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Protein

Glycine receptor subunit alpha-1

Gene

GLRA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels ot ethanol contribute to the sedative effects of ethanol (By similarity).By similarity1 Publication12 Publications

Enzyme regulationi

Channel activity is potentiated by nanomolar concentrations of Zn2+; half-maximal activation is observed with 37 nM Zn2+ (PubMed:16144831). Inhibited by higher Zn2+ levels; haf-maximal inhibition occurs at 20 µM Zn2+ (PubMed:16144831). Inhibited by strychnine (PubMed:2155780, PubMed:16144831, PubMed:25445488). Inhibited by lindane (PubMed:25445488). Inhibited by picrotoxin (PubMed:22715885, PubMed:23994010, PubMed:25730860). Strychnine binding locks the channel in a closed conformation and prevents channel opening in response to extracellular glycine (By similarity).By similarity6 Publications

Kineticsi

A concentration of about 0.02 mM glycine results in half-maximal channel conductance for homopentamers. A concentration of 0.018 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:9009272). A concentration of 0.027 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:7920629).2 Publications

      Sites

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Metal bindingi220Zinc1 Publication1
      Metal bindingi222Zinc1 Publication1
      Metal bindingi243Zinc1 Publication1
      Sitei289Important for obstruction of the ion pore in the closed conformation1 Publication1

      GO - Molecular functioni

      • extracellular-glycine-gated chloride channel activity Source: UniProtKB
      • glycine binding Source: UniProtKB
      • taurine binding Source: UniProtKB
      • transmitter-gated ion channel activity Source: InterPro
      • zinc ion binding Source: UniProtKB

      GO - Biological processi

      • acrosome reaction Source: Ensembl
      • action potential Source: Ensembl
      • adult walking behavior Source: Ensembl
      • cellular response to amino acid stimulus Source: UniProtKB
      • cellular response to ethanol Source: UniProtKB
      • cellular response to zinc ion Source: UniProtKB
      • chloride transmembrane transport Source: UniProtKB
      • chloride transport Source: UniProtKB
      • inhibitory postsynaptic potential Source: UniProtKB
      • ion transmembrane transport Source: Reactome
      • ion transport Source: UniProtKB
      • muscle contraction Source: UniProtKB
      • negative regulation of transmission of nerve impulse Source: UniProtKB
      • neuromuscular process controlling posture Source: Ensembl
      • neuropeptide signaling pathway Source: UniProtKB
      • positive regulation of acrosome reaction Source: UniProtKB
      • protein heterooligomerization Source: Ensembl
      • protein homooligomerization Source: Ensembl
      • regulation of membrane potential Source: MGI
      • regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
      • response to alcohol Source: UniProtKB
      • righting reflex Source: Ensembl
      • startle response Source: UniProtKB
      • synaptic transmission, glycinergic Source: UniProtKB
      • visual perception Source: Ensembl

      Keywordsi

      Molecular functionChloride channel, Ion channel, Ligand-gated ion channel, Receptor
      Biological processIon transport, Transport
      LigandChloride, Metal-binding, Zinc

      Enzyme and pathway databases

      ReactomeiR-HSA-975298. Ligand-gated ion channel transport.

      Protein family/group databases

      TCDBi1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

      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
      OrganismiHomo sapiens (Human)
      Taxonomic identifieri9606 [NCBI]
      Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
      Proteomesi
      • UP000005640 Componenti: Chromosome 5

      Organism-specific databases

      HGNCiHGNC:4326. GLRA1.

