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 01-MAY-2013, entry version 121.
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 alpha and beta subunits.
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 IPI; IPI00405549; -.
DR IPI; IPI00466207; -.
DR PIR; C49970; C49970.
DR UniGene; Mm.89320; -.
DR ProteinModelPortal; Q64018; -.
DR SMR; Q64018; 49-337.
DR PhosphoSite; Q64018; -.
DR PRIDE; Q64018; -.
DR Ensembl; ENSMUST00000075603; ENSMUSP00000075032; ENSMUSG00000000263.
DR Ensembl; ENSMUST00000102716; ENSMUSP00000099777; ENSMUSG00000000263.
DR MGI; MGI:95747; Glra1.
DR eggNOG; NOG265706; -.
DR GeneTree; ENSGT00550000074453; -.
DR HOGENOM; HOG000231336; -.
DR HOVERGEN; HBG051707; -.
DR InParanoid; Q5NCT8; -.
DR OMA; NTANPVP; -.
DR ArrayExpress; Q64018; -.
DR Bgee; Q64018; -.
DR CleanEx; MM_GLRA1; -.
DR Genevestigator; Q64018; -.
DR GermOnline; ENSMUSG00000000263; Mus musculus.
DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Compara.
DR GO; GO:0009897; C:external side of plasma membrane; IDA:MGI.
DR GO; GO:0005887; C:integral to plasma membrane; ISS:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; ISS:UniProtKB.
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:0007628; P:adult walking behavior; IMP:MGI.
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: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:Compara.
DR GO; GO:0051291; P:protein heterooligomerization; IEA:Compara.
DR GO; GO:0051260; P:protein homooligomerization; IEA:Compara.
DR GO; GO:0001508; P:regulation of action potential; IMP:MGI.
DR GO; GO:0060080; P:regulation of inhibitory postsynaptic membrane potential; 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: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_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; SSF90112; Neu_channel_TM; 1.
DR SUPFAM; SSF63712; Neur_chan_LBD; 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
//
