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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)LengthDescriptionGraphical viewFeature identifierActions
      Metal bindingi220 – 2201Zinc1 Publication
      Metal bindingi222 – 2221Zinc1 Publication
      Metal bindingi243 – 2431Zinc1 Publication
      Sitei289 – 2891Important for obstruction of the ion pore in the closed conformation1 Publication

      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
      Complete GO annotation...

      Keywords - Molecular functioni

      Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

      Keywords - Biological processi

      Ion transport, Transport

      Keywords - Ligandi

      Chloride, 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)LengthDescriptionGraphical viewFeature identifierActions
      Topological domaini29 – 250222ExtracellularCuratedAdd
      BLAST
      Transmembranei251 – 27222Helical; Name=12 PublicationsAdd
      BLAST
      Topological domaini273 – 2775Cytoplasmic2 Publications
      Transmembranei278 – 29821Helical; Name=22 PublicationsAdd
      BLAST
      Topological domaini299 – 30911Extracellular2 PublicationsAdd
      BLAST
      Transmembranei310 – 33021Helical; Name=32 PublicationsAdd
      BLAST
      Topological domaini331 – 42595Cytoplasmic1 PublicationAdd
      BLAST
      Transmembranei426 – 44621Helical; Name=41 PublicationAdd
      BLAST
      Topological domaini447 – 45711ExtracellularCuratedAdd
      BLAST

      GO - Cellular componenti

      Complete GO annotation...

      Keywords - Cellular componenti

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

      Pathology & Biotechi

      Involvement in diseasei

      Hyperekplexia 1 (HKPX1)11 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)LengthDescriptionGraphical viewFeature identifierActions
      Natural varianti93 – 931R → W in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with S-258. 1 Publication
      Corresponds to variant rs199547699 [ dbSNP | Ensembl ].
      VAR_075418
      Natural varianti100 – 1001R → C in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication
      VAR_075419
      Natural varianti246 – 2461R → W in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication
      Corresponds to variant rs751659671 [ dbSNP | Ensembl ].
      VAR_075420
      Natural varianti254 – 2541Q → E in HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications
      VAR_075421
      Natural varianti258 – 2581P → S in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with W-93. 1 Publication
      VAR_075422
      Natural varianti272 – 2721I → N in HKPX1; requires much higher glycine levels for channel activation. 2 Publications
      Corresponds to variant rs121918409 [ dbSNP | Ensembl ].
      VAR_000296
      Natural varianti278 – 2781P → T in HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization. 2 Publications
      Corresponds to variant rs121918413 [ dbSNP | Ensembl ].
      VAR_010112
      Natural varianti280 – 2801R → H in HKPX1. 1 Publication
      Corresponds to variant rs281864918 [ dbSNP | Ensembl ].
      VAR_010113
      Natural varianti294 – 2941Q → H in HKPX1. 1 Publication
      Corresponds to variant rs121918411 [ dbSNP | Ensembl ].
      VAR_000297
      Natural varianti299 – 2991R → L in HKPX1; requires much higher glycine levels for channel activation. 4 Publications
      Corresponds to variant rs121918408 [ dbSNP | Ensembl ].
      VAR_000298
      Natural varianti299 – 2991R → Q in HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation. 4 Publications
      Corresponds to variant rs121918408 [ dbSNP | Ensembl ].
      VAR_000299
      Natural varianti304 – 3041K → E in HKPX1; requires much higher glycine levels for channel activation. 3 Publications
      Corresponds to variant rs121918412 [ dbSNP | Ensembl ].
      VAR_000300
      Natural varianti307 – 3071Y → C in HKPX1; requires much higher glycine levels for channel activation. 3 Publications
      Corresponds to variant rs121918410 [ dbSNP | Ensembl ].
      VAR_000301
      Natural varianti308 – 3081V → M in HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications
      VAR_075423
      Natural varianti319 – 3191L → P in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with A-424. 1 Publication
      VAR_075424
      Natural varianti424 – 4241D → A in HKPX1; abolishes expression at the cell membrane; compound heterozygote with P-319. 1 Publication
      VAR_075425
      Natural varianti428 – 4281R → H in HKPX1. 1 Publication
      Corresponds to variant rs281864919 [ dbSNP | Ensembl ].
      VAR_010114
      Natural varianti450 – 4501R → H in HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening. 1 Publication
      Corresponds to variant rs200130685 [ dbSNP | Ensembl ].
      VAR_075426

      Mutagenesis

      Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
      Mutagenesisi80 – 801A → S: The mutant channel requires much higher glycine concentrations for activation. 1 Publication
      Mutagenesisi137 – 1371H → F: Abolishes sensitivity of channel activity to potentiation or inhibition by Zn(2+); when associated with K-222. 1 Publication
      Mutagenesisi137 – 1371H → N: Strongly decreases sensitivity to inhibition by Zn(2+). 1 Publication
      Mutagenesisi220 – 2201E → A: Abolishes potentiation of channel activity by Zn(2+). 1 Publication
      Mutagenesisi222 – 2221D → A: Abolishes potentiation of channel activity by Zn(2+). 1 Publication
      Mutagenesisi222 – 2221D → K: Abolishes sensitivity of channel activity to potentiation or inhibition by Zn(2+); when associated with F-137. 1 Publication
      Mutagenesisi243 – 2431H → A: Strongly decreases potentiation of channel activity by Zn(2+). 1 Publication
      Mutagenesisi282 – 2821G → A: Increased single-channel conductance. No effect on glycine sensitivity, but decreased rate of activation. 1 Publication
      Mutagenesisi304 – 3041K → C: Decreases channel conductance; the mutant channel requires much higher glycine concentrations for activation. 1 Publication

      Keywords - Diseasei

      Disease mutation

      Organism-specific databases

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

      Chemistry

      ChEMBLiCHEMBL2363052.
      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)LengthDescriptionGraphical viewFeature identifierActions
      Signal peptidei1 – 2828Sequence analysisBy similarityAdd
      BLAST
      Chaini29 – 457429Glycine receptor subunit alpha-1PRO_0000000412Add
      BLAST

      Amino acid modifications

      Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
      Glycosylationi66 – 661N-linked (GlcNAc...)Curated
      Disulfide bondi166 ↔ 1801 Publication
      Disulfide bondi226 ↔ 2371 Publication

      Keywords - PTMi

      Disulfide bond, Glycoprotein

      Proteomic databases

      PaxDbiP23415.
      PeptideAtlasiP23415.
      PRIDEiP23415.

      PTM databases

      iPTMnetiP23415.
      PhosphoSiteiP23415.

      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.
      STRINGi9606.ENSP00000411593.

      Chemistry

      BindingDBiP23415.

      Structurei

      Secondary structure

      1
      457
      Legend: HelixTurnBeta strand
      Show more details
      Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
      Turni246 – 2483Combined sources
      Helixi249 – 2546Combined sources
      Helixi256 – 26712Combined sources
      Turni274 – 2763Combined sources
      Helixi278 – 2803Combined sources
      Helixi281 – 2844Combined sources
      Helixi286 – 2894Combined sources
      Helixi291 – 2977Combined sources
      Helixi299 – 3013Combined sources
      Turni310 – 3123Combined sources
      Helixi316 – 3238Combined sources
      Helixi325 – 33511Combined sources
      Helixi367 – 3693Combined sources
      Helixi416 – 4194Combined sources
      Helixi420 – 4234Combined sources
      Turni424 – 4263Combined sources
      Helixi427 – 44620Combined sources
      Turni449 – 4535Combined sources

      3D structure databases

      Select the link destinations:
      PDBei
      RCSB PDBi
      PDBji
      Links Updated
      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. Positions 37-451.
      ModBaseiSearch...
      MobiDBiSearch...

      Miscellaneous databases

      EvolutionaryTraceiP23415.

      Family & Domainsi

      Region

      Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
      Regioni230 – 2356Strychnine-bindingBy similarity

      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.
      OrthoDBiEOG091G0805.
      PhylomeDBiP23415.
      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. 1 hit.
      [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. 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)LengthDescriptionGraphical viewFeature identifierActions
      Sequence conflicti12 – 143WET → SGA in CAA36258 (PubMed:2155780).Curated
      Sequence conflicti33 – 331P → T in CAA36258 (PubMed:2155780).Curated

      Natural variant

      Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
      Natural varianti93 – 931R → W in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with S-258. 1 Publication
      Corresponds to variant rs199547699 [ dbSNP | Ensembl ].
      VAR_075418
      Natural varianti100 – 1001R → C in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication
      VAR_075419
      Natural varianti246 – 2461R → W in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication
      Corresponds to variant rs751659671 [ dbSNP | Ensembl ].
      VAR_075420
      Natural varianti254 – 2541Q → E in HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications
      VAR_075421
      Natural varianti258 – 2581P → S in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with W-93. 1 Publication
      VAR_075422
      Natural varianti272 – 2721I → N in HKPX1; requires much higher glycine levels for channel activation. 2 Publications
      Corresponds to variant rs121918409 [ dbSNP | Ensembl ].
      VAR_000296
      Natural varianti278 – 2781P → T in HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization. 2 Publications
      Corresponds to variant rs121918413 [ dbSNP | Ensembl ].
      VAR_010112
      Natural varianti280 – 2801R → H in HKPX1. 1 Publication
      Corresponds to variant rs281864918 [ dbSNP | Ensembl ].
      VAR_010113
      Natural varianti294 – 2941Q → H in HKPX1. 1 Publication
      Corresponds to variant rs121918411 [ dbSNP | Ensembl ].
      VAR_000297
      Natural varianti299 – 2991R → L in HKPX1; requires much higher glycine levels for channel activation. 4 Publications
      Corresponds to variant rs121918408 [ dbSNP | Ensembl ].
      VAR_000298
      Natural varianti299 – 2991R → Q in HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation. 4 Publications
      Corresponds to variant rs121918408 [ dbSNP | Ensembl ].
      VAR_000299
      Natural varianti304 – 3041K → E in HKPX1; requires much higher glycine levels for channel activation. 3 Publications
      Corresponds to variant rs121918412 [ dbSNP | Ensembl ].
      VAR_000300
      Natural varianti307 – 3071Y → C in HKPX1; requires much higher glycine levels for channel activation. 3 Publications
      Corresponds to variant rs121918410 [ dbSNP | Ensembl ].
      VAR_000301
      Natural varianti308 – 3081V → M in HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications
      VAR_075423
      Natural varianti319 – 3191L → P in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with A-424. 1 Publication
      VAR_075424
      Natural varianti424 – 4241D → A in HKPX1; abolishes expression at the cell membrane; compound heterozygote with P-319. 1 Publication
      VAR_075425
      Natural varianti428 – 4281R → H in HKPX1. 1 Publication
      Corresponds to variant rs281864919 [ dbSNP | Ensembl ].
      VAR_010114
      Natural varianti450 – 4501R → H in HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening. 1 Publication
      Corresponds to variant rs200130685 [ dbSNP | Ensembl ].
      VAR_075426

      Alternative sequence

      Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
      Alternative sequencei354 – 3618Missing in isoform b. 3 PublicationsVSP_021142

      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
      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. Positions 37-451.
      ModBaseiSearch...
      MobiDBiSearch...

      Protein-protein interaction databases

      DIPiDIP-48768N.
      STRINGi9606.ENSP00000411593.

      Chemistry

      BindingDBiP23415.
      ChEMBLiCHEMBL2363052.
      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.
      PhosphoSiteiP23415.

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

      Phylogenomic databases

      eggNOGiKOG3643. Eukaryota.
      ENOG410XPWH. LUCA.
      GeneTreeiENSGT00760000118821.
      HOGENOMiHOG000231336.
      HOVERGENiHBG051707.
      InParanoidiP23415.
      KOiK05193.
      OMAiFNFAYGM.
      OrthoDBiEOG091G0805.
      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.
      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. 1 hit.
      [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]
      ProtoNetiSearch...

      Entry informationi

      Entry nameiGLRA1_HUMAN
      AccessioniPrimary (citable) accession number: P23415
      Secondary accession number(s): B2R6T3, Q14C77, Q6DJV9
      Entry historyi
      Integrated into UniProtKB/Swiss-Prot: November 1, 1991
      Last sequence update: October 17, 2006
      Last modified: September 7, 2016
      This is version 181 of the entry and version 2 of the sequence. [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.