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O14764

- GBRD_HUMAN

UniProt

O14764 - GBRD_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit delta

Gene

GABRD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

    GO - Molecular functioni

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

    GO - Biological processi

    1. signal transduction Source: ProtInc
    2. synaptic transmission Source: Ensembl
    3. transport Source: ProtInc

    Keywords - Molecular functioni

    Chloride channel, Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Names & Taxonomyi

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

    Organism-specific databases

    HGNCiHGNC:4084. GABRD.

    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: ProtInc
    4. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti177 – 1771E → A in GEFS+5; reduced receptor current amplitudes. 1 Publication
    VAR_043151
    Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti220 – 2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. 2 Publications
    Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
    VAR_043153
    Juvenile myoclonic epilepsy 7 (EJM7) [MIM:613060]: 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.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti220 – 2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. 2 Publications
    Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
    VAR_043153

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi613060. phenotype.
    Orphaneti1606. 1p36 deletion syndrome.
    36387. Generalized epilepsy with febrile seizures-plus context.
    307. Juvenile myoclonic epilepsy.
    PharmGKBiPA28498.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Chaini17 – 452436Gamma-aminobutyric acid receptor subunit deltaPRO_0000000468Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi103 – 1031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi164 ↔ 178By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiO14764.
    PRIDEiO14764.

    PTM databases

    PhosphoSiteiO14764.

    Expressioni

    Gene expression databases

    BgeeiO14764.
    CleanExiHS_GABRD.
    GenevestigatoriO14764.

    Organism-specific databases

    HPAiHPA044371.

    Interactioni

    Subunit structurei

    Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

    Protein-protein interaction databases

    BioGridi108837. 3 interactions.
    IntActiO14764. 2 interactions.
    MINTiMINT-1461496.
    STRINGi9606.ENSP00000367848.

    Structurei

    3D structure databases

    ProteinModelPortaliO14764.
    SMRiO14764. Positions 49-339.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini17 – 248232ExtracellularCuratedAdd
    BLAST
    Topological domaini332 – 42998CytoplasmicCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei249 – 27123HelicalCuratedAdd
    BLAST
    Transmembranei275 – 29723HelicalCuratedAdd
    BLAST
    Transmembranei309 – 33123HelicalCuratedAdd
    BLAST
    Transmembranei430 – 45223HelicalCuratedAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG308574.
    HOGENOMiHOG000231335.
    HOVERGENiHBG051707.
    InParanoidiO14764.
    KOiK05184.
    OMAiEYTMTVF.
    OrthoDBiEOG712TVZ.
    PhylomeDBiO14764.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR008098. GABAAd_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. 1 hit.
    [Graphical view]
    PRINTSiPR01722. GABAARDELTA.
    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.

    O14764-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG    50
    YARNFRPGIG GPPVNVALAL EVASIDHISE ANMEYTMTVF LHQSWRDSRL 100
    SYNHTNETLG LDSRFVDKLW LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG 150
    VILYSIRITS TVACDMDLAK YPMDEQECML DLESYGYSSE DIVYYWSESQ 200
    EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH FHLRRNRGVY 250
    IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS 300
    LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP 350
    RAEMDVRNAI VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE 400
    TKKEGAARSG GQGGIRARLR PIDADTIDIY ARAVFPAAFA AVNVIYWAAY 450
    AM 452
    Length:452
    Mass (Da):50,708
    Last modified:February 15, 2005 - v2
    Checksum:i682501DE93144CE4
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti177 – 1771E → A in GEFS+5; reduced receptor current amplitudes. 1 Publication
    VAR_043151
    Natural varianti220 – 2201R → C in a GEFS+ family; does not affect receptor current amplitudes; unknown pathological significance. 1 Publication
    Corresponds to variant rs139300921 [ dbSNP | Ensembl ].
    VAR_043152
    Natural varianti220 – 2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. 2 Publications
    Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
    VAR_043153

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF016917 mRNA. Translation: AAB70007.1.
    AL391845 Genomic DNA. Translation: CAI15436.1.
    BC033801 mRNA. Translation: AAH33801.1.
    CCDSiCCDS36.1.
    RefSeqiNP_000806.2. NM_000815.4.
    UniGeneiHs.113882.

