
Natural varianti441 – 4411E → K in CMSEA; completely lack activity. 1 Publication
Corresponds to variant rs28930070 [ dbSNP | Ensembl ].
VAR_011670
Natural varianti461 – 4611V → M.4 Publications
Corresponds to variant rs4838544 [ dbSNP | Ensembl ].
VAR_046688
Natural varianti482 – 4821R → G in CMSEA; impaired activity. 1 Publication
Corresponds to variant rs28929481 [ dbSNP | Ensembl ].
VAR_011671
Natural varianti498 – 4981S → L in CMSEA; impaired activity. 1 Publication
VAR_011672
Natural varianti506 – 5061V → L in CMSEA; impaired activity. 1 Publication
VAR_011673
Natural varianti560 – 5601R → H in CMSEA; impaired activity. 1 Publication
VAR_011674

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 118118Missing in isoform R. 2 PublicationsVSP_000791Add
BLAST
Alternative sequencei1 – 9595MGLRT…EPRRA → MWPECRDEALSTV in isoform S. 1 PublicationVSP_000790Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S56138 mRNA. Translation: AAA14245.1.
AF305907 mRNA. Translation: AAK08953.1.
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA. Translation: AAK08950.1.
AF305908 mRNA. Translation: AAK08954.1.
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA. Translation: AAK08951.1.
AF305909 mRNA. Translation: AAK08955.1.
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA. Translation: AAK08952.1.
AC073366 Genomic DNA. No translation available.
CH471187 Genomic DNA. Translation: EAW93086.1.
BC130615 mRNA. Translation: AAI30616.1.
BC130617 mRNA. Translation: AAI30618.1.
S45018 mRNA. Translation: AAB23557.2.
X56585 Genomic DNA. Translation: CAA39923.1.
X56879 Genomic DNA. Translation: CAA40201.1.
CCDSiCCDS44389.1. [P28329-2]
CCDS7232.1. [P28329-1]
CCDS7233.1. [P28329-3]
PIRiI52631. A60202.
RefSeqiNP_001136401.1. NM_001142929.1.
NP_001136405.1. NM_001142933.1.
NP_001136406.1. NM_001142934.1.
NP_065574.3. NM_020549.4.
NP_066264.3. NM_020984.3.
NP_066265.3. NM_020985.3.
NP_066266.3. NM_020986.3.
UniGeneiHs.302002.

Genome annotation databases

EnsembliENST00000337653; ENSP00000337103; ENSG00000070748. [P28329-1]
ENST00000339797; ENSP00000343486; ENSG00000070748. [P28329-3]
ENST00000351556; ENSP00000345878; ENSG00000070748. [P28329-3]
ENST00000395559; ENSP00000378926; ENSG00000070748. [P28329-3]
ENST00000395562; ENSP00000378929; ENSG00000070748. [P28329-2]
GeneIDi1103.
KEGGihsa:1103.
UCSCiuc001jhz.2. human. [P28329-1]

Polymorphism databases

DMDMi281185509.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Choline acetyltransferase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S56138 mRNA. Translation: AAA14245.1 .
AF305907 mRNA. Translation: AAK08953.1 .
AF305906
, AF305894 , AF305895 , AF305896 , AF305897 , AF305898 , AF305899 , AF305900 , AF305901 , AF305902 , AF305903 , AF305904 , AF305905 Genomic DNA. Translation: AAK08950.1 .
AF305908 mRNA. Translation: AAK08954.1 .
AF305906
, AF305894 , AF305895 , AF305896 , AF305897 , AF305898 , AF305899 , AF305900 , AF305901 , AF305902 , AF305903 , AF305904 , AF305905 Genomic DNA. Translation: AAK08951.1 .
AF305909 mRNA. Translation: AAK08955.1 .
AF305906
, AF305894 , AF305895 , AF305896 , AF305897 , AF305898 , AF305899 , AF305900 , AF305901 , AF305902 , AF305903 , AF305904 , AF305905 Genomic DNA. Translation: AAK08952.1 .
AC073366 Genomic DNA. No translation available.
CH471187 Genomic DNA. Translation: EAW93086.1 .
BC130615 mRNA. Translation: AAI30616.1 .
BC130617 mRNA. Translation: AAI30618.1 .
S45018 mRNA. Translation: AAB23557.2 .
X56585 Genomic DNA. Translation: CAA39923.1 .
X56879 Genomic DNA. Translation: CAA40201.1 .
CCDSi CCDS44389.1. [P28329-2 ]
CCDS7232.1. [P28329-1 ]
CCDS7233.1. [P28329-3 ]
PIRi I52631. A60202.
RefSeqi NP_001136401.1. NM_001142929.1.
NP_001136405.1. NM_001142933.1.
NP_001136406.1. NM_001142934.1.
NP_065574.3. NM_020549.4.
NP_066264.3. NM_020984.3.
NP_066265.3. NM_020985.3.
NP_066266.3. NM_020986.3.
UniGenei Hs.302002.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2FY2 X-ray 2.25 A 120-733 [» ]
2FY3 X-ray 2.27 A 120-733 [» ]
2FY4 X-ray 2.30 A 120-733 [» ]
2FY5 X-ray 2.60 A 120-733 [» ]
ProteinModelPortali P28329.
SMRi P28329. Positions 126-727.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000337103.

Chemistry

BindingDBi P28329.
ChEMBLi CHEMBL4039.
DrugBanki DB00122. Choline.
DB00184. Nicotine.

PTM databases

PhosphoSitei P28329.

Polymorphism databases

DMDMi 281185509.

Proteomic databases

PaxDbi P28329.
PRIDEi P28329.

Protocols and materials databases

DNASUi 1103.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337653 ; ENSP00000337103 ; ENSG00000070748 . [P28329-1 ]
ENST00000339797 ; ENSP00000343486 ; ENSG00000070748 . [P28329-3 ]
ENST00000351556 ; ENSP00000345878 ; ENSG00000070748 . [P28329-3 ]
ENST00000395559 ; ENSP00000378926 ; ENSG00000070748 . [P28329-3 ]
ENST00000395562 ; ENSP00000378929 ; ENSG00000070748 . [P28329-2 ]
GeneIDi 1103.
KEGGi hsa:1103.
UCSCi uc001jhz.2. human. [P28329-1 ]

Organism-specific databases

CTDi 1103.
GeneCardsi GC10P050817.
GeneReviewsi CHAT.
HGNCi HGNC:1912. CHAT.
HPAi CAB002313.
HPA048547.
MIMi 118490. gene.
254210. phenotype.
neXtProti NX_P28329.
Orphaneti 98914. Presynaptic congenital myasthenic syndromes.
PharmGKBi PA26448.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70127.
GeneTreei ENSGT00760000119220.
HOGENOMi HOG000233845.
HOVERGENi HBG107717.
InParanoidi P28329.
KOi K00623.
OMAi HVIVACC.
OrthoDBi EOG7WHH90.
PhylomeDBi P28329.
TreeFami TF313836.

Enzyme and pathway databases

Reactomei REACT_121238. Synthesis of PC.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
SABIO-RK P28329.

Miscellaneous databases

EvolutionaryTracei P28329.
GeneWikii Choline_acetyltransferase.
GenomeRNAii 1103.
NextBioi 35460981.
PROi P28329.
SOURCEi Search...

Gene expression databases

Bgeei P28329.
CleanExi HS_CHAT.
ExpressionAtlasi P28329. baseline.
Genevestigatori P28329.

Family and domain databases

InterProi IPR000542. Carn_acyl_trans.
[Graphical view ]
PANTHERi PTHR22589. PTHR22589. 1 hit.
Pfami PF00755. Carn_acyltransf. 1 hit.
[Graphical view ]
PROSITEi PS00439. ACYLTRANSF_C_1. 1 hit.
PS00440. ACYLTRANSF_C_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells."
    Oda Y., Nakanishi I., Deguchi T.
    Brain Res. Mol. Brain Res. 16:287-294(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM M), VARIANTS GLY-392 AND MET-461.
    Tissue: Spinal cord.
  2. "Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans."
    Ohno K., Tsujino A., Brengman J.M., Harper C.M., Bajzer Z., Udd B., Beyring R., Robb S., Kirkham F.J., Engel A.G.
    Proc. Natl. Acad. Sci. U.S.A. 98:2017-2022(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS M; R AND S), ALTERNATIVE SPLICING, VARIANTS CMSEA PRO-210; ALA-211; THR-305; CYS-420; LYS-441; GLY-482; LEU-498; LEU-506 AND HIS-560, VARIANTS THR-120; GLY-392 AND MET-461.
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM R), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 108-748 (ISOFORM M), VARIANTS THR-120 AND MET-461.
  6. "Two mRNAs are transcribed from the human gene for choline acetyltransferase."
    Lorenzi M.V., Trinidad A.C., Zhang R., Strauss W.L.
    DNA Cell Biol. 11:593-603(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 111-669, VARIANTS THR-120 AND MET-461.
  7. "Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions."
    Toussaint J.L., Geoffroy V., Schmitt M., Werner A., Garnier J.-M., Simoni P., Kempf J.
    Genomics 12:412-416(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 109-232.
  8. "Conservation of amino acid sequences between human and porcine choline acetyltransferase."
    Hersh L.B., Takane K., Gylys K., Moomaw C., Slaughter C.
    J. Neurochem. 51:1843-1845(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 161-182; 271-295; 340-352; 376-382; 404-415; 550-559; 572-583; 620-632; 644-648; 650-662 AND 739-748.
    Tissue: Placenta.
  9. "Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyltransferase gene."
    Cervini R., Rocchi M., DiDonato S., Finocchiaro G.
    Neurosci. Lett. 132:191-194(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 688-738.
    Tissue: Lymphocyte.
  10. "Substrate binding and catalytic mechanism of human choline acetyltransferase."
    Kim A.-R., Rylett R.J., Shilton B.H.
    Biochemistry 45:14621-14631(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 120-733 IN COMPLEXES WITH CHOLINE AND ACETYL COENZYME A.
  11. "Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation."
    Kraner S., Laufenberg I., Strassburg H.M., Sieb J.P., Steinlein O.K.
    Arch. Neurol. 60:761-763(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMSEA THR-336.

Entry informationi

Entry nameiCLAT_HUMAN
AccessioniPrimary (citable) accession number: P28329
Secondary accession number(s): A2BDF4
, A2BDF5, Q16488, Q9BQ23, Q9BQ35, Q9BQE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 15, 2009
Last modified: November 26, 2014
This is version 146 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3