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P23415

- GLRA1_HUMAN

UniProt

P23415 - GLRA1_HUMAN

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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

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

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
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_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. inhibitory synapse Source: Ensembl
  5. integral component of membrane Source: UniProtKB
  6. integral component of plasma membrane Source: UniProtKB
  7. intracellular membrane-bounded organelle Source: UniProtKB
  8. plasma membrane Source: Reactome
  9. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiP23415.
CleanExiHS_GLRA1.
ExpressionAtlasiP23415. baseline.
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 37-453.
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.
GeneTreeiENSGT00760000118821.
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

        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 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 37-453.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-48768N.
STRINGi 9606.ENSP00000274576.

Chemistry

BindingDBi P23415.
ChEMBLi CHEMBL2363052.
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.
GeneTreei ENSGT00760000118821.
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

Bgeei P23415.
CleanExi HS_GLRA1.
ExpressionAtlasi P23415. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 164 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