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Q64018

- GLRA1_MOUSE

UniProt

Q64018 - GLRA1_MOUSE

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini29 – 247219Extracellular Inferred
Add
BLAST
Transmembranei248 – 27427Helical; Inferred
Add
BLAST
Transmembranei281 – 29818Helical; Inferred
Add
BLAST
Transmembranei313 – 33624Helical; Inferred
Add
BLAST
Topological domaini337 – 42892Cytoplasmic Inferred
Add
BLAST
Transmembranei429 – 44618Helical; Inferred
Add
BLAST

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
Complete GO annotation...

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 – 2828 By similarity
Add
BLAST
Chaini29 – 457429Glycine receptor subunit alpha-1
PRO_0000000413Add
BLAST

Amino acid modifications

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

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni225 – 2306Strychnine-binding By 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

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.
VSP_000080

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti84 – 841M → I in CAB52398. 1 Publication
Sequence conflicti84 – 841M → I in CAB52399. 1 Publication
Sequence conflicti426 – 4294ISRI → NISH in CAB52398. 1 Publication
Sequence conflicti426 – 4294ISRI → NISH in CAB52399. 1 Publication

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 134 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

Similar proteinsi