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Q04844

- ACHE_HUMAN

UniProt

Q04844 - ACHE_HUMAN

Protein

Acetylcholine receptor subunit epsilon

Gene

CHRNE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (01 Nov 1995)
      Previous versions | rss
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    Functioni

    After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

    GO - Molecular functioni

    1. acetylcholine-activated cation-selective channel activity Source: ProtInc
    2. acetylcholine receptor activity Source: ProtInc
    3. cation transmembrane transporter activity Source: ProtInc

    GO - Biological processi

    1. cation transport Source: GOC
    2. muscle contraction Source: ProtInc
    3. regulation of membrane potential Source: Ensembl
    4. signal transduction Source: ProtInc
    5. synaptic transmission Source: Reactome
    6. synaptic transmission, cholinergic Source: ProtInc
    7. transport Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22223. Highly sodium permeable acetylcholine nicotinic receptors.

    Protein family/group databases

    TCDBi1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acetylcholine receptor subunit epsilon
    Gene namesi
    Name:CHRNE
    Synonyms:ACHRE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:1966. CHRNE.

    Subcellular locationi

    GO - Cellular componenti

    1. acetylcholine-gated channel complex Source: ProtInc
    2. cell junction Source: UniProtKB-KW
    3. integral component of plasma membrane Source: ProtInc
    4. plasma membrane Source: Reactome
    5. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.
    Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti98 – 981L → P in SCCMS; rare example of recessive inheritance. 1 Publication
    Corresponds to variant rs28929768 [ dbSNP | Ensembl ].
    VAR_019567
    Natural varianti241 – 2411L → F in SCCMS; mild form with variable penetrance. 1 Publication
    Corresponds to variant rs28999110 [ dbSNP | Ensembl ].
    VAR_019568
    Natural varianti284 – 2841T → P in SCCMS; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist. 1 Publication
    VAR_000292
    Natural varianti289 – 2891L → F in SCCMS; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel. 2 Publications
    VAR_000293
    Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131G → R in FCCMS; impaired association with alpha CHRNA1 subunit of AChR. 1 Publication
    VAR_021213
    Natural varianti141 – 1411P → L in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh. 1 Publication
    VAR_000289
    Natural varianti163 – 1631S → L in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR. 1 Publication
    VAR_021214
    Natural varianti431 – 4311A → P in FCCMS; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics. 1 Publication
    VAR_021215
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti167 – 1671R → L in CMS-ACHRD; significantly reduced AChR expression. 1 Publication
    VAR_000290
    Natural varianti265 – 2651P → L in CMS-ACHRD; prolongs burst open duration 2-fold by slowing the rate of channel closing. 1 Publication
    VAR_000291
    Natural varianti331 – 3311R → W in CMS-ACHRD; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current. 1 Publication
    VAR_000294

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi254200. phenotype.
    601462. phenotype.
    608930. phenotype.
    608931. phenotype.
    Orphaneti98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBiPA26498.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Add
    BLAST
    Chaini21 – 493473Acetylcholine receptor subunit epsilonPRO_0000000329Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi86 – 861N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi148 ↔ 162By similarity
    Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ04844.
    PRIDEiQ04844.

    Expressioni

    Gene expression databases

    ArrayExpressiQ04844.
    BgeeiQ04844.
    CleanExiHS_CHRNE.
    GenevestigatoriQ04844.

    Interactioni

    Subunit structurei

    Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

    Protein-protein interaction databases

    BioGridi107567. 1 interaction.
    STRINGi9606.ENSP00000293780.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DF9model-A240-332[»]
    ProteinModelPortaliQ04844.
    SMRiQ04844. Positions 22-337, 418-485.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini21 – 239219ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini265 – 2728CytoplasmicSequence Analysis
    Topological domaini292 – 30615ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini329 – 456128CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini481 – 49313ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei240 – 26425HelicalSequence AnalysisAdd
    BLAST
    Transmembranei273 – 29119HelicalSequence AnalysisAdd
    BLAST
    Transmembranei307 – 32822HelicalSequence AnalysisAdd
    BLAST
    Transmembranei457 – 48024HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG291810.
    HOGENOMiHOG000006757.
    HOVERGENiHBG003756.
    InParanoidiQ04844.
    KOiK04817.
    OMAiAIYRSTC.
    OrthoDBiEOG7H7925.
    PhylomeDBiQ04844.
    TreeFamiTF315605.

