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P14867

- GBRA1_HUMAN

UniProt

P14867 - GBRA1_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit alpha-1

Gene

GABRA1

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 3 (17 Jan 2003)
      Previous versions | rss
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    Functioni

    Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel By similarity.By similarity

    GO - Molecular functioni

    1. chloride channel activity Source: UniProtKB-KW
    2. drug binding Source: BHF-UCL
    3. extracellular ligand-gated ion channel activity Source: InterPro
    4. GABA-A receptor activity Source: ProtInc

    GO - Biological processi

    1. gamma-aminobutyric acid signaling pathway Source: ProtInc
    2. ion transmembrane transport Source: Reactome
    3. synaptic transmission Source: Reactome
    4. synaptic transmission, GABAergic Source: BHF-UCL
    5. transmembrane transport Source: Reactome
    6. transport Source: ProtInc

    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_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-1
    Alternative name(s):
    GABA(A) receptor subunit alpha-1
    Gene namesi
    Name:GABRA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4075. GABRA1.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. chloride channel complex Source: UniProtKB-KW
    3. integral component of plasma membrane Source: BHF-UCL
    4. plasma membrane Source: Reactome
    5. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Epilepsy, childhood absence 4 (ECA4) [MIM:611136]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti322 – 3221A → D in EJM5. 1 Publication
    VAR_013642

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi611136. phenotype.
    Orphaneti64280. Childhood absence epilepsy.
    307. Juvenile myoclonic epilepsy.
    PharmGKBiPA28489.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Chaini28 – 456429Gamma-aminobutyric acid receptor subunit alpha-1PRO_0000000428Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi38 – 381N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi166 ↔ 180By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP14867.
    PRIDEiP14867.

    PTM databases

    PhosphoSiteiP14867.

    Expressioni

    Gene expression databases

    ArrayExpressiP14867.
    BgeeiP14867.
    CleanExiHS_GABRA1.
    GenevestigatoriP14867.

    Organism-specific databases

    HPAiCAB022502.
    HPA055746.

    Interactioni

    Subunit structurei

    Interacts with TRAK1. Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Binds UBQLN1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi108828. 3 interactions.
    IntActiP14867. 1 interaction.
    STRINGi9606.ENSP00000023897.

    Structurei

    3D structure databases

    ProteinModelPortaliP14867.
    SMRiP14867. Positions 43-341.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini28 – 251224ExtracellularCuratedAdd
    BLAST
    Topological domaini335 – 42187CytoplasmicCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei252 – 27322HelicalCuratedAdd
    BLAST
    Transmembranei279 – 30022HelicalCuratedAdd
    BLAST
    Transmembranei313 – 33422HelicalCuratedAdd
    BLAST
    Transmembranei422 – 44322HelicalCuratedAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG238757.
    HOGENOMiHOG000231337.
    HOVERGENiHBG051707.
    InParanoidiP14867.
    KOiK05175.
    OMAiAPNIARD.
    OrthoDBiEOG7JX342.
    PhylomeDBiP14867.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR001390. GABAAa_rcpt.
    IPR005431. GABBAa1_rcpt.
    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]
    PRINTSiPR01079. GABAARALPHA.
    PR01614. GABAARALPHA1.
    PR00253. GABAARECEPTR.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsiTIGR00860. LIC. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P14867-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL    50
    DGYDNRLRPG LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE 100
    RLKFKGPMTV LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRITE 150
    DGTLLYTMRL TVRAECPMHL EDFPMDAHAC PLKFGSYAYT RAEVVYEWTR 200
    EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM TTHFHLKRKI 250
    GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 300
    RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV 350
    PEKPKKVKDP LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV 400
    KPETKPPEPK KTFNSVSKID RLSRIAFPLL FGIFNLVYWA TYLNREPQLK 450
    APTPHQ 456
    Length:456
    Mass (Da):51,802
    Last modified:January 17, 2003 - v3
    Checksum:iF81EC9ECBE64E94D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti122 – 1221W → R in CAA32874. (PubMed:2465923)Curated
    Sequence conflicti128 – 14013Missing in CAA31925. (PubMed:2847710)CuratedAdd
    BLAST
    Sequence conflicti204 – 2041R → H in CAA31925. (PubMed:2847710)Curated
    Sequence conflicti315 – 3151W → WDW in CAA31925. (PubMed:2847710)Curated
    Sequence conflicti362 – 3654IKKN → FPNS in CAA31925. (PubMed:2847710)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti322 – 3221A → D in EJM5. 1 Publication
    VAR_013642

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14766 mRNA. Translation: CAA32874.1.
    CH471062 Genomic DNA. Translation: EAW61538.1.
    CH471062 Genomic DNA. Translation: EAW61539.1.
    BC030696 mRNA. Translation: AAH30696.1.
    X13584 mRNA. Translation: CAA31925.1.
    CCDSiCCDS4357.1.
    PIRiA31588.
    A60652.
    RefSeqiNP_000797.2. NM_000806.5.
    NP_001121115.1. NM_001127643.1.
    NP_001121116.1. NM_001127644.1.
    NP_001121117.1. NM_001127645.1.
    NP_001121120.1. NM_001127648.1.
    UniGeneiHs.175934.

    Genome annotation databases

    EnsembliENST00000023897; ENSP00000023897; ENSG00000022355.
    ENST00000393943; ENSP00000377517; ENSG00000022355.
    ENST00000428797; ENSP00000393097; ENSG00000022355.
    ENST00000437025; ENSP00000415441; ENSG00000022355.
    GeneIDi2554.
    KEGGihsa:2554.
    UCSCiuc003lyx.4. human.

    Polymorphism databases

    DMDMi27808653.

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Forbidden fruit - Issue 56 of March 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14766 mRNA. Translation: CAA32874.1 .
    CH471062 Genomic DNA. Translation: EAW61538.1 .
    CH471062 Genomic DNA. Translation: EAW61539.1 .
    BC030696 mRNA. Translation: AAH30696.1 .
    X13584 mRNA. Translation: CAA31925.1 .
    CCDSi CCDS4357.1.
    PIRi A31588.
    A60652.
    RefSeqi NP_000797.2. NM_000806.5.
    NP_001121115.1. NM_001127643.1.
    NP_001121116.1. NM_001127644.1.
    NP_001121117.1. NM_001127645.1.
    NP_001121120.1. NM_001127648.1.
    UniGenei Hs.175934.

    3D structure databases

    ProteinModelPortali P14867.
    SMRi P14867. Positions 43-341.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108828. 3 interactions.
    IntActi P14867. 1 interaction.
    STRINGi 9606.ENSP00000023897.

    Chemistry

    BindingDBi P14867.
    ChEMBLi CHEMBL1962.
    DrugBanki DB00659. Acamprosate.
    DB00546. Adinazolam.
    DB00404. Alprazolam.
    DB01351. Amobarbital.
    DB00543. Amoxapine.
    DB01352. Aprobarbital.
    DB01558. Bromazepam.
    DB00237. Butabarbital.
    DB00241. Butalbital.
    DB01353. Butethal.
    DB00475. Chlordiazepoxide.
    DB01594. Cinolazepam.
    DB00349. Clobazam.
    DB01068. Clonazepam.
    DB00628. Clorazepate.
    DB01559. Clotiazepam.
    DB01189. Desflurane.
    DB00829. Diazepam.
    DB00228. Enflurane.
    DB01049. Ergoloid mesylate.
    DB01215. Estazolam.
    DB00402. Eszopiclone.
    DB00898. Ethanol.
    DB00189. Ethchlorvynol.
    DB00292. Etomidate.
    DB01567. Fludiazepam.
    DB01205. Flumazenil.
    DB00690. Flurazepam.
    DB01381. Ginkgo biloba.
    DB01437. Glutethimide.
    DB00801. Halazepam.
    DB01159. Halothane.
    DB01354. Heptabarbital.
    DB01355. Hexobarbital.
    DB00753. Isoflurane.
    DB01587. Ketazolam.
    DB00186. Lorazepam.
    DB00371. Meprobamate.
    DB00474. Methohexital.
    DB01028. Methoxyflurane.
    DB00849. Methylphenobarbital.
    DB01107. Methyprylon.
    DB00683. Midazolam.
    DB01595. Nitrazepam.
    DB00334. Olanzapine.
    DB00842. Oxazepam.
    DB00312. Pentobarbital.
    DB01174. Phenobarbital.
    DB01588. Prazepam.
    DB00794. Primidone.
    DB00837. Progabide.
    DB00818. Propofol.
    DB01589. Quazepam.
    DB01346. Quinidine barbiturate.
    DB00418. Secobarbital.
    DB01236. Sevoflurane.
    DB00306. Talbutal.
    DB00231. Temazepam.
    DB01154. Thiamylal.
    DB00599. Thiopental.
    DB00273. Topiramate.
    DB00897. Triazolam.
    DB00962. Zaleplon.
    DB00425. Zolpidem.
    DB01198. Zopiclone.
    GuidetoPHARMACOLOGYi 404.

    PTM databases

    PhosphoSitei P14867.

    Polymorphism databases

    DMDMi 27808653.

    Proteomic databases

    PaxDbi P14867.
    PRIDEi P14867.

    Protocols and materials databases

    DNASUi 2554.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000023897 ; ENSP00000023897 ; ENSG00000022355 .
    ENST00000393943 ; ENSP00000377517 ; ENSG00000022355 .
    ENST00000428797 ; ENSP00000393097 ; ENSG00000022355 .
    ENST00000437025 ; ENSP00000415441 ; ENSG00000022355 .
    GeneIDi 2554.
    KEGGi hsa:2554.
    UCSCi uc003lyx.4. human.

    Organism-specific databases

    CTDi 2554.
    GeneCardsi GC05P161206.
    HGNCi HGNC:4075. GABRA1.
    HPAi CAB022502.
    HPA055746.
    MIMi 137160. gene.
    611136. phenotype.
    neXtProti NX_P14867.
    Orphaneti 64280. Childhood absence epilepsy.
    307. Juvenile myoclonic epilepsy.
    PharmGKBi PA28489.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238757.
    HOGENOMi HOG000231337.
    HOVERGENi HBG051707.
    InParanoidi P14867.
    KOi K05175.
    OMAi APNIARD.
    OrthoDBi EOG7JX342.
    PhylomeDBi P14867.
    TreeFami TF315453.

    Enzyme and pathway databases

    Reactomei REACT_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Miscellaneous databases

    GeneWikii Gamma-aminobutyric_acid_(GABA)_A_receptor,_alpha_1.
    Gamma-aminobutyric_acid_receptor_subunit_alpha-1.
    GenomeRNAii 2554.
    NextBioi 10087.
    PROi P14867.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14867.
    Bgeei P14867.
    CleanExi HS_GABRA1.
    Genevestigatori P14867.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR001390. GABAAa_rcpt.
    IPR005431. GABBAa1_rcpt.
    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 PR01079. GABAARALPHA.
    PR01614. GABAARALPHA1.
    PR00253. GABAARECEPTR.
    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. "Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits."
      Schofield P.R., Pritchett D.B., Sontheimer H., Kettenmann H., Seeburg P.H.
      FEBS Lett. 244:361-364(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Brain.
    4. "Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor."
      Garrett K.M., Duman R.S., Saito N., Blume A.J., Vitek M.P., Tallman J.F.
      Biochem. Biophys. Res. Commun. 156:1039-1045(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-365.
      Tissue: Cerebellum.
    5. Cited for: VARIANT EJM5 ASP-322.
    6. "A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy."
      Maljevic S., Krampfl K., Cobilanschi J., Tilgen N., Beyer S., Weber Y.G., Schlesinger F., Ursu D., Melzer W., Cossette P., Bufler J., Lerche H., Heils A.
      Ann. Neurol. 59:983-987(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ECA4.

    Entry informationi

    Entry nameiGBRA1_HUMAN
    AccessioniPrimary (citable) accession number: P14867
    Secondary accession number(s): D3DQK6, Q8N629
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: January 17, 2003
    Last modified: October 1, 2014
    This is version 163 of the entry and version 3 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

    Keywords - Technical termi

    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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3