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Protein

Cholinesterase

Gene

BCHE

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

Functioni

Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.2 Publications

Catalytic activityi

An acylcholine + H2O = choline + a carboxylate.2 Publications

Enzyme regulationi

Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging.3 Publications

Kineticsi

  1. KM=18.0 µM for butyrylthiocholine (at 25 degrees Celsius)1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei110TacrineCombined sources1
    Active sitei226Acyl-ester intermediatePROSITE-ProRule annotation1 Publication1
    Active sitei353Charge relay system1 Publication1
    Active sitei466Charge relay system1 Publication1
    Binding sitei466Tacrine; via carbonyl oxygenCombined sources1

    GO - Molecular functioni

    • acetylcholinesterase activity Source: UniProtKB
    • amyloid-beta binding Source: UniProtKB
    • catalytic activity Source: UniProtKB
    • choline binding Source: Ensembl
    • cholinesterase activity Source: UniProtKB
    • enzyme binding Source: UniProtKB
    • hydrolase activity, acting on ester bonds Source: Reactome
    • identical protein binding Source: IntAct

    GO - Biological processi

    Keywordsi

    Molecular functionHydrolase, Serine esterase
    LigandSialic acid

    Enzyme and pathway databases

    BRENDAi3.1.1.8 2681
    ReactomeiR-HSA-112311 Neurotransmitter clearance
    R-HSA-1483191 Synthesis of PC
    R-HSA-422085 Synthesis, secretion, and deacylation of Ghrelin
    SABIO-RKiP06276
    SIGNORiP06276

    Protein family/group databases

    ESTHERihuman-BCHE BCHE
    MEROPSiS09.980

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cholinesterase (EC:3.1.1.8)
    Alternative name(s):
    Acylcholine acylhydrolase
    Butyrylcholine esterase
    Choline esterase II
    Pseudocholinesterase
    Gene namesi
    Name:BCHE
    Synonyms:CHE1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 3

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000114200.9
    HGNCiHGNC:983 BCHE
    MIMi177400 gene
    neXtProtiNX_P06276

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Butyrylcholinesterase deficiency (BCHED)24 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.
    See also OMIM:617936
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_04001132Missing in BCHED. 1 Publication1
    Natural variantiVAR_04001252T → M in BCHED. 1 PublicationCorresponds to variant dbSNP:rs56309853Ensembl.1
    Natural variantiVAR_04001356F → I in BCHED. 1 PublicationCorresponds to variant dbSNP:rs531738678Ensembl.1
    Natural variantiVAR_04001461Y → C in BCHED; enzymatically inactive in the plasma. 1 PublicationCorresponds to variant dbSNP:rs116097205Ensembl.1
    Natural variantiVAR_07273062A → V in BCHED; reduced enzyme activity with butyrylthiocholine as substrate; inactive with butyrylthiocholine as substrate in the presence of G-98; 2-fold lower affinity for butyrylthiocholine; 10-fold lower affinity for butyrylthiocholine in the presence of G-98. 1 Publication1
    Natural variantiVAR_04001565P → S in BCHED; seems to cause reduced expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs148170012Ensembl.1
    Natural variantiVAR_00236098D → G in BCHED; atypical form; reduced enzyme activity with butyrylthiocholine as substrate; inactive with butyrylthiocholine as substrate in the presence of V-62; 2-fold lower affinity for butyrylthiocholine; 10-fold lower affinity for butyrylthiocholine in the presence of V-62 or at homozygosity. 6 PublicationsCorresponds to variant dbSNP:rs1799807EnsemblClinVar.1
    Natural variantiVAR_04001698D → H in BCHED. 1 Publication1
    Natural variantiVAR_072095103G → R in BCHED; reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs979653503Ensembl.1
    Natural variantiVAR_072096118E → D in BCHED; the mutant undergoes rapid degradation. 2 Publications1
    Natural variantiVAR_040017124N → Y in BCHED. 1 Publication1
    Natural variantiVAR_040018128P → S in BCHED. 1 PublicationCorresponds to variant dbSNP:rs3732880Ensembl.1
    Natural variantiVAR_040019143G → D in BCHED. 1 PublicationCorresponds to variant dbSNP:rs201820739EnsemblClinVar.1
    Natural variantiVAR_040020153L → F in BCHED; seems to cause reduced expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs747598704Ensembl.1
    Natural variantiVAR_040021156Y → C in BCHED. 1 PublicationCorresponds to variant dbSNP:rs121918558EnsemblClinVar.1
    Natural variantiVAR_040022170V → M in BCHED; allele H variant. 1 PublicationCorresponds to variant dbSNP:rs527843566Ensembl.1
    Natural variantiVAR_040023198D → E in BCHED; seems to cause reduced expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs781368801Ensembl.1
    Natural variantiVAR_040024226S → G in BCHED; enzymatically inactive in the plasma. 1 PublicationCorresponds to variant dbSNP:rs370077923Ensembl.1
    Natural variantiVAR_040025227A → V in BCHED. 1 Publication1
    Natural variantiVAR_040026229A → T in BCHED; enzymatically inactive in the plasma. 1 Publication1
    Natural variantiVAR_072098232V → D in BCHED. 1 Publication1
    Natural variantiVAR_040027271T → M in BCHED; allele fluoride-1. 2 PublicationsCorresponds to variant dbSNP:rs28933389EnsemblClinVar.1
    Natural variantiVAR_040028278T → P in BCHED. 2 PublicationsCorresponds to variant dbSNP:rs892642457Ensembl.1
    Natural variantiVAR_040030295K → R in BCHED. 1 PublicationCorresponds to variant dbSNP:rs115624085EnsemblClinVar.1
    Natural variantiVAR_040031335L → P in BCHED; expressed at very low level. 1 PublicationCorresponds to variant dbSNP:rs104893684EnsemblClinVar.1
    Natural variantiVAR_040032356A → D in BCHED. 1 PublicationCorresponds to variant dbSNP:rs770337031Ensembl.1
    Natural variantiVAR_002362358L → I in BCHED; BChE variant form; fluoride-resistant. 4 PublicationsCorresponds to variant dbSNP:rs121918557EnsemblClinVar.1
    Natural variantiVAR_072100361G → C in BCHED; results in 20% of activity compared to wild-type. 1 Publication1
    Natural variantiVAR_040033393G → R in BCHED. 4 PublicationsCorresponds to variant dbSNP:rs115129687EnsemblClinVar.1
    Natural variantiVAR_040034414R → C in BCHED. 2 PublicationsCorresponds to variant dbSNP:rs745364489Ensembl.1
    Natural variantiVAR_040035418G → V in BCHED; allele fluoride-2. 1 PublicationCorresponds to variant dbSNP:rs28933390EnsemblClinVar.1
    Natural variantiVAR_040036446F → S in BCHED. 2 Publications1
    Natural variantiVAR_040037488E → K in BCHED. 1 PublicationCorresponds to variant dbSNP:rs200998515Ensembl.1
    Natural variantiVAR_040038499W → R in BCHED; seems to cause reduced expression of the protein. 1 Publication1
    Natural variantiVAR_040039502F → L in BCHED. 1 PublicationCorresponds to variant dbSNP:rs769316835Ensembl.1
    Natural variantiVAR_040040525E → V in BCHED; allele J variant. 1 PublicationCorresponds to variant dbSNP:rs121918556EnsemblClinVar.1
    Natural variantiVAR_040041543R → C in BCHED. 3 PublicationsCorresponds to variant dbSNP:rs199660374Ensembl.1
    Natural variantiVAR_040042546Q → L in BCHED; seems to cause reduced expression of the protein. 1 Publication1
    Natural variantiVAR_002364567A → T in BCHED; allele K variant; with reduced enzyme activity. 4 PublicationsCorresponds to variant dbSNP:rs1803274EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi590
    MalaCardsiBCHE
    MIMi617936 phenotype
    OpenTargetsiENSG00000114200
    Orphaneti132 Butyrylcholinesterase deficiency
    413693 Curariform drugs toxicity
    PharmGKBiPA25294

    Chemistry databases

    ChEMBLiCHEMBL1914
    DrugBankiDB08200 (1R)-MENTHYL HEXYL PHOSPHONATE GROUP
    DB08201 (1S)-MENTHYL HEXYL PHOSPHONATE GROUP
    DB03814 2-(N-Morpholino)-Ethanesulfonic Acid
    DB03672 9-N-Phenylmethylamino-Tacrine
    DB08897 Aclidinium
    DB01122 Ambenonium
    DB01408 Bambuterol
    DB03568 Butyric Acid
    DB04250 Butyrylthiocholine
    DB06774 Capsaicin
    DB01161 Chloroprocaine
    DB00856 Chlorphenesin
    DB00477 Chlorpromazine
    DB00122 Choline
    DB00527 Cinchocaine
    DB00515 Cisplatin
    DB04920 Clevidipine
    DB00979 Cyclopentolate
    DB01245 Decamethonium
    DB00944 Demecarium
    DB00711 Diethylcarbamazine
    DB02811 Diethylphosphono Group
    DB00449 Dipivefrin
    DB07681 DODECANESULFONATE ION
    DB01135 Doxacurium chloride
    DB01395 Drospirenone
    DB01525 Ecgonine
    DB01057 Echothiophate
    DB01010 Edrophonium
    DB01364 Ephedrine
    DB00392 Ethopropazine
    DB03822 Ethyl Dihydrogen Phosphate
    DB08658 ETHYL HYDROGEN DIETHYLAMIDOPHOSPHATE
    DB00674 Galantamine
    DB06756 Glycine betaine
    DB00941 Hexafluronium
    DB00762 Irinotecan
    DB00677 Isoflurophate
    DB00772 Malathion
    DB00358 Mefloquine
    DB02845 Methylphosphinic Acid
    DB08893 Mirabegron
    DB01226 Mivacurium
    DB04251 Monoisopropyl Ester Phosphonic Acid Group
    DB01400 Neostigmine
    DB00585 Nizatidine
    DB00892 Oxybuprocaine
    DB01337 Pancuronium
    DB00082 Pegvisomant
    DB00183 Pentagastrin
    DB00790 Perindopril
    DB04892 Phenserine
    DB01338 Pipecuronium
    DB00733 Pralidoxime
    DB01035 Procainamide
    DB00721 Procaine
    DB00545 Pyridostigmine
    DB00178 Ramipril
    DB05386 recombinant human GM-CSF
    DB00989 Rivastigmine
    DB05875 substance P
    DB00202 Succinylcholine
    DB00391 Sulpiride
    DB00382 Tacrine
    DB00871 Terbutaline
    DB00620 Triamcinolone
    DB00508 Triflupromazine
    DB01116 Trimethaphan
    GuidetoPHARMACOLOGYi2471

    Polymorphism and mutation databases

    BioMutaiBCHE
    DMDMi116353

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Signal peptidei1 – 282 PublicationsAdd BLAST28
    ChainiPRO_000000861329 – 602CholinesteraseAdd BLAST574

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi45N-linked (GlcNAc...) (complex) asparagine2 Publications1
    Glycosylationi85N-linked (GlcNAc...) (complex) asparagine9 Publications1
    Disulfide bondi93 ↔ 120
    Glycosylationi134N-linked (GlcNAc...) (complex) asparagine9 Publications1
    Modified residuei226Phosphoserine1 Publication1
    Glycosylationi269N-linked (GlcNAc...) (complex) asparagine6 Publications1
    Disulfide bondi280 ↔ 291
    Glycosylationi284N-linked (GlcNAc...) (complex) asparagine6 Publications1
    Glycosylationi369N-linked (GlcNAc...) (complex) asparagine9 Publications1
    Disulfide bondi428 ↔ 547
    Glycosylationi483N-linked (GlcNAc...) (complex) asparagine2 Publications1
    Glycosylationi509N-linked (GlcNAc...) asparagine3 Publications1
    Glycosylationi513N-linked (GlcNAc...) asparagine7 Publications1
    Glycosylationi514N-linked (GlcNAc...) asparagine3 Publications1
    Disulfide bondi599Interchain

    Post-translational modificationi

    N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.12 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    EPDiP06276
    MaxQBiP06276
    PaxDbiP06276
    PeptideAtlasiP06276
    PRIDEiP06276
    ProteomicsDBi51880

    PTM databases

    iPTMnetiP06276
    PhosphoSitePlusiP06276

    Expressioni

    Tissue specificityi

    Detected in blood plasma (at protein level). Present in most cells except erythrocytes.2 Publications

    Gene expression databases

    BgeeiENSG00000114200
    CleanExiHS_BCHE
    ExpressionAtlasiP06276 baseline and differential
    GenevisibleiP06276 HS

    Organism-specific databases

    HPAiHPA001560

    Interactioni

    Subunit structurei

    Homotetramer; disulfide-linked. Dimer of dimers.8 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself8EBI-7936069,EBI-7936069

    GO - Molecular functioni

    • enzyme binding Source: UniProtKB
    • identical protein binding Source: IntAct

    Protein-protein interaction databases

    BioGridi107064, 40 interactors
    DIPiDIP-46476N
    IntActiP06276, 1 interactor
    MINTiP06276
    STRINGi9606.ENSP00000264381

    Chemistry databases

    BindingDBiP06276

    Structurei

    Secondary structure

    1602
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi33 – 36Combined sources4
    Beta strandi39 – 42Combined sources4
    Beta strandi44 – 48Combined sources5
    Beta strandi51 – 60Combined sources10
    Helixi67 – 69Combined sources3
    Beta strandi82 – 85Combined sources4
    Helixi105 – 108Combined sources4
    Beta strandi116 – 118Combined sources3
    Beta strandi122 – 130Combined sources9
    Beta strandi133 – 141Combined sources9
    Turni145 – 147Combined sources3
    Helixi154 – 156Combined sources3
    Helixi159 – 165Combined sources7
    Beta strandi168 – 172Combined sources5
    Helixi177 – 181Combined sources5
    Beta strandi190 – 192Combined sources3
    Helixi194 – 209Combined sources16
    Helixi210 – 213Combined sources4
    Beta strandi215 – 225Combined sources11
    Helixi227 – 237Combined sources11
    Helixi239 – 244Combined sources6
    Beta strandi246 – 252Combined sources7
    Turni258 – 260Combined sources3
    Helixi264 – 277Combined sources14
    Helixi285 – 292Combined sources8
    Helixi297 – 304Combined sources8
    Helixi305 – 307Combined sources3
    Beta strandi308 – 310Combined sources3
    Beta strandi324 – 326Combined sources3
    Helixi331 – 336Combined sources6
    Beta strandi345 – 350Combined sources6
    Beta strandi352 – 354Combined sources3
    Helixi355 – 358Combined sources4
    Turni359 – 361Combined sources3
    Beta strandi367 – 369Combined sources3
    Helixi375 – 385Combined sources11
    Beta strandi387 – 389Combined sources3
    Helixi391 – 401Combined sources11
    Turni405 – 408Combined sources4
    Helixi412 – 425Combined sources14
    Helixi427 – 438Combined sources12
    Turni439 – 441Combined sources3
    Beta strandi444 – 449Combined sources6
    Helixi460 – 462Combined sources3
    Turni466 – 469Combined sources4
    Helixi470 – 473Combined sources4
    Helixi476 – 478Combined sources3
    Helixi480 – 482Combined sources3
    Helixi486 – 505Combined sources20
    Turni511 – 514Combined sources4
    Turni523 – 525Combined sources3
    Beta strandi527 – 531Combined sources5
    Beta strandi538 – 541Combined sources4
    Helixi544 – 551Combined sources8
    Turni552 – 555Combined sources4

    3D structure databases

    ProteinModelPortaliP06276
    SMRiP06276
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP06276

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni144 – 145Substrate binding2

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiKOG4389 Eukaryota
    COG2272 LUCA
    GeneTreeiENSGT00760000118946
    HOVERGENiHBG008839
    InParanoidiP06276
    KOiK01050
    OMAiGNNAFFY
    OrthoDBiEOG091G0I4G
    PhylomeDBiP06276
    TreeFamiTF315470

    Family and domain databases

    Gene3Di3.40.50.1820, 1 hit
    InterProiView protein in InterPro
    IPR029058 AB_hydrolase
    IPR014788 AChE_tetra
    IPR002018 CarbesteraseB
    IPR019826 Carboxylesterase_B_AS
    IPR019819 Carboxylesterase_B_CS
    IPR000997 Cholinesterase
    PfamiView protein in Pfam
    PF08674 AChE_tetra, 1 hit
    PF00135 COesterase, 1 hit
    PRINTSiPR00878 CHOLNESTRASE
    ProDomiView protein in ProDom or Entries sharing at least one domain
    PD415333 AChE_tetra, 1 hit
    SUPFAMiSSF53474 SSF53474, 1 hit
    PROSITEiView protein in PROSITE
    PS00122 CARBOXYLESTERASE_B_1, 1 hit
    PS00941 CARBOXYLESTERASE_B_2, 1 hit

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P06276-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MHSKVTIICI RFLFWFLLLC MLIGKSHTED DIIIATKNGK VRGMNLTVFG
    60 70 80 90 100
    GTVTAFLGIP YAQPPLGRLR FKKPQSLTKW SDIWNATKYA NSCCQNIDQS
    110 120 130 140 150
    FPGFHGSEMW NPNTDLSEDC LYLNVWIPAP KPKNATVLIW IYGGGFQTGT
    160 170 180 190 200
    SSLHVYDGKF LARVERVIVV SMNYRVGALG FLALPGNPEA PGNMGLFDQQ
    210 220 230 240 250
    LALQWVQKNI AAFGGNPKSV TLFGESAGAA SVSLHLLSPG SHSLFTRAIL
    260 270 280 290 300
    QSGSFNAPWA VTSLYEARNR TLNLAKLTGC SRENETEIIK CLRNKDPQEI
    310 320 330 340 350
    LLNEAFVVPY GTPLSVNFGP TVDGDFLTDM PDILLELGQF KKTQILVGVN
    360 370 380 390 400
    KDEGTAFLVY GAPGFSKDNN SIITRKEFQE GLKIFFPGVS EFGKESILFH
    410 420 430 440 450
    YTDWVDDQRP ENYREALGDV VGDYNFICPA LEFTKKFSEW GNNAFFYYFE
    460 470 480 490 500
    HRSSKLPWPE WMGVMHGYEI EFVFGLPLER RDNYTKAEEI LSRSIVKRWA
    510 520 530 540 550
    NFAKYGNPNE TQNNSTSWPV FKSTEQKYLT LNTESTRIMT KLRAQQCRFW
    560 570 580 590 600
    TSFFPKVLEM TGNIDEAEWE WKAGFHRWNN YMMDWKNQFN DYTSKKESCV

    GL
    Length:602
    Mass (Da):68,418
    Last modified:August 1, 1988 - v1
    Checksum:iC9836409D9057F27
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_04001132Missing in BCHED. 1 Publication1
    Natural variantiVAR_07209440K → R Rare polymorphism; does not affect enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs116047990Ensembl.1
    Natural variantiVAR_04001252T → M in BCHED. 1 PublicationCorresponds to variant dbSNP:rs56309853Ensembl.1
    Natural variantiVAR_04001356F → I in BCHED. 1 PublicationCorresponds to variant dbSNP:rs531738678Ensembl.1
    Natural variantiVAR_04001461Y → C in BCHED; enzymatically inactive in the plasma. 1 PublicationCorresponds to variant dbSNP:rs116097205Ensembl.1
    Natural variantiVAR_07273062A → V in BCHED; reduced enzyme activity with butyrylthiocholine as substrate; inactive with butyrylthiocholine as substrate in the presence of G-98; 2-fold lower affinity for butyrylthiocholine; 10-fold lower affinity for butyrylthiocholine in the presence of G-98. 1 Publication1
    Natural variantiVAR_04001565P → S in BCHED; seems to cause reduced expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs148170012Ensembl.1
    Natural variantiVAR_00236098D → G in BCHED; atypical form; reduced enzyme activity with butyrylthiocholine as substrate; inactive with butyrylthiocholine as substrate in the presence of V-62; 2-fold lower affinity for butyrylthiocholine; 10-fold lower affinity for butyrylthiocholine in the presence of V-62 or at homozygosity. 6 PublicationsCorresponds to variant dbSNP:rs1799807EnsemblClinVar.1
    Natural variantiVAR_04001698D → H in BCHED. 1 Publication1
    Natural variantiVAR_072095103G → R in BCHED; reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs979653503Ensembl.1
    Natural variantiVAR_072096118E → D in BCHED; the mutant undergoes rapid degradation. 2 Publications1
    Natural variantiVAR_040017124N → Y in BCHED. 1 Publication1
    Natural variantiVAR_072097127I → M Rare polymorphism; does not affect enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs755600722Ensembl.1
    Natural variantiVAR_040018128P → S in BCHED. 1 PublicationCorresponds to variant dbSNP:rs3732880Ensembl.1
    Natural variantiVAR_040019143G → D in BCHED. 1 PublicationCorresponds to variant dbSNP:rs201820739EnsemblClinVar.1
    Natural variantiVAR_040020153L → F in BCHED; seems to cause reduced expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs747598704Ensembl.1
    Natural variantiVAR_040021156Y → C in BCHED. 1 PublicationCorresponds to variant dbSNP:rs121918558EnsemblClinVar.1
    Natural variantiVAR_040022170V → M in BCHED; allele H variant. 1 PublicationCorresponds to variant dbSNP:rs527843566Ensembl.1
    Natural variantiVAR_040023198D → E in BCHED; seems to cause reduced expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs781368801Ensembl.1
    Natural variantiVAR_040024226S → G in BCHED; enzymatically inactive in the plasma. 1 PublicationCorresponds to variant dbSNP:rs370077923Ensembl.1
    Natural variantiVAR_040025227A → V in BCHED. 1 Publication1
    Natural variantiVAR_040026229A → T in BCHED; enzymatically inactive in the plasma. 1 Publication1
    Natural variantiVAR_072098232V → D in BCHED. 1 Publication1
    Natural variantiVAR_040027271T → M in BCHED; allele fluoride-1. 2 PublicationsCorresponds to variant dbSNP:rs28933389EnsemblClinVar.1
    Natural variantiVAR_040028278T → P in BCHED. 2 PublicationsCorresponds to variant dbSNP:rs892642457Ensembl.1
    Natural variantiVAR_040029283E → D. Corresponds to variant dbSNP:rs16849700EnsemblClinVar.1
    Natural variantiVAR_040030295K → R in BCHED. 1 PublicationCorresponds to variant dbSNP:rs115624085EnsemblClinVar.1
    Natural variantiVAR_072099322V → M Rare polymorphism; does not affect enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs754644618Ensembl.1
    Natural variantiVAR_040031335L → P in BCHED; expressed at very low level. 1 PublicationCorresponds to variant dbSNP:rs104893684EnsemblClinVar.1
    Natural variantiVAR_040032356A → D in BCHED. 1 PublicationCorresponds to variant dbSNP:rs770337031Ensembl.1
    Natural variantiVAR_002362358L → I in BCHED; BChE variant form; fluoride-resistant. 4 PublicationsCorresponds to variant dbSNP:rs121918557EnsemblClinVar.1
    Natural variantiVAR_072100361G → C in BCHED; results in 20% of activity compared to wild-type. 1 Publication1
    Natural variantiVAR_040033393G → R in BCHED. 4 PublicationsCorresponds to variant dbSNP:rs115129687EnsemblClinVar.1
    Natural variantiVAR_040034414R → C in BCHED. 2 PublicationsCorresponds to variant dbSNP:rs745364489Ensembl.1
    Natural variantiVAR_040035418G → V in BCHED; allele fluoride-2. 1 PublicationCorresponds to variant dbSNP:rs28933390EnsemblClinVar.1
    Natural variantiVAR_040036446F → S in BCHED. 2 Publications1
    Natural variantiVAR_040037488E → K in BCHED. 1 PublicationCorresponds to variant dbSNP:rs200998515Ensembl.1
    Natural variantiVAR_072101498R → W Rare polymorphism; does not affect enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs115017300Ensembl.1
    Natural variantiVAR_040038499W → R in BCHED; seems to cause reduced expression of the protein. 1 Publication1
    Natural variantiVAR_040039502F → L in BCHED. 1 PublicationCorresponds to variant dbSNP:rs769316835Ensembl.1
    Natural variantiVAR_040040525E → V in BCHED; allele J variant. 1 PublicationCorresponds to variant dbSNP:rs121918556EnsemblClinVar.1
    Natural variantiVAR_040041543R → C in BCHED. 3 PublicationsCorresponds to variant dbSNP:rs199660374Ensembl.1
    Natural variantiVAR_040042546Q → L in BCHED; seems to cause reduced expression of the protein. 1 Publication1
    Natural variantiVAR_002364567A → T in BCHED; allele K variant; with reduced enzyme activity. 4 PublicationsCorresponds to variant dbSNP:rs1803274EnsemblClinVar.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    M32391, M32389, M32390 Genomic DNA Translation: AAA99296.1
    M16541 mRNA Translation: AAA98113.1
    M16474 mRNA Translation: AAA52015.1
    AK292063 mRNA Translation: BAF84752.1
    BC018141 mRNA Translation: AAH18141.1
    CCDSiCCDS3198.1
    PIRiA33769 ACHU
    RefSeqiNP_000046.1, NM_000055.3
    UniGeneiHs.420483

    Genome annotation databases

    EnsembliENST00000264381; ENSP00000264381; ENSG00000114200
    GeneIDi590
    KEGGihsa:590
    UCSCiuc003fem.5 human

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Entry informationi

    Entry nameiCHLE_HUMAN
    AccessioniPrimary (citable) accession number: P06276
    Secondary accession number(s): A8K7P8
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1988
    Last sequence update: August 1, 1988
    Last modified: July 18, 2018
    This is version 198 of the entry and version 1 of the sequence. See 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 3
      Human chromosome 3: 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

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