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Database: UniProt
Entry: Q64018
LinkDB: Q64018
Original site: Q64018 
ID   GLRA1_MOUSE             Reviewed;         457 AA.
AC   Q64018; Q5NCT8; Q64019; Q9R0Y6; Q9R0Y7;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   08-DEC-2000, sequence version 2.
DT   09-JUL-2014, entry version 133.
DE   RecName: Full=Glycine receptor subunit alpha-1;
DE   AltName: Full=Glycine receptor 48 kDa subunit;
DE   AltName: Full=Glycine receptor strychnine-binding subunit;
DE   Flags: Precursor;
GN   Name=Glra1;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), AND VARIANT SPD SER-80.
RX   PubMed=7920629; DOI=10.1038/ng0694-131;
RA   Ryan S.G., Buckwalter M.S., Lynch J.W., Handford C.A., Segura L.,
RA   Shiang R., Wasmuth J.J., Camper S.A., Schofield P., O'Connell P.;
RT   "A missense mutation in the gene encoding the alpha 1 subunit of the
RT   inhibitory glycine receptor in the spasmodic mouse.";
RL   Nat. Genet. 7:131-135(1994).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING.
RC   STRAIN=BALB/c;
RX   PubMed=7507926;
RA   Matzenbach B., Maulet Y., Sefton L., Courtier B., Avner P.,
RA   Guenet J.-L., Betz H.;
RT   "Structural analysis of mouse glycine receptor alpha subunit genes.
RT   Identification and chromosomal localization of a novel variant.";
RL   J. Biol. Chem. 269:2607-2612(1994).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=C57BL/6J;
RX   PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA   Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
RA   She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
RA   Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
RA   Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
RA   Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
RA   Lindblad-Toh K., Eichler E.E., Ponting C.P.;
RT   "Lineage-specific biology revealed by a finished genome assembly of
RT   the mouse.";
RL   PLoS Biol. 7:E1000112-E1000112(2009).
CC   -!- FUNCTION: The glycine receptor is a neurotransmitter-gated ion
CC       channel. Binding of glycine to its receptor increases the chloride
CC       conductance and thus produces hyperpolarization (inhibition of
CC       neuronal firing).
CC   -!- SUBUNIT: Pentamer composed of three alpha and two beta subunits.
CC       Homopentamers of alpha subunits also form functional receptors.
CC   -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
CC       membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
CC       membrane protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=a; Synonyms=Long;
CC         IsoId=Q64018-1; Sequence=Displayed;
CC       Name=b; Synonyms=Short;
CC         IsoId=Q64018-2; Sequence=VSP_000080;
CC   -!- DISEASE: Note=Defects in Glra1 are the cause of the spasmodic
CC       (spd) phenotype, a mouse mutant which resembles to the human
CC       neurological disease, hyperekplexia (or startle disease (STHE)).
CC   -!- MISCELLANEOUS: The alpha subunit binds strychnine.
CC   -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9)
CC       family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-
CC       subfamily.
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DR   EMBL; S73717; AAB32157.2; -; mRNA.
DR   EMBL; S73718; AAB32158.2; -; mRNA.
DR   EMBL; X75832; CAB52398.1; -; Genomic_DNA.
DR   EMBL; X75833; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75834; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75835; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75836; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75837; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75838; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75839; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75840; CAB52398.1; JOINED; Genomic_DNA.
DR   EMBL; X75832; CAB52399.1; -; Genomic_DNA.
DR   EMBL; X75833; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75834; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75835; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75836; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75837; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75838; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75839; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; X75840; CAB52399.1; JOINED; Genomic_DNA.
DR   EMBL; AL596207; CAI35359.1; -; Genomic_DNA.
DR   CCDS; CCDS24715.1; -. [Q64018-2]
DR   PIR; C49970; C49970.
DR   RefSeq; NP_001277750.1; NM_001290821.1. [Q64018-1]
DR   UniGene; Mm.89320; -.
DR   ProteinModelPortal; Q64018; -.
DR   SMR; Q64018; 49-340, 416-453.
DR   GuidetoPHARMACOLOGY; 423; -.
DR   PhosphoSite; Q64018; -.
DR   PRIDE; Q64018; -.
DR   Ensembl; ENSMUST00000075603; ENSMUSP00000075032; ENSMUSG00000000263. [Q64018-1]
DR   Ensembl; ENSMUST00000102716; ENSMUSP00000099777; ENSMUSG00000000263. [Q64018-2]
DR   GeneID; 14654; -.
DR   KEGG; mmu:14654; -.
DR   UCSC; uc007izo.1; mouse. [Q64018-1]
DR   CTD; 2741; -.
DR   MGI; MGI:95747; Glra1.
DR   eggNOG; NOG265706; -.
DR   GeneTree; ENSGT00550000074453; -.
DR   HOGENOM; HOG000231336; -.
DR   HOVERGEN; HBG051707; -.
DR   InParanoid; Q5NCT8; -.
DR   KO; K05193; -.
DR   OMA; NTANPVP; -.
DR   PhylomeDB; Q64018; -.
DR   TreeFam; TF315453; -.
DR   PRO; PR:Q64018; -.
DR   Bgee; Q64018; -.
DR   CleanEx; MM_GLRA1; -.
DR   Genevestigator; Q64018; -.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR   GO; GO:0009897; C:external side of plasma membrane; IDA:MGI.
DR   GO; GO:0060077; C:inhibitory synapse; IDA:MGI.
DR   GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
DR   GO; GO:0005622; C:intracellular; IDA:MGI.
DR   GO; GO:0043231; C:intracellular membrane-bounded organelle; ISS:UniProtKB.
DR   GO; GO:0016020; C:membrane; IDA:MGI.
DR   GO; GO:0045211; C:postsynaptic membrane; IDA:MGI.
DR   GO; GO:0016934; F:extracellular-glycine-gated chloride channel activity; ISS:UniProtKB.
DR   GO; GO:0016594; F:glycine binding; ISS:UniProtKB.
DR   GO; GO:0030977; F:taurine binding; ISS:UniProtKB.
DR   GO; GO:0022824; F:transmitter-gated ion channel activity; IEA:InterPro.
DR   GO; GO:0007340; P:acrosome reaction; IMP:MGI.
DR   GO; GO:0001508; P:action potential; IMP:MGI.
DR   GO; GO:0007628; P:adult walking behavior; IMP:MGI.
DR   GO; GO:1902476; P:chloride transmembrane transport; IDA:GOC.
DR   GO; GO:0006821; P:chloride transport; ISS:UniProtKB.
DR   GO; GO:0006811; P:ion transport; ISS:UniProtKB.
DR   GO; GO:0006936; P:muscle contraction; ISS:UniProtKB.
DR   GO; GO:0051970; P:negative regulation of transmission of nerve impulse; ISS:UniProtKB.
DR   GO; GO:0050905; P:neuromuscular process; IMP:MGI.
DR   GO; GO:0050884; P:neuromuscular process controlling posture; IMP:MGI.
DR   GO; GO:0007218; P:neuropeptide signaling pathway; ISS:UniProtKB.
DR   GO; GO:2000344; P:positive regulation of acrosome reaction; IEA:Ensembl.
DR   GO; GO:0060080; P:regulation of inhibitory postsynaptic membrane potential; IMP:MGI.
DR   GO; GO:0042391; P:regulation of membrane potential; IDA:MGI.
DR   GO; GO:0043576; P:regulation of respiratory gaseous exchange; IMP:MGI.
DR   GO; GO:0002087; P:regulation of respiratory gaseous exchange by neurological system process; IMP:MGI.
DR   GO; GO:0060013; P:righting reflex; IMP:MGI.
DR   GO; GO:0001964; P:startle response; ISS:UniProtKB.
DR   GO; GO:0007268; P:synaptic transmission; IMP:MGI.
DR   GO; GO:0060012; P:synaptic transmission, glycinergic; IMP:MGI.
DR   GO; GO:0007601; P:visual perception; IMP:MGI.
DR   Gene3D; 2.70.170.10; -; 1.
DR   InterPro; IPR006028; GABAA/Glycine_rcpt.
DR   InterPro; IPR008127; Glycine_rcpt_A.
DR   InterPro; IPR008128; Glycine_rcpt_A1.
DR   InterPro; IPR006202; Neur_chan_lig-bd.
DR   InterPro; IPR006201; Neur_channel.
DR   InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR   InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR   PANTHER; PTHR18945; PTHR18945; 1.
DR   Pfam; PF02931; Neur_chan_LBD; 1.
DR   Pfam; PF02932; Neur_chan_memb; 2.
DR   PRINTS; PR00253; GABAARECEPTR.
DR   PRINTS; PR01673; GLYRALPHA.
DR   PRINTS; PR01674; GLYRALPHA1.
DR   PRINTS; PR00252; NRIONCHANNEL.
DR   SUPFAM; SSF63712; SSF63712; 1.
DR   SUPFAM; SSF90112; SSF90112; 1.
DR   TIGRFAMs; TIGR00860; LIC; 1.
DR   PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell junction; Cell membrane; Chloride;
KW   Chloride channel; Complete proteome; Disease mutation; Disulfide bond;
KW   Glycoprotein; Ion channel; Ion transport; Ligand-gated ion channel;
KW   Membrane; Postsynaptic cell membrane; Receptor; Reference proteome;
KW   Signal; Synapse; Transmembrane; Transmembrane helix; Transport.
FT   SIGNAL        1     28       By similarity.
FT   CHAIN        29    457       Glycine receptor subunit alpha-1.
FT                                /FTId=PRO_0000000413.
FT   TOPO_DOM     29    247       Extracellular (Probable).
FT   TRANSMEM    248    274       Helical; (Probable).
FT   TRANSMEM    281    298       Helical; (Probable).
FT   TRANSMEM    313    336       Helical; (Probable).
FT   TOPO_DOM    337    428       Cytoplasmic (Probable).
FT   TRANSMEM    429    446       Helical; (Probable).
FT   REGION      225    230       Strychnine-binding (By similarity).
FT   CARBOHYD     66     66       N-linked (GlcNAc...) (Probable).
FT   DISULFID    166    180       By similarity.
FT   DISULFID    226    237       By similarity.
FT   VAR_SEQ     354    361       Missing (in isoform b).
FT                                /FTId=VSP_000080.
FT   VARIANT      80     80       A -> S (in spd).
FT   CONFLICT     84     84       M -> I (in Ref. 2; CAB52398/CAB52399).
FT   CONFLICT    426    429       ISRI -> NISH (in Ref. 2; CAB52398/
FT                                CAB52399).
SQ   SEQUENCE   457 AA;  52657 MW;  29268DC4991A6E20 CRC64;
     MYSFNTLRFY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS GYDARIRPNF
     KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR LAYNEYPDDS LDLDPSMLDS
     IWKPDLFFAN EKGAHFHEIT TDNKLLRISR NGNVLYSIRI TLTLACPMDL KNFPMDVQTC
     IMQLESFGYT MNDLIFEWQE QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA
     RFHLERQMGY YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA
     SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR HHKSPMLNLF
     QDDEGGEGRF NFSAYGMGPA CLQAKDGISV KGANNNNTTN PPPAPSKSPE EMRKLFIQRA
     KKIDKISRIG FPMAFLIFNM FYWIIYKIVR REDVHNK
//
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