      Subcellular locationi

      Topology

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Topological domaini29 – 250ExtracellularCuratedAdd BLAST222
      Transmembranei251 – 272Helical; Name=12 PublicationsAdd BLAST22
      Topological domaini273 – 277Cytoplasmic2 Publications5
      Transmembranei278 – 298Helical; Name=22 PublicationsAdd BLAST21
      Topological domaini299 – 309Extracellular2 PublicationsAdd BLAST11
      Transmembranei310 – 330Helical; Name=32 PublicationsAdd BLAST21
      Topological domaini331 – 425Cytoplasmic1 PublicationAdd BLAST95
      Transmembranei426 – 446Helical; Name=41 PublicationAdd BLAST21
      Topological domaini447 – 457ExtracellularCuratedAdd BLAST11

      GO - Cellular componenti

      Keywords - Cellular componenti

      Cell junction, Cell membrane, Cell projection, Membrane, Postsynaptic cell membrane, Synapse

      Pathology & Biotechi

      Involvement in diseasei

      Hyperekplexia 1 (HKPX1)14 Publications
      The disease is caused by mutations affecting the gene represented in this entry.
      Disease descriptionA neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.
      See also OMIM:149400
      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Natural variantiVAR_07541893R → W in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with S-258. 1 PublicationCorresponds to variant dbSNP:rs199547699Ensembl.1
      Natural variantiVAR_075419100R → C in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication1
      Natural variantiVAR_075420246R → W in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 PublicationCorresponds to variant dbSNP:rs751659671Ensembl.1
      Natural variantiVAR_075421254Q → E in HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075422258P → S in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with W-93. 1 Publication1
      Natural variantiVAR_000296272I → N in HKPX1; requires much higher glycine levels for channel activation. 2 PublicationsCorresponds to variant dbSNP:rs121918409Ensembl.1
      Natural variantiVAR_010112278P → T in HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization. 2 PublicationsCorresponds to variant dbSNP:rs121918413Ensembl.1
      Natural variantiVAR_010113280R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864918Ensembl.1
      Natural variantiVAR_000297294Q → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs121918411Ensembl.1
      Natural variantiVAR_000298299R → L in HKPX1; requires much higher glycine levels for channel activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408Ensembl.1
      Natural variantiVAR_000299299R → Q in HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408Ensembl.1
      Natural variantiVAR_000300304K → E in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918412Ensembl.1
      Natural variantiVAR_000301307Y → C in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918410Ensembl.1
      Natural variantiVAR_075423308V → M in HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075424319L → P in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with A-424. 1 Publication1
      Natural variantiVAR_075425424D → A in HKPX1; abolishes expression at the cell membrane; compound heterozygote with P-319. 1 Publication1
      Natural variantiVAR_010114428R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864919Ensembl.1
      Natural variantiVAR_075426450R → H in HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening. 1 PublicationCorresponds to variant dbSNP:rs200130685Ensembl.1

      Mutagenesis

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Mutagenesisi80A → S: The mutant channel requires much higher glycine concentrations for activation. 1 Publication1
      Mutagenesisi137H → F: Abolishes sensitivity of channel activity to potentiation or inhibition by Zn(2+); when associated with K-222. 1 Publication1
      Mutagenesisi137H → N: Strongly decreases sensitivity to inhibition by Zn(2+). 1 Publication1
      Mutagenesisi220E → A: Abolishes potentiation of channel activity by Zn(2+). 1 Publication1
      Mutagenesisi222D → A: Abolishes potentiation of channel activity by Zn(2+). 1 Publication1
      Mutagenesisi222D → K: Abolishes sensitivity of channel activity to potentiation or inhibition by Zn(2+); when associated with F-137. 1 Publication1
      Mutagenesisi243H → A: Strongly decreases potentiation of channel activity by Zn(2+). 1 Publication1
      Mutagenesisi282G → A: Increased single-channel conductance. No effect on glycine sensitivity, but decreased rate of activation. 1 Publication1
      Mutagenesisi304K → C: Decreases channel conductance; the mutant channel requires much higher glycine concentrations for activation. 1 Publication1

      Keywords - Diseasei

      Disease mutation

      Organism-specific databases

      DisGeNETi2741.
      MalaCardsiGLRA1.
      MIMi149400. phenotype.
      OpenTargetsiENSG00000145888.
      Orphaneti3197. Hereditary hyperekplexia.
      PharmGKBiPA28727.

      Chemistry databases

      ChEMBLiCHEMBL5845.
      DrugBankiDB01189. Desflurane.
      DB00228. Enflurane.
      DB00898. Ethanol.
      DB01381. Ginkgo biloba.
      DB00145. Glycine.
      DB01159. Halothane.
      DB00753. Isoflurane.
      DB00431. Lindane.
      DB01028. Methoxyflurane.
      DB01236. Sevoflurane.
      GuidetoPHARMACOLOGYi423.

      Polymorphism and mutation databases

      BioMutaiGLRA1.
      DMDMi116242495.

      PTM / Processingi

      Molecule processing

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Signal peptidei1 – 28Sequence analysisBy similarityAdd BLAST28
      ChainiPRO_000000041229 – 457Glycine receptor subunit alpha-1Add BLAST429

      Amino acid modifications

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Glycosylationi66N-linked (GlcNAc...)Curated1
      Disulfide bondi166 ↔ 1801 Publication
      Disulfide bondi226 ↔ 2371 Publication

      Keywords - PTMi

      Disulfide bond, Glycoprotein

      Proteomic databases

      PaxDbiP23415.
      PeptideAtlasiP23415.
      PRIDEiP23415.

      PTM databases

      iPTMnetiP23415.
      PhosphoSitePlusiP23415.

      Expressioni

      Gene expression databases

      BgeeiENSG00000145888.
      CleanExiHS_GLRA1.
      ExpressionAtlasiP23415. baseline and differential.
      GenevisibleiP23415. HS.

      Organism-specific databases

      HPAiHPA016502.

      Interactioni

      Subunit structurei

      Homopentamer (in vitro) (PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25730860). Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed:22715885, PubMed:22973015, PubMed:25445488). Heteropentamer composed of two GLRA1 and three GLRB (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed:22973015). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:14551753, PubMed:22715885, PubMed:22973015, PubMed:25445488, PubMed:23994010, PubMed:25730860).6 Publications

      Protein-protein interaction databases

      DIPiDIP-48768N.
      IntActiP23415. 1 interactor.
      STRINGi9606.ENSP00000411593.

      Chemistry databases

      BindingDBiP23415.

      Structurei

      Secondary structure

      1457
      Legend: HelixTurnBeta strandPDB Structure known for this area
      Show more details
      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Turni246 – 248Combined sources3
      Helixi249 – 254Combined sources6
      Helixi256 – 267Combined sources12
      Turni274 – 276Combined sources3
      Helixi278 – 280Combined sources3
      Helixi281 – 284Combined sources4
      Helixi286 – 289Combined sources4
      Helixi291 – 297Combined sources7
      Helixi299 – 301Combined sources3
      Turni310 – 312Combined sources3
      Helixi316 – 323Combined sources8
      Helixi325 – 335Combined sources11
      Helixi367 – 369Combined sources3
      Helixi416 – 419Combined sources4
      Helixi420 – 423Combined sources4
      Turni424 – 426Combined sources3
      Helixi427 – 446Combined sources20
      Turni449 – 453Combined sources5

      3D structure databases

      Select the link destinations:
      PDBei
      RCSB PDBi
      PDBji
      Links Updated
      PDB entryMethodResolution (Å)ChainPositionsPDBsum
      1MOTNMR-A277-304[»]
      1VRYNMR-A278-337[»]
      2M6BNMR-A244-453[»]
      2M6INMR-A/B/C/D/E244-453[»]
      4X5TX-ray3.50A/B/C/D/E246-338[»]
      A/B/C/D/E418-446[»]
      ProteinModelPortaliP23415.
      SMRiP23415.
      ModBaseiSearch...
      MobiDBiSearch...

      Miscellaneous databases

      EvolutionaryTraceiP23415.

      Family & Domainsi

      Region

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Regioni230 – 235Strychnine-bindingBy similarity6

      Domaini

      The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. In the absence of the extracellular domain, the channel is in a constitutively open conformation (PubMed:23994010). Channel opening is effected by an outward rotation of the transmembrane domains that increases the diameter of the pore (By similarity).By similarity1 Publication

      Sequence similaritiesi

      Keywords - Domaini

      Signal, Transmembrane, Transmembrane helix

      Phylogenomic databases

      eggNOGiKOG3643. Eukaryota.
      ENOG410XPWH. LUCA.
      GeneTreeiENSGT00760000118821.
      HOGENOMiHOG000231336.
      HOVERGENiHBG051707.
      InParanoidiP23415.
      KOiK05193.
      OMAiFNFAYGM.
      OrthoDBiEOG090B05Z5.
      PhylomeDBiP23415.
      TreeFamiTF315453.

      Family and domain databases

      Gene3Di2.70.170.10. 1 hit.
      InterProiView protein in InterPro
      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.
      PANTHERiPTHR18945. PTHR18945. 1 hit.
      PfamiView protein in Pfam
      PF02931. Neur_chan_LBD. 1 hit.
      PF02932. Neur_chan_memb. 1 hit.
      PRINTSiPR00253. GABAARECEPTR.
      PR01673. GLYRALPHA.
      PR01674. GLYRALPHA1.
      PR00252. NRIONCHANNEL.
      SUPFAMiSSF63712. SSF63712. 1 hit.
      SSF90112. SSF90112. 1 hit.
      TIGRFAMsiTIGR00860. LIC. 1 hit.
      PROSITEiView protein in PROSITE
      PS00236. NEUROTR_ION_CHANNEL. 1 hit.

      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. AlignAdd to basket

      Isoform a (identifier: P23415-1) [UniParc]FASTAAdd to basket

      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

              10         20         30         40         50
      MYSFNTLRLY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS
      60 70 80 90 100
      GYDARIRPNF KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR
      110 120 130 140 150
      LAYNEYPDDS LDLDPSMLDS IWKPDLFFAN EKGAHFHEIT TDNKLLRISR
      160 170 180 190 200
      NGNVLYSIRI TLTLACPMDL KNFPMDVQTC IMQLESFGYT MNDLIFEWQE
      210 220 230 240 250
      QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA RFHLERQMGY
      260 270 280 290 300
      YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA
      310 320 330 340 350
      SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR
      360 370 380 390 400
      HHKSPMLNLF QEDEAGEGRF NFSAYGMGPA CLQAKDGISV KGANNSNTTN
      410 420 430 440 450
      PPPAPSKSPE EMRKLFIQRA KKIDKISRIG FPMAFLIFNM FYWIIYKIVR

      REDVHNQ
      Length:457
      Mass (Da):52,624
      Last modified:October 17, 2006 - v2
      Checksum:i5ED80AF62B06A3AA
      GO
      Isoform b (identifier: P23415-2) [UniParc]FASTAAdd to basket

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

      Show »
      Length:449
      Mass (Da):51,693
      Checksum:i8F6EEB28634E2A94
      GO

      Experimental Info

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Sequence conflicti12 – 14WET → SGA in CAA36258 (PubMed:2155780).Curated3
      Sequence conflicti33P → T in CAA36258 (PubMed:2155780).Curated1

      Natural variant

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Natural variantiVAR_07541893R → W in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with S-258. 1 PublicationCorresponds to variant dbSNP:rs199547699Ensembl.1
      Natural variantiVAR_075419100R → C in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication1
      Natural variantiVAR_075420246R → W in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 PublicationCorresponds to variant dbSNP:rs751659671Ensembl.1
      Natural variantiVAR_075421254Q → E in HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075422258P → S in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with W-93. 1 Publication1
      Natural variantiVAR_000296272I → N in HKPX1; requires much higher glycine levels for channel activation. 2 PublicationsCorresponds to variant dbSNP:rs121918409Ensembl.1
      Natural variantiVAR_010112278P → T in HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization. 2 PublicationsCorresponds to variant dbSNP:rs121918413Ensembl.1
      Natural variantiVAR_010113280R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864918Ensembl.1
      Natural variantiVAR_000297294Q → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs121918411Ensembl.1
      Natural variantiVAR_000298299R → L in HKPX1; requires much higher glycine levels for channel activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408Ensembl.1
      Natural variantiVAR_000299299R → Q in HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408Ensembl.1
      Natural variantiVAR_000300304K → E in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918412Ensembl.1
      Natural variantiVAR_000301307Y → C in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918410Ensembl.1
      Natural variantiVAR_075423308V → M in HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075424319L → P in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with A-424. 1 Publication1
      Natural variantiVAR_075425424D → A in HKPX1; abolishes expression at the cell membrane; compound heterozygote with P-319. 1 Publication1
      Natural variantiVAR_010114428R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864919Ensembl.1
      Natural variantiVAR_075426450R → H in HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening. 1 PublicationCorresponds to variant dbSNP:rs200130685Ensembl.1

      Alternative sequence

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Alternative sequenceiVSP_021142354 – 361Missing in isoform b. 3 Publications8

      Sequence databases

      Select the link destinations:
      EMBLi
      GenBanki
      DDBJi
      Links Updated
      X52009 mRNA. Translation: CAA36258.1.
      AK312702 mRNA. Translation: BAG35580.1.
      CH471062 Genomic DNA. Translation: EAW61657.1.
      BC074980 mRNA. Translation: AAH74980.1.
      BC114947 mRNA. Translation: AAI14948.1.
      CCDSiCCDS4320.1. [P23415-2]
      CCDS54942.1. [P23415-1]
      PIRiS12382.
      RefSeqiNP_000162.2. NM_000171.3. [P23415-2]
      NP_001139512.1. NM_001146040.1. [P23415-1]
      UniGeneiHs.121490.

      Genome annotation databases

      EnsembliENST00000274576; ENSP00000274576; ENSG00000145888. [P23415-2]
      ENST00000455880; ENSP00000411593; ENSG00000145888. [P23415-1]
      GeneIDi2741.
      KEGGihsa:2741.
      UCSCiuc003lur.4. human. [P23415-1]

      Keywords - Coding sequence diversityi

      Alternative splicing

      Cross-referencesi

      Sequence databases

      Select the link destinations:
      EMBLi
      GenBanki
      DDBJi
      Links Updated
      X52009 mRNA. Translation: CAA36258.1.
      AK312702 mRNA. Translation: BAG35580.1.
      CH471062 Genomic DNA. Translation: EAW61657.1.
      BC074980 mRNA. Translation: AAH74980.1.
      BC114947 mRNA. Translation: AAI14948.1.
      CCDSiCCDS4320.1. [P23415-2]
      CCDS54942.1. [P23415-1]
      PIRiS12382.
      RefSeqiNP_000162.2. NM_000171.3. [P23415-2]
      NP_001139512.1. NM_001146040.1. [P23415-1]
      UniGeneiHs.121490.

      3D structure databases

      Select the link destinations:
      PDBei
      RCSB PDBi
      PDBji
      Links Updated
      PDB entryMethodResolution (Å)ChainPositionsPDBsum
      1MOTNMR-A277-304[»]
      1VRYNMR-A278-337[»]
      2M6BNMR-A244-453[»]
      2M6INMR-A/B/C/D/E244-453[»]
      4X5TX-ray3.50A/B/C/D/E246-338[»]
      A/B/C/D/E418-446[»]
      ProteinModelPortaliP23415.
      SMRiP23415.
      ModBaseiSearch...
      MobiDBiSearch...

      Protein-protein interaction databases

      DIPiDIP-48768N.
      IntActiP23415. 1 interactor.
      STRINGi9606.ENSP00000411593.

      Chemistry databases

      BindingDBiP23415.
      ChEMBLiCHEMBL5845.
      DrugBankiDB01189. Desflurane.
      DB00228. Enflurane.
      DB00898. Ethanol.
      DB01381. Ginkgo biloba.
      DB00145. Glycine.
      DB01159. Halothane.
      DB00753. Isoflurane.
      DB00431. Lindane.
      DB01028. Methoxyflurane.
      DB01236. Sevoflurane.
      GuidetoPHARMACOLOGYi423.

      Protein family/group databases

      TCDBi1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

      PTM databases

      iPTMnetiP23415.
      PhosphoSitePlusiP23415.

      Polymorphism and mutation databases

      BioMutaiGLRA1.
      DMDMi116242495.

      Proteomic databases

      PaxDbiP23415.
      PeptideAtlasiP23415.
      PRIDEiP23415.

      Protocols and materials databases

      Structural Biology KnowledgebaseSearch...

      Genome annotation databases

      EnsembliENST00000274576; ENSP00000274576; ENSG00000145888. [P23415-2]
      ENST00000455880; ENSP00000411593; ENSG00000145888. [P23415-1]
      GeneIDi2741.
      KEGGihsa:2741.
      UCSCiuc003lur.4. human. [P23415-1]

      Organism-specific databases

      CTDi2741.
      DisGeNETi2741.
      GeneCardsiGLRA1.
      GeneReviewsiGLRA1.
      HGNCiHGNC:4326. GLRA1.
      HPAiHPA016502.
      MalaCardsiGLRA1.
      MIMi138491. gene.
      149400. phenotype.
      neXtProtiNX_P23415.
      OpenTargetsiENSG00000145888.
      Orphaneti3197. Hereditary hyperekplexia.
      PharmGKBiPA28727.
      GenAtlasiSearch...

      Phylogenomic databases

      eggNOGiKOG3643. Eukaryota.
      ENOG410XPWH. LUCA.
      GeneTreeiENSGT00760000118821.
      HOGENOMiHOG000231336.
      HOVERGENiHBG051707.
      InParanoidiP23415.
      KOiK05193.
      OMAiFNFAYGM.
      OrthoDBiEOG090B05Z5.
      PhylomeDBiP23415.
      TreeFamiTF315453.

      Enzyme and pathway databases

      ReactomeiR-HSA-975298. Ligand-gated ion channel transport.

      Miscellaneous databases

      EvolutionaryTraceiP23415.
      GeneWikiiGlycine_receptor,_alpha_1.
      GenomeRNAii2741.
      PROiP23415.
      SOURCEiSearch...

      Gene expression databases

      BgeeiENSG00000145888.
      CleanExiHS_GLRA1.
      ExpressionAtlasiP23415. baseline and differential.
      GenevisibleiP23415. HS.

      Family and domain databases

      Gene3Di2.70.170.10. 1 hit.
      InterProiView protein in InterPro
      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.
      PANTHERiPTHR18945. PTHR18945. 1 hit.
      PfamiView protein in Pfam
      PF02931. Neur_chan_LBD. 1 hit.
      PF02932. Neur_chan_memb. 1 hit.
      PRINTSiPR00253. GABAARECEPTR.
      PR01673. GLYRALPHA.
      PR01674. GLYRALPHA1.
      PR00252. NRIONCHANNEL.
      SUPFAMiSSF63712. SSF63712. 1 hit.
      SSF90112. SSF90112. 1 hit.
      TIGRFAMsiTIGR00860. LIC. 1 hit.
      PROSITEiView protein in PROSITE
      PS00236. NEUROTR_ION_CHANNEL. 1 hit.
      ProtoNetiSearch...

      Entry informationi

      Entry nameiGLRA1_HUMAN
      AccessioniPrimary (citable) accession number: P23415
      Secondary accession number(s): B2R6T3, Q14C77, Q6DJV9
      Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
      Last sequence update: October 17, 2006
      Last modified: February 15, 2017
      This is version 185 of the entry and version 2 of the sequence. See complete history.
      Entry statusiReviewed (UniProtKB/Swiss-Prot)
      Annotation programChordata Protein Annotation Program
      DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

      Miscellaneousi

      Miscellaneous

      The alpha subunit binds strychnine.1 Publication

      Keywords - Technical termi

      3D-structure, Complete proteome, Reference proteome

      Documents

      1. Human chromosome 5
        Human chromosome 5: entries, gene names and cross-references to MIM
      2. Human entries with polymorphisms or disease mutations
        List of human entries with polymorphisms or disease mutations
      3. Human polymorphisms and disease mutations
        Index of human polymorphisms and disease mutations
      4. MIM cross-references
        Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
      5. PDB cross-references
        Index of Protein Data Bank (PDB) cross-references
      6. SIMILARITY comments
        Index of protein domains and families

      Similar proteinsi

      Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
      100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
      90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
      50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.