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P23415

- GLRA1_HUMAN

UniProt

P23415 - GLRA1_HUMAN

Protein

Glycine receptor subunit alpha-1

Gene

GLRA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 163 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    4. taurine binding Source: UniProtKB
    5. transmitter-gated ion channel activity Source: InterPro

    GO - Biological processi

    1. acrosome reaction Source: Ensembl
    2. action potential Source: Ensembl
    3. adult walking behavior Source: Ensembl
    4. chloride transmembrane transport Source: GOC
    5. chloride transport Source: UniProtKB
    6. ion transmembrane transport Source: Reactome
    7. ion transport Source: UniProtKB
    8. muscle contraction Source: UniProtKB
    9. negative regulation of transmission of nerve impulse Source: UniProtKB
    10. neuromuscular process controlling posture Source: Ensembl
    11. neuropeptide signaling pathway Source: UniProtKB
    12. positive regulation of acrosome reaction Source: UniProtKB
    13. regulation of inhibitory postsynaptic membrane potential Source: Ensembl
    14. regulation of membrane potential Source: MGI
    15. regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
    16. righting reflex Source: Ensembl
    17. startle response Source: UniProtKB
    18. synaptic transmission, glycinergic Source: Ensembl
    19. transmembrane transport Source: Reactome
    20. visual perception Source: Ensembl

    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_25387. 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
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4326. GLRA1.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. chloride channel complex Source: UniProtKB-KW
    3. external side of plasma membrane Source: Ensembl
    4. integral component of membrane Source: UniProtKB
    5. integral component of plasma membrane Source: UniProtKB
    6. intracellular membrane-bounded organelle Source: UniProtKB
    7. plasma membrane Source: Reactome
    8. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Hyperekplexia 1 (HKPX1) [MIM:149400]: A 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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti272 – 2721I → N in HKPX1. 1 Publication
    VAR_000296
    Natural varianti278 – 2781P → T in HKPX1. 1 Publication
    VAR_010112
    Natural varianti280 – 2801R → H in HKPX1. 1 Publication
    VAR_010113
    Natural varianti294 – 2941Q → H in HKPX1. 1 Publication
    VAR_000297
    Natural varianti299 – 2991R → L in HKPX1; decreased potency of glycine to activate the channel. 2 Publications
    VAR_000298
    Natural varianti299 – 2991R → Q in HKPX1; decreased potency of glycine to activate the channel. 1 Publication
    VAR_000299
    Natural varianti304 – 3041K → E in HKPX1. 2 Publications
    VAR_000300
    Natural varianti307 – 3071Y → C in HKPX1. 2 Publications
    VAR_000301
    Natural varianti428 – 4281R → H in HKPX1. 1 Publication
    VAR_010114

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi149400. phenotype.
    Orphaneti3197. Hereditary hyperekplexia.
    PharmGKBiPA28727.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Sequence AnalysisAdd
    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.
    PRIDEiP23415.

    PTM databases

    PhosphoSiteiP23415.

    Expressioni

    Gene expression databases

    ArrayExpressiP23415.
    BgeeiP23415.
    CleanExiHS_GLRA1.
    GenevestigatoriP23415.

    Organism-specific databases

    HPAiHPA016502.

    Interactioni

    Subunit structurei

    Pentamer composed of three alpha and two beta subunits. Homopentamers of alpha subunits also form functional receptors.1 Publication

    Protein-protein interaction databases

    DIPiDIP-48768N.
    STRINGi9606.ENSP00000274576.

    Structurei

    Secondary structure

    1
    457
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni246 – 2483
    Helixi249 – 27325
    Turni274 – 2763
    Helixi279 – 29113
    Beta strandi294 – 3018
    Helixi305 – 3139
    Helixi315 – 33521
    Helixi367 – 3693
    Helixi416 – 4194
    Helixi425 – 44824
    Turni449 – 4535

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1MOTNMR-A277-304[»]
    1VRYNMR-A278-337[»]
    2M6BNMR-A244-453[»]
    2M6INMR-A/B/C/D/E244-453[»]
    ProteinModelPortaliP23415.
    SMRiP23415. Positions 49-355, 416-453.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP23415.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini29 – 247219ExtracellularCuratedAdd
    BLAST
    Topological domaini337 – 42892CytoplasmicCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei248 – 27427HelicalCuratedAdd
    BLAST
    Transmembranei281 – 29818HelicalCuratedAdd
    BLAST
    Transmembranei313 – 33624HelicalCuratedAdd
    BLAST
    Transmembranei429 – 44618HelicalCuratedAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni225 – 2306Strychnine-bindingBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG265706.
    HOGENOMiHOG000231336.
    HOVERGENiHBG051707.
    InParanoidiP23415.
    KOiK05193.
    OMAiNTANPVP.
    OrthoDBiEOG712TVZ.
    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. 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: 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

    MYSFNTLRLY 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 QEDEAGEGRF NFSAYGMGPA CLQAKDGISV KGANNSNTTN 400
    PPPAPSKSPE EMRKLFIQRA KKIDKISRIG FPMAFLIFNM FYWIIYKIVR 450
    REDVHNQ 457
    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 varianti272 – 2721I → N in HKPX1. 1 Publication
    VAR_000296
    Natural varianti278 – 2781P → T in HKPX1. 1 Publication
    VAR_010112
    Natural varianti280 – 2801R → H in HKPX1. 1 Publication
    VAR_010113
    Natural varianti294 – 2941Q → H in HKPX1. 1 Publication
    VAR_000297
    Natural varianti299 – 2991R → L in HKPX1; decreased potency of glycine to activate the channel. 2 Publications
    VAR_000298
    Natural varianti299 – 2991R → Q in HKPX1; decreased potency of glycine to activate the channel. 1 Publication
    VAR_000299
    Natural varianti304 – 3041K → E in HKPX1. 2 Publications
    VAR_000300
    Natural varianti307 – 3071Y → C in HKPX1. 2 Publications
    VAR_000301
    Natural varianti428 – 4281R → H in HKPX1. 1 Publication
    VAR_010114

    Alternative sequence

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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human. [P23415-2]
    uc003lut.3. human. [P23415-1]

    Polymorphism databases

    DMDMi116242495.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS4320.1. [P23415-2 ]
    CCDS54942.1. [P23415-1 ]
    PIRi S12382.
    RefSeqi NP_000162.2. NM_000171.3. [P23415-2 ]
    NP_001139512.1. NM_001146040.1. [P23415-1 ]
    UniGenei Hs.121490.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1MOT NMR - A 277-304 [» ]
    1VRY NMR - A 278-337 [» ]
    2M6B NMR - A 244-453 [» ]
    2M6I NMR - A/B/C/D/E 244-453 [» ]
    ProteinModelPortali P23415.
    SMRi P23415. Positions 49-355, 416-453.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-48768N.
    STRINGi 9606.ENSP00000274576.

    Chemistry

    BindingDBi P23415.
    ChEMBLi CHEMBL5845.
    DrugBanki DB01189. Desflurane.
    DB00228. Enflurane.
    DB00898. Ethanol.
    DB01381. Ginkgo biloba.
    DB00145. Glycine.
    DB01159. Halothane.
    DB00753. Isoflurane.
    DB00431. Lindane.
    DB01028. Methoxyflurane.
    DB01236. Sevoflurane.
    GuidetoPHARMACOLOGYi 423.

    Protein family/group databases

    TCDBi 1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    PTM databases

    PhosphoSitei P23415.

    Polymorphism databases

    DMDMi 116242495.

    Proteomic databases

    PaxDbi P23415.
    PRIDEi P23415.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000274576 ; ENSP00000274576 ; ENSG00000145888 . [P23415-2 ]
    ENST00000455880 ; ENSP00000411593 ; ENSG00000145888 . [P23415-1 ]
    GeneIDi 2741.
    KEGGi hsa:2741.
    UCSCi uc003lur.3. human. [P23415-2 ]
    uc003lut.3. human. [P23415-1 ]

    Organism-specific databases

    CTDi 2741.
    GeneCardsi GC05M151182.
    GeneReviewsi GLRA1.
    HGNCi HGNC:4326. GLRA1.
    HPAi HPA016502.
    MIMi 138491. gene.
    149400. phenotype.
    neXtProti NX_P23415.
    Orphaneti 3197. Hereditary hyperekplexia.
    PharmGKBi PA28727.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG265706.
    HOGENOMi HOG000231336.
    HOVERGENi HBG051707.
    InParanoidi P23415.
    KOi K05193.
    OMAi NTANPVP.
    OrthoDBi EOG712TVZ.
    PhylomeDBi P23415.
    TreeFami TF315453.

    Enzyme and pathway databases

    Reactomei REACT_25387. Ligand-gated ion channel transport.

    Miscellaneous databases

    EvolutionaryTracei P23415.
    GeneWikii Glycine_receptor,_alpha_1.
    GenomeRNAii 2741.
    NextBioi 10804.
    PROi P23415.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P23415.
    Bgeei P23415.
    CleanExi HS_GLRA1.
    Genevestigatori P23415.

    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

    1. "Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes."
      Grenningloh G., Schmieden V., Schofield P.R., Seeburg P.H., Siddique T., Mohandas T.K., Becker C.-M., Betz H.
      EMBO J. 9:771-776(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
    5. "Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor."
      Vogel N., Kluck C.J., Melzer N., Schwarzinger S., Breitinger U., Seeber S., Becker C.M.
      J. Biol. Chem. 284:36128-36136(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISULFIDE BONDS.
    6. "Stoichiometry of the human glycine receptor revealed by direct subunit counting."
      Durisic N., Godin A.G., Wever C.M., Heyes C.D., Lakadamyali M., Dent J.A.
      J. Neurosci. 32:12915-12920(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT STOICHIOMETRY.
    7. "NMR structure and backbone dynamics of the extended second transmembrane domain of the human neuronal glycine receptor alpha1 subunit."
      Yushmanov V.E., Mandal P.K., Liu Z., Tang P., Xu Y.
      Biochemistry 42:3989-3995(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 277-304.
    8. "Structure and dynamics of the second and third transmembrane domains of human glycine receptor."
      Ma D., Liu Z., Li L., Tang P., Xu Y.
      Biochemistry 44:8790-8800(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 278-337.
    9. "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia."
      Shiang R., Ryan S.G., Zhu Y.-Z., Hahn A.F., O'Connell P., Wasmuth J.J.
      Nat. Genet. 5:351-357(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HKPX1 LEU-299 AND GLN-299.
    10. "Mutational and haplotype analysis of the aplha1 subunit of the glycine receptor in hyperekplexia patients."
      Shiang R., Ryan S.G., Zhu Y.-Z., O'Connell P., Wasmuth J.J.
      Am. J. Hum. Genet. 55:A242-A242(1994)
      Cited for: VARIANT HKPX1 CYS-307.
    11. "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia."
      Langosch D., Laube B., Runstroem N., Schmieden V., Bormann J., Betz H.
      EMBO J. 13:4223-4228(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS HKPX1 LEU-299 AND GLN-299.
    12. "An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene."
      Schorderet D.F., Pescia G., Bernasconi A., Regli F.
      Hum. Mol. Genet. 3:1201-1201(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HKPX1 LEU-299.
    13. "Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor."
      Rees M.I., Andrew M., Jawad S., Owen M.J.
      Hum. Mol. Genet. 3:2175-2179(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HKPX1 ASN-272.
    14. Cited for: VARIANT HKPX1 CYS-307.
    15. "A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia."
      Milani N., Dalpra L., del Prete A., Zanini R., Larizza L.
      Am. J. Hum. Genet. 58:420-422(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HKPX1 HIS-294.
    16. "Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis."
      Elmslie F.V., Hutchings S.M., Spencer V., Curtis A., Covanis T., Gardiner R.M., Rees M.
      J. Med. Genet. 33:435-436(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HKPX1 GLU-304.
    17. "Startle disease in an Italian family by mutation (K276E): the alpha-subunit of the inhibiting glycine receptor."
      Seri M., Bolino A., Galietta L.J.V., Lerone M., Silengo M., Romeo G.
      Hum. Mutat. 9:185-187(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HKPX1 GLU-304.
    18. "Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations."
      Vergouwe M.N., Tijssen M.A., Peters A.C., Wielaard R., Frants R.R.
      Ann. Neurol. 46:634-638(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HKPX1 HIS-280 AND HIS-428.
    19. "Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating."
      Saul B., Kuner T., Sobetzko D., Brune W., Hanefeld F., Meinck H.-M., Becker C.-M.
      J. Neurosci. 19:869-877(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HKPX1 THR-278.

    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: October 1, 2014
    This is version 163 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.

    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

    External Data

    Dasty 3