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Q64018 (GLRA1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycine receptor subunit alpha-1
Alternative name(s):
Glycine receptor 48 kDa subunit
Glycine receptor strychnine-binding subunit
Gene names
Name:Glra1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length457 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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).

Subunit structure

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

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

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)).

Miscellaneous

The alpha subunit binds strychnine.

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processacrosome reaction

Inferred from mutant phenotype PubMed 11076688. Source: MGI

action potential

Inferred from mutant phenotype PubMed 11742725PubMed 16800867. Source: MGI

adult walking behavior

Inferred from mutant phenotype PubMed 17114051. Source: MGI

chloride transmembrane transport

Inferred from direct assay PubMed 8062927. Source: GOC

chloride transport

Inferred from sequence or structural similarity. Source: UniProtKB

ion transport

Inferred from sequence or structural similarity. Source: UniProtKB

muscle contraction

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of transmission of nerve impulse

Inferred from sequence or structural similarity. Source: UniProtKB

neuromuscular process

Inferred from mutant phenotype PubMed 17114051PubMed 9087981. Source: MGI

neuromuscular process controlling posture

Inferred from mutant phenotype PubMed 17114051. Source: MGI

neuropeptide signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of acrosome reaction

Inferred from electronic annotation. Source: Ensembl

regulation of inhibitory postsynaptic membrane potential

Inferred from mutant phenotype PubMed 17114051. Source: MGI

regulation of membrane potential

Inferred from direct assay PubMed 8062927. Source: MGI

regulation of respiratory gaseous exchange

Inferred from mutant phenotype PubMed 11742725PubMed 12380014. Source: MGI

regulation of respiratory gaseous exchange by neurological system process

Inferred from mutant phenotype PubMed 16800867. Source: MGI

righting reflex

Inferred from mutant phenotype PubMed 17114051. Source: MGI

startle response

Inferred from sequence or structural similarity. Source: UniProtKB

synaptic transmission

Inferred from mutant phenotype PubMed 12837931. Source: MGI

synaptic transmission, glycinergic

Inferred from mutant phenotype PubMed 16672662. Source: MGI

visual perception

Inferred from mutant phenotype PubMed 17114051. Source: MGI

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

chloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

external side of plasma membrane

Inferred from direct assay PubMed 17145751. Source: MGI

inhibitory synapse

Inferred from direct assay PubMed 9812897. Source: MGI

integral component of plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

intracellular

Inferred from direct assay PubMed 17145751. Source: MGI

intracellular membrane-bounded organelle

Inferred from sequence or structural similarity. Source: UniProtKB

membrane

Inferred from direct assay PubMed 1371219PubMed 17114051PubMed 9145798. Source: MGI

postsynaptic membrane

Inferred from direct assay PubMed 16964444PubMed 17114051. Source: MGI

   Molecular_functionextracellular-glycine-gated chloride channel activity

Inferred from sequence or structural similarity. Source: UniProtKB

glycine binding

Inferred from sequence or structural similarity. Source: UniProtKB

taurine binding

Inferred from sequence or structural similarity. Source: UniProtKB

transmitter-gated ion channel activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform a (identifier: Q64018-1)

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.
Isoform b (identifier: Q64018-2)

Also known as: Short;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 By similarity
Chain29 – 457429Glycine receptor subunit alpha-1
PRO_0000000413

Regions

Topological domain29 – 247219Extracellular Probable
Transmembrane248 – 27427Helical; Probable
Transmembrane281 – 29818Helical; Probable
Transmembrane313 – 33624Helical; Probable
Topological domain337 – 42892Cytoplasmic Probable
Transmembrane429 – 44618Helical; Probable
Region225 – 2306Strychnine-binding By similarity

Amino acid modifications

Glycosylation661N-linked (GlcNAc...) Probable
Disulfide bond166 ↔ 180 By similarity
Disulfide bond226 ↔ 237 By similarity

Natural variations

Alternative sequence354 – 3618Missing in isoform b.
VSP_000080
Natural variant801A → S in spd. Ref.1

Experimental info

Sequence conflict841M → I in CAB52398. Ref.2
Sequence conflict841M → I in CAB52399. Ref.2
Sequence conflict426 – 4294ISRI → NISH in CAB52398. Ref.2
Sequence conflict426 – 4294ISRI → NISH in CAB52399. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform a (Long) [UniParc].

Last modified December 8, 2000. Version 2.
Checksum: 29268DC4991A6E20

FASTA45752,657
        10         20         30         40         50         60 
MYSFNTLRFY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS GYDARIRPNF 

        70         80         90        100        110        120 
KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR LAYNEYPDDS LDLDPSMLDS 

       130        140        150        160        170        180 
IWKPDLFFAN EKGAHFHEIT TDNKLLRISR NGNVLYSIRI TLTLACPMDL KNFPMDVQTC 

       190        200        210        220        230        240 
IMQLESFGYT MNDLIFEWQE QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA 

       250        260        270        280        290        300 
RFHLERQMGY YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA 

       310        320        330        340        350        360 
SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR HHKSPMLNLF 

       370        380        390        400        410        420 
QDDEGGEGRF NFSAYGMGPA CLQAKDGISV KGANNNNTTN PPPAPSKSPE EMRKLFIQRA 

       430        440        450 
KKIDKISRIG FPMAFLIFNM FYWIIYKIVR REDVHNK 

« Hide

Isoform b (Short) [UniParc].

Checksum: 4EDDAEB87874A153
Show »

FASTA44951,726

References

« Hide 'large scale' references
[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]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S73717 mRNA. Translation: AAB32157.2.
S73718 mRNA. Translation: AAB32158.2.
X75832 expand/collapse EMBL AC list , X75833, X75834, X75835, X75836, X75837, X75838, X75839, X75840 Genomic DNA. Translation: CAB52398.1.
X75832 expand/collapse EMBL AC list , X75833, X75834, X75835, X75836, X75837, X75838, X75839, X75840 Genomic DNA. Translation: CAB52399.1.
AL596207 Genomic DNA. Translation: CAI35359.1.
CCDSCCDS24715.1. [Q64018-2]
PIRC49970.
RefSeqNP_001277750.1. NM_001290821.1. [Q64018-1]
UniGeneMm.89320.

3D structure databases

ProteinModelPortalQ64018.
SMRQ64018. Positions 49-340, 416-453.
ModBaseSearch...
MobiDBSearch...

Chemistry

GuidetoPHARMACOLOGY423.

PTM databases

PhosphoSiteQ64018.

Proteomic databases

PRIDEQ64018.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000075603; ENSMUSP00000075032; ENSMUSG00000000263. [Q64018-1]
ENSMUST00000102716; ENSMUSP00000099777; ENSMUSG00000000263. [Q64018-2]
GeneID14654.
KEGGmmu:14654.
UCSCuc007izo.1. mouse. [Q64018-1]

Organism-specific databases

CTD2741.
MGIMGI:95747. Glra1.

Phylogenomic databases

eggNOGNOG265706.
GeneTreeENSGT00550000074453.
HOGENOMHOG000231336.
HOVERGENHBG051707.
InParanoidQ5NCT8.
KOK05193.
OMANTANPVP.
PhylomeDBQ64018.
TreeFamTF315453.

Gene expression databases

BgeeQ64018.
CleanExMM_GLRA1.
GenevestigatorQ64018.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. 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]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSPR00253. GABAARECEPTR.
PR01673. GLYRALPHA.
PR01674. GLYRALPHA1.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

PROQ64018.
SOURCESearch...

Entry information

Entry nameGLRA1_MOUSE
AccessionPrimary (citable) accession number: Q64018
Secondary accession number(s): Q5NCT8 expand/collapse secondary AC list , Q64019, Q9R0Y6, Q9R0Y7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 8, 2000
Last modified: July 9, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot