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P28329

- CLAT_HUMAN

UniProt

P28329 - CLAT_HUMAN

Protein

Choline O-acetyltransferase

Gene

CHAT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 4 (15 Dec 2009)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP28329.
    BgeeiP28329.
    CleanExiHS_CHAT.
    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 – 15012
    Helixi151 – 1533
    Helixi156 – 16914
    Helixi175 – 18915
    Beta strandi190 – 1923
    Helixi195 – 2028
    Turni203 – 2053
    Helixi210 – 2134
    Beta strandi217 – 2193
    Helixi228 – 25023
    Beta strandi261 – 2633
    Beta strandi265 – 2673
    Helixi271 – 2755
    Beta strandi276 – 2827
    Beta strandi285 – 2873
    Beta strandi289 – 2924
    Beta strandi300 – 3089
    Beta strandi311 – 3199
    Helixi326 – 34015
    Helixi343 – 3453
    Helixi350 – 3556
    Helixi358 – 36912
    Helixi372 – 38211
    Beta strandi387 – 3904
    Helixi400 – 40910
    Turni413 – 4186
    Beta strandi424 – 4307
    Beta strandi436 – 4405
    Beta strandi442 – 4443
    Helixi447 – 46115
    Helixi489 – 50820
    Beta strandi509 – 5168
    Helixi521 – 5255
    Turni526 – 5283
    Helixi531 – 54717
    Beta strandi553 – 5586
    Beta strandi567 – 5693
    Helixi575 – 58511
    Helixi587 – 5893
    Helixi593 – 61523
    Helixi621 – 63414
    Helixi640 – 6434
    Helixi645 – 6506
    Beta strandi654 – 6596
    Beta strandi663 – 6653
    Beta strandi667 – 6693
    Beta strandi678 – 6847
    Beta strandi689 – 6968
    Helixi704 – 72219

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MGLRTAKKRG LGGGGKWKRE EGGGTRGRRE VRPACFLQSG GRGDPGDVGG    50
    PAGNPGCSPH PRAATRPPPL PAHTPAHTPE WCGAASAEAA EPRRAGPHLC 100
    IPAPGLTKTP ILEKVPRKMA AKTPSSEESG LPKLPVPPLQ QTLATYLQCM 150
    RHLVSEEQFR KSQAIVQQFG APGGLGETLQ QKLLERQEKT ANWVSEYWLN 200
    DMYLNNRLAL PVNSSPAVIF ARQHFPGTDD QLRFAASLIS GVLSYKALLD 250
    SHSIPTDCAK GQLSGQPLCM KQYYGLFSSY RLPGHTQDTL VAQNSSIMPE 300
    PEHVIVACCN QFFVLDVVIN FRRLSEGDLF TQLRKIVKMA SNEDERLPPI 350
    GLLTSDGRSE WAEARTVLVK DSTNRDSLDM IERCICLVCL DAPGGVELSD 400
    THRALQLLHG GGYSKNGANR WYDKSLQFVV GRDGTCGVVC EHSPFDGIVL 450
    VQCTEHLLKH VTQSSRKLIR ADSVSELPAP RRLRWKCSPE IQGHLASSAE 500
    KLQRIVKNLD FIVYKFDNYG KTFIKKQKCS PDAFIQVALQ LAFYRLHRRL 550
    VPTYESASIR RFQEGRVDNI RSATPEALAF VRAVTDHKAA VPASEKLLLL 600
    KDAIRAQTAY TVMAITGMAI DNHLLALREL ARAMCKELPE MFMDETYLMS 650
    NRFVLSTSQV PTTTEMFCCY GPVVPNGYGA CYNPQPETIL FCISSFHSCK 700
    ETSSSKFAKA VEESLIDMRD LCSLLPPTES KPLATKEKAT RPSQGHQP 748
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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

    ChEMBLi CHEMBL4039.
    DrugBanki DB00122. Choline.

    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.
    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 4562.
    PROi P28329.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P28329.
    Bgeei P28329.
    CleanExi HS_CHAT.
    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

    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: October 1, 2014
    This is version 144 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