    Genome annotation databases

    EnsembliENST00000378585; ENSP00000367848; ENSG00000187730.
    GeneIDi2563.
    KEGGihsa:2563.
    UCSCiuc001aip.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF016917 mRNA. Translation: AAB70007.1 .
    AL391845 Genomic DNA. Translation: CAI15436.1 .
    BC033801 mRNA. Translation: AAH33801.1 .
    CCDSi CCDS36.1.
    RefSeqi NP_000806.2. NM_000815.4.
    UniGenei Hs.113882.

    3D structure databases

    ProteinModelPortali O14764.
    SMRi O14764. Positions 49-339.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108837. 3 interactions.
    IntActi O14764. 2 interactions.
    MINTi MINT-1461496.
    STRINGi 9606.ENSP00000367848.

    Chemistry

    BindingDBi O14764.
    ChEMBLi CHEMBL3591.
    DrugBanki DB00659. Acamprosate.
    DB00546. Adinazolam.
    DB00404. Alprazolam.
    DB00543. Amoxapine.
    DB01558. Bromazepam.
    DB00237. Butabarbital.
    DB00241. Butalbital.
    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.
    DB00189. Ethchlorvynol.
    DB00292. Etomidate.
    DB01567. Fludiazepam.
    DB01205. Flumazenil.
    DB00690. Flurazepam.
    DB01437. Glutethimide.
    DB00801. Halazepam.
    DB01159. Halothane.
    DB00753. Isoflurane.
    DB01587. Ketazolam.
    DB00186. Lorazepam.
    DB00371. Meprobamate.
    DB01028. Methoxyflurane.
    DB01107. Methyprylon.
    DB00683. Midazolam.
    DB01595. Nitrazepam.
    DB00334. Olanzapine.
    DB00842. Oxazepam.
    DB00312. Pentobarbital.
    DB01588. Prazepam.
    DB00794. Primidone.
    DB00818. Propofol.
    DB01589. Quazepam.
    DB01236. Sevoflurane.
    DB00306. Talbutal.
    DB00231. Temazepam.
    DB00273. Topiramate.
    DB00897. Triazolam.
    GuidetoPHARMACOLOGYi 416.

    PTM databases

    PhosphoSitei O14764.

    Proteomic databases

    PaxDbi O14764.
    PRIDEi O14764.

    Protocols and materials databases

    DNASUi 2563.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378585 ; ENSP00000367848 ; ENSG00000187730 .
    GeneIDi 2563.
    KEGGi hsa:2563.
    UCSCi uc001aip.2. human.

    Organism-specific databases

    CTDi 2563.
    GeneCardsi GC01P001950.
    HGNCi HGNC:4084. GABRD.
    HPAi HPA044371.
    MIMi 137163. gene.
    613060. phenotype.
    neXtProti NX_O14764.
    Orphaneti 1606. 1p36 deletion syndrome.
    36387. Generalized epilepsy with febrile seizures-plus context.
    307. Juvenile myoclonic epilepsy.
    PharmGKBi PA28498.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308574.
    HOGENOMi HOG000231335.
    HOVERGENi HBG051707.
    InParanoidi O14764.
    KOi K05184.
    OMAi EYTMTVF.
    OrthoDBi EOG712TVZ.
    PhylomeDBi O14764.
    TreeFami TF315453.

    Miscellaneous databases

    GeneWikii GABRD.
    GenomeRNAii 2563.
    NextBioi 10127.
    PROi O14764.
    SOURCEi Search...

    Gene expression databases

    Bgeei O14764.
    CleanExi HS_GABRD.
    Genevestