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Q64018

- GLRA1_MOUSE

UniProt

Q64018 - GLRA1_MOUSE

Protein

Glycine receptor subunit alpha-1

Gene

Glra1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (08 Dec 2000)
      Previous versions | rss
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    Functioni

    The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).

    GO - Molecular functioni

    1. extracellular-glycine-gated chloride channel activity Source: UniProtKB
    2. glycine binding Source: UniProtKB
    3. taurine binding Source: UniProtKB
    4. transmitter-gated ion channel activity Source: InterPro

    GO - Biological processi

    1. acrosome reaction Source: MGI
    2. action potential Source: MGI
    3. adult walking behavior Source: MGI
    4. chloride transmembrane transport Source: GOC
    5. chloride transport Source: UniProtKB
    6. ion transport Source: UniProtKB
    7. muscle contraction Source: UniProtKB
    8. negative regulation of transmission of nerve impulse Source: UniProtKB
    9. neuromuscular process Source: MGI
    10. neuromuscular process controlling posture Source: MGI
    11. neuropeptide signaling pathway Source: UniProtKB
    12. positive regulation of acrosome reaction Source: Ensembl
    13. regulation of inhibitory postsynaptic membrane potential Source: MGI
    14. regulation of membrane potential Source: MGI
    15. regulation of respiratory gaseous exchange Source: MGI
    16. regulation of respiratory gaseous exchange by neurological system process Source: MGI
    17. righting reflex Source: MGI
    18. startle response Source: UniProtKB
    19. synaptic transmission Source: MGI
    20. synaptic transmission, glycinergic Source: MGI
    21. visual perception Source: MGI

    Keywords - Molecular functioni

    Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_198558. Ligand-gated ion channel transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycine receptor subunit alpha-1
    Alternative name(s):
    Glycine receptor 48 kDa subunit
    Glycine receptor strychnine-binding subunit
    Gene namesi
    Name:Glra1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 11

    Organism-specific databases

    MGIiMGI:95747. Glra1.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. chloride channel complex Source: UniProtKB-KW
    3. external side of plasma membrane Source: MGI
    4. inhibitory synapse Source: MGI
    5. integral component of plasma membrane Source: UniProtKB
    6. intracellular Source: MGI
    7. intracellular membrane-bounded organelle Source: UniProtKB
    8. membrane Source: MGI
    9. postsynaptic membrane Source: MGI

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Glra1 are the cause of the spasmodic (spd) phenotype, a mouse mutant which resembles to the human neurological disease, hyperekplexia (or startle disease (STHE)).

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828By similarityAdd
    BLAST
    Chaini29 – 457429Glycine receptor subunit alpha-1PRO_0000000413Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi66 – 661N-linked (GlcNAc...)Curated
    Disulfide bondi166 ↔ 180By similarity
    Disulfide bondi226 ↔ 237By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiQ64018.

    PTM databases

    PhosphoSiteiQ64018.

    Expressioni

    Gene expression databases

    BgeeiQ64018.
    CleanExiMM_GLRA1.
    GenevestigatoriQ64018.

    Interactioni

    Subunit structurei

    Pentamer composed of three alpha and two beta subunits. Homopentamers of alpha subunits also form functional receptors.

    Structurei

    3D structure databases

    ProteinModelPortaliQ64018.
    SMRiQ64018. Positions 49-340, 416-453.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini29 – 247219ExtracellularCuratedAdd
    BLAST
    Topological domaini337 – 42892CytoplasmicCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei248 – 27427HelicalCuratedAdd
    BLAST
    Transmembranei281 – 29818HelicalCuratedAdd
    BLAST
    Transmembranei313 – 33624HelicalCuratedAdd
    BLAST
    Transmembranei429 – 44618HelicalCuratedAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni225 – 2306Strychnine-bindingBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG265706.
    GeneTreeiENSGT00550000074453.
    HOGENOMiHOG000231336.
    HOVERGENiHBG051707.
    InParanoidiQ5NCT8.
    OMAiNTANPVP.
    PhylomeDBiQ64018.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR008127. Glycine_rcpt_A.
    IPR008128. Glycine_rcpt_A1.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    [Graphical view]
    PANTHERiPTHR18945. PTHR18945. 1 hit.
    PfamiPF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 2 hits.
    [Graphical view]
    PRINTSiPR00253. GABAARECEPTR.
    PR01673. GLYRALPHA.
    PR01674. GLYRALPHA1.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsiTIGR00860. LIC. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform a (identifier: Q64018-1) [UniParc]FASTAAdd to Basket

    Also known as: Long

    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

    MYSFNTLRFY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS    50
    GYDARIRPNF KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR 100
    LAYNEYPDDS LDLDPSMLDS IWKPDLFFAN EKGAHFHEIT TDNKLLRISR 150
    NGNVLYSIRI TLTLACPMDL KNFPMDVQTC IMQLESFGYT MNDLIFEWQE 200
    QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA RFHLERQMGY 250
    YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA 300
    SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR 350
    HHKSPMLNLF QDDEGGEGRF NFSAYGMGPA CLQAKDGISV KGANNNNTTN 400
    PPPAPSKSPE EMRKLFIQRA KKIDKISRIG FPMAFLIFNM FYWIIYKIVR 450
    REDVHNK 457
    Length:457
    Mass (Da):52,657
    Last modified:December 8, 2000 - v2
    Checksum:i29268DC4991A6E20
    GO
    Isoform b (identifier: Q64018-2) [UniParc]FASTAAdd to Basket

    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         354-361: Missing.

    Show »
    Length:449
    Mass (Da):51,726
    Checksum:i4EDDAEB87874A153
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti84 – 841M → I in CAB52398. (PubMed:7507926)Curated
    Sequence conflicti84 – 841M → I in CAB52399. (PubMed:7507926)Curated
    Sequence conflicti426 – 4294ISRI → NISH in CAB52398. (PubMed:7507926)Curated
    Sequence conflicti426 – 4294ISRI → NISH in CAB52399. (PubMed:7507926)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti80 – 801A → S in spd. 1 Publication

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei354 – 3618Missing in isoform b. 1 PublicationVSP_000080

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S73717 mRNA. Translation: AAB32157.2.
    S73718 mRNA. Translation: AAB32158.2.
    X75832
    , X75833, X75834, X75835, X75836, X75837, X75838, X75839, X75840 Genomic DNA. Translation: CAB52398.1.
    X75832
    , X75833, X75834, X75835, X75836, X75837, X75838, X75839, X75840 Genomic DNA. Translation: CAB52399.1.
    AL596207 Genomic DNA. Translation: CAI35359.1.
    CCDSiCCDS24715.1. [Q64018-2]
    CCDS70190.1. [Q64018-1]
    PIRiC49970.
    RefSeqiNP_001277750.1. NM_001290821.1. [Q64018-1]
    UniGeneiMm.89320.

    Genome annotation databases

    EnsembliENSMUST00000075603; ENSMUSP00000075032; ENSMUSG00000000263. [Q64018-1]
    ENSMUST00000102716; ENSMUSP00000099777; ENSMUSG00000000263. [Q64018-2]
    GeneIDi14654.
    UCSCiuc007izo.1. mouse. [Q64018-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S73717 mRNA. Translation: AAB32157.2 .
    S73718 mRNA. Translation: AAB32158.2 .
    X75832
    , X75833 , X75834 , X75835 , X75836 , X75837 , X75838 , X75839 , X75840 Genomic DNA. Translation: CAB52398.1 .
    X75832
    , X75833 , X75834 , X75835 , X75836 , X75837 , X75838 , X75839 , X75840 Genomic DNA. Translation: CAB52399.1 .
    AL596207 Genomic DNA. Translation: CAI35359.1 .
    CCDSi CCDS24715.1. [Q64018-2 ]
    CCDS70190.1. [Q64018-1 ]
    PIRi C49970.
    RefSeqi NP_001277750.1. NM_001290821.1. [Q64018-1 ]
    UniGenei Mm.89320.

    3D structure databases

    ProteinModelPortali Q64018.
    SMRi Q64018. Positions 49-340, 416-453.
    ModBasei Search...
    MobiDBi Search...

    Chemistry

    GuidetoPHARMACOLOGYi 423.

    PTM databases

    PhosphoSitei Q64018.

    Proteomic databases

    PRIDEi Q64018.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000075603 ; ENSMUSP00000075032 ; ENSMUSG00000000263 . [Q64018-1 ]
    ENSMUST00000102716 ; ENSMUSP00000099777 ; ENSMUSG00000000263 . [Q64018-2 ]
    GeneIDi 14654.
    UCSCi uc007izo.1. mouse. [Q64018-1 ]

    Organism-specific databases

    MGIi MGI:95747. Glra1.

    Phylogenomic databases

    eggNOGi NOG265706.
    GeneTreei ENSGT00550000074453.
    HOGENOMi HOG000231336.
    HOVERGENi HBG051707.
    InParanoidi Q5NCT8.
    OMAi NTANPVP.
    PhylomeDBi Q64018.
    TreeFami TF315453.

    Enzyme and pathway databases

    Reactomei REACT_198558. Ligand-gated ion channel transport.

    Miscellaneous databases

    PROi Q64018.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q64018.
    CleanExi MM_GLRA1.
    Genevestigatori Q64018.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR008127. Glycine_rcpt_A.
    IPR008128. Glycine_rcpt_A1.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    [Graphical view ]
    PANTHERi PTHR18945. PTHR18945. 1 hit.
    Pfami PF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 2 hits.
    [Graphical view ]
    PRINTSi PR00253. GABAARECEPTR.
    PR01673. GLYRALPHA.
    PR01674. GLYRALPHA1.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse."
      Ryan S.G., Buckwalter M.S., Lynch J.W., Handford C.A., Segura L., Shiang R., Wasmuth J.J., Camper S.A., Schofield P., O'Connell P.
      Nat. Genet. 7:131-135(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANT SPD SER-80.
    2. "Structural analysis of mouse glycine receptor alpha subunit genes. Identification and chromosomal localization of a novel variant."
      Matzenbach B., Maulet Y., Sefton L., Courtier B., Avner P., Guenet J.-L., Betz H.
      J. Biol. Chem. 269:2607-2612(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
      Strain: BALB/c.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.

    Entry informationi

    Entry nameiGLRA1_MOUSE
    AccessioniPrimary (citable) accession number: Q64018
    Secondary accession number(s): Q5NCT8
    , Q64019, Q9R0Y6, Q9R0Y7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 8, 2000
    Last modified: October 1, 2014
    This is version 135 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Miscellaneous

    The alpha subunit binds strychnine.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3