    Family and domain databases

    Gene3Di1.20.120.370. 2 hits.
    2.70.170.10. 1 hit.
    InterProiIPR027361. Acetylcholine_rcpt_TM.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    IPR002394. Nicotinic_acetylcholine_rcpt.
    [Graphical view]
    PANTHERiPTHR18945. PTHR18945. 1 hit.
    PfamiPF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view]
    PRINTSiPR00254. NICOTINICR.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q04844-1 [UniParc]FASTAAdd to Basket

    « Hide

    MARAPLGVLL LLGLLGRGVG KNEELRLYHH LFNNYDPGSR PVREPEDTVT    50
    ISLKVTLTNL ISLNEKEETL TTSVWIGIDW QDYRLNYSKD DFGGIETLRV 100
    PSELVWLPEI VLENNIDGQF GVAYDANVLV YEGGSVTWLP PAIYRSVCAV 150
    EVTYFPFDWQ NCSLIFRSQT YNAEEVEFTF AVDNDGKTIN KIDIDTEAYT 200
    ENGEWAIDFC PGVIRRHHGG ATDGPGETDV IYSLIIRRKP LFYVINIIVP 250
    CVLISGLVLL AYFLPAQAGG QKCTVSINVL LAQTVFLFLI AQKIPETSLS 300
    VPLLGRFLIF VMVVATLIVM NCVIVLNVSQ RTPTTHAMSP RLRHVLLELL 350
    PRLLGSPPPP EAPRAASPPR RASSVGLLLR AEELILKKPR SELVFEGQRH 400
    RQGTWTAAFC QSLGAAAPEV RCCVDAVNFV AESTRDQEAT GEEVSDWVRM 450
    GNALDNICFW AALVLFSVGS SLIFLGAYFN RVPDLPYAPC IQP 493
    Length:493
    Mass (Da):54,697
    Last modified:November 1, 1995 - v2
    Checksum:iA34AF273AF8B31FE
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131G → R in FCCMS; impaired association with alpha CHRNA1 subunit of AChR. 1 Publication
    VAR_021213
    Natural varianti18 – 181G → V.
    Corresponds to variant rs4790235 [ dbSNP | Ensembl ].
    VAR_048170
    Natural varianti98 – 981L → P in SCCMS; rare example of recessive inheritance. 1 Publication
    Corresponds to variant rs28929768 [ dbSNP | Ensembl ].
    VAR_019567
    Natural varianti141 – 1411P → L in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh. 1 Publication
    VAR_000289
    Natural varianti163 – 1631S → L in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR. 1 Publication
    VAR_021214
    Natural varianti167 – 1671R → L in CMS-ACHRD; significantly reduced AChR expression. 1 Publication
    VAR_000290
    Natural varianti241 – 2411L → F in SCCMS; mild form with variable penetrance. 1 Publication
    Corresponds to variant rs28999110 [ dbSNP | Ensembl ].
    VAR_019568
    Natural varianti265 – 2651P → L in CMS-ACHRD; prolongs burst open duration 2-fold by slowing the rate of channel closing. 1 Publication
    VAR_000291
    Natural varianti284 – 2841T → P in SCCMS; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist. 1 Publication
    VAR_000292
    Natural varianti289 – 2891L → F in SCCMS; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel. 2 Publications
    VAR_000293
    Natural varianti331 – 3311R → W in CMS-ACHRD; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current. 1 Publication
    VAR_000294
    Natural varianti431 – 4311A → P in FCCMS; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics. 1 Publication
    VAR_021215

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66403 mRNA. Translation: CAA47030.1.
    AF105999 Genomic DNA. Translation: AAD24503.1.
    CH471108 Genomic DNA. Translation: EAW90395.1.
    CH471108 Genomic DNA. Translation: EAW90396.1.
    CCDSiCCDS11058.1.
    PIRiS34775.
    RefSeqiNP_000071.1. NM_000080.3.
    UniGeneiHs.654535.

    Genome annotation databases

    EnsembliENST00000293780; ENSP00000293780; ENSG00000108556.
    GeneIDi1145.
    KEGGihsa:1145.
    UCSCiuc002fzk.1. human.

    Polymorphism databases

    DMDMi1168301.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66403 mRNA. Translation: CAA47030.1 .
    AF105999 Genomic DNA. Translation: AAD24503.1 .
    CH471108 Genomic DNA. Translation: EAW90395.1 .
    CH471108 Genomic DNA. Translation: EAW90396.1 .
    CCDSi CCDS11058.1.
    PIRi S34775.
    RefSeqi NP_000071.1. NM_000080.3.
    UniGenei Hs.654535.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DF9 model - A 240-332 [» ]
    ProteinModelPortali Q04844.
    SMRi Q04844. Positions 22-337, 418-485.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107567. 1 interaction.
    STRINGi 9606.ENSP00000293780.

    Chemistry

    BindingDBi Q04844.
    ChEMBLi CHEMBL2362997.
    DrugBanki DB00674. Galantamine.
    GuidetoPHARMACOLOGYi 477.

    Protein family/group databases

    TCDBi 1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    Polymorphism databases

    DMDMi 1168301.

    Proteomic databases

    PaxDbi Q04844.
    PRIDEi Q04844.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293780 ; ENSP00000293780 ; ENSG00000108556 .
    GeneIDi 1145.
    KEGGi hsa:1145.
    UCSCi uc002fzk.1. human.

    Organism-specific databases

    CTDi 1145.
    GeneCardsi GC17M004801.
    GeneReviewsi CHRNE.
    H-InvDB HIX0027273.
    HGNCi HGNC:1966. CHRNE.
    MIMi 100725. gene.
    254200. phenotype.
    601462. phenotype.
    608930. phenotype.
    608931. phenotype.
    neXtProti NX_Q04844.
    Orphaneti 98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBi PA26498.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291810.
    HOGENOMi HOG000006757.
    HOVERGENi HBG003756.
    InParanoidi Q04844.
    KOi K04817.
    OMAi AIYRSTC.
    OrthoDBi EOG7H7925.
    PhylomeDBi Q04844.
    TreeFami TF315605.

    Enzyme and pathway databases

    Reactomei REACT_22223. Highly sodium permeable acetylcholine nicotinic receptors.

    Miscellaneous databases

    GeneWikii CHRNE.
    GenomeRNAii 1145.
    NextBioi 4764.
    PROi Q04844.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q04844.
    Bgeei Q04844.
    CleanExi HS_CHRNE.
    Genevestigatori Q04844.

    Family and domain databases

    Gene3Di 1.20.120.370. 2 hits.
    2.70.170.10. 1 hit.
    InterProi IPR027361. Acetylcholine_rcpt_TM.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    IPR002394. Nicotinic_acetylcholine_rcpt.
    [Graphical view ]
    PANTHERi PTHR18945. PTHR18945. 1 hit.
    Pfami PF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view ]
    PRINTSi PR00254. NICOTINICR.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits."
      Beeson D.M.W., Brydson M., Betty M., Jeremiah S., Povey S., Vincent A., Newsom-Davis J.
      Eur. J. Biochem. 215:229-238(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Muscle fibroblast.
    2. Abicht A., Stucka R., Lochmuller H.
      Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome."
      Gomez C.M., Gammack J.T.
      Neurology 45:982-985(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCMS PHE-289.
    5. "Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit."
      Ohno K., Hutchinson D.O., Milone M., Brengman J.M., Bouzat C., Sine S.M., Engel A.G.
      Proc. Natl. Acad. Sci. U.S.A. 92:758-762(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCMS PRO-284, CHARACTERIZATION OF VARIANT SCCMS PRO-284.
    6. "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome."
      Engel A.G., Ohno K., Milone M., Wang H.-L., Nakano S., Bouzat C., Pruitt J.N. II, Hutchinson D.O., Brengman J.M., Bren N., Sieb J.P., Sine S.M.
      Hum. Mol. Genet. 5:1217-1227(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCMS PHE-289, CHARACTERIZATION OF VARIANT SCCMS PHE-289.
    7. "Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit."
      Ohno K., Wang H.-L., Milone M., Bren N., Brengman J.M., Nakano S., Quiram P., Pruitt J.N. II, Sine S.M., Engel A.G.
      Neuron 17:157-170(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FCCMS ARG-13; LEU-141 AND LEU-163, CHARACTERIZATION OF VARIANTS FCCMS ARG-13; LEU-141 AND LEU-163.
    8. "Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations."
      Ohno K., Quiram P.A., Milone M., Wang H.-L., Harper M.C., Pruitt J.N. II, Brengman J.M., Pao L., Fischbeck K.H., Crawford T.O., Sine S.M., Engel A.G.
      Hum. Mol. Genet. 6:753-766(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMS-ACHRD LEU-167; LEU-265 AND TRP-331, CHARACTERIZATION OF VARIANTS CMS-ACHRD LEU-167; LEU-265 AND TRP-331.
    9. "Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome."
      Wang H.-L., Ohno K., Milone M., Brengman J.M., Evoli A., Batocchi A.-P., Middleton L.T., Christodoulou K., Engel A.G., Sine S.M.
      J. Gen. Physiol. 116:449-462(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FCCMS PRO-431, CHARACTERIZATION OF VARIANT FCCMS PRO-431.
    10. "Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes."
      Croxen R., Hatton C., Shelley C., Brydson M., Chauplannaz G., Oosterhuis H., Vincent A., Newsom-Davis J., Colquhoun D., Beeson D.
      Neurology 59:162-168(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCCMS PRO-98 AND PHE-241.

    Entry informationi

    Entry nameiACHE_HUMAN
    AccessioniPrimary (citable) accession number: Q04844
    Secondary accession number(s): D3DTK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1994
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 140 of the entry and version 2 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, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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