Q64018 (GLRA1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycine receptor subunit alpha-1

Alternative name(s):
Glycine receptor 48 kDa subunit
Glycine receptor strychnine-binding subunit

Gene names

Name:

Glra1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	457 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 alpha and beta subunits.
Subcellular location	Cell junction › synapse › postsynaptic 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 process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	acrosome reaction Inferred from mutant phenotype PubMed 11076688. Source: MGI adult walking behavior Inferred from mutant phenotype PubMed 17114051. Source: MGI 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 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: Compara protein heterooligomerization Inferred from electronic annotation. Source: Compara protein homooligomerization Inferred from electronic annotation. Source: Compara regulation of action potential Inferred from mutant phenotype PubMed 11742725PubMed 16800867. Source: MGI regulation of inhibitory postsynaptic membrane potential Inferred from mutant phenotype PubMed 17114051. 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, glycinergic Inferred from mutant phenotype PubMed 16672662. Source: MGI visual perception Inferred from mutant phenotype PubMed 17114051. Source: MGI
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulum Inferred from electronic annotation. Source: Compara external side of plasma membrane Inferred from direct assay PubMed 17145751. Source: MGI integral to plasma membrane Inferred from sequence or structural similarity. Source: UniProtKB intracellular membrane-bounded organelle Inferred from sequence or structural similarity. Source: UniProtKB postsynaptic membrane Inferred from direct assay PubMed 16964444PubMed 17114051. Source: MGI
Molecular_function	extracellular-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 28	28	By similarity
	Chain	29 – 457	429	Glycine receptor subunit alpha-1		PRO_0000000413
Regions
	Topological domain	29 – 247	219	Extracellular Probable
	Transmembrane	248 – 274	27	Helical; Probable
	Transmembrane	281 – 298	18	Helical; Probable
	Transmembrane	313 – 336	24	Helical; Probable
	Topological domain	337 – 428	92	Cytoplasmic Probable
	Transmembrane	429 – 446	18	Helical; Probable
	Region	225 – 230	6	Strychnine-binding By similarity
Amino acid modifications
	Glycosylation	66	1	N-linked (GlcNAc...) Probable
	Disulfide bond	166 ↔ 180		By similarity
	Disulfide bond	226 ↔ 237		By similarity
Natural variations
	Alternative sequence	354 – 361	8	Missing in isoform b.		VSP_000080
	Natural variant	80	1	A → S in spd. Ref.1
Experimental info
	Sequence conflict	84	1	M → I in CAB52398. Ref.2
	Sequence conflict	84	1	M → I in CAB52399. Ref.2
	Sequence conflict	426 – 429	4	ISRI → NISH in CAB52398. Ref.2
	Sequence conflict	426 – 429	4	ISRI → NISH in CAB52399. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform a (Long) [UniParc]. Last modified December 8, 2000. Version 2. Checksum: 29268DC4991A6E20	FASTA	457	52,657
	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
	Isoform b (Short) [UniParc]. Checksum: 4EDDAEB87874A153	FASTA	449	51,726
	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 HHKDDEGGEG 370 380 390 400 410 420 RFNFSAYGMG PACLQAKDGI SVKGANNNNT TNPPPAPSKS PEEMRKLFIQ RAKKIDKISR 430 440 IGFPMAFLIF NMFYWIIYKI VRREDVHNK

References

	« Hide 'large scale' referencesShow '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. , 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 , 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.
IPI	IPI00405549. IPI00466207.
PIR	C49970.
UniGene	Mm.89320.
3D structure databases
ProteinModelPortal	Q64018.
SMR	Q64018. Positions 49-337.
ModBase	Search...
PTM databases
PhosphoSite	Q64018.
Proteomic databases
PRIDE	Q64018.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000075603; ENSMUSP00000075032; ENSMUSG00000000263. ENSMUST00000102716; ENSMUSP00000099777; ENSMUSG00000000263.
Organism-specific databases
MGI	MGI:95747. Glra1.
Phylogenomic databases
eggNOG	NOG265706.
GeneTree	ENSGT00550000074453.
HOGENOM	HOG000231336.
HOVERGEN	HBG051707.
InParanoid	Q5NCT8.
OMA	NTANPVP.
Gene expression databases
ArrayExpress	Q64018.
Bgee	Q64018.
CleanEx	MM_GLRA1.
Genevestigator	Q64018.
GermOnline	ENSMUSG00000000263. Mus musculus.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006028. GABAA_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]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 2 hits. [Graphical view]
PRINTS	PR00253. GABAARECEPTR. PR01673. GLYRALPHA. PR01674. GLYRALPHA1. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

GLRA1_MOUSE

Accession

Primary (citable) accession number: Q64018
Secondary accession number(s): Q5NCT8 , Q64019, Q9R0Y6, Q9R0Y7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	December 8, 2000
Last modified:	May 1, 2013
This is version 121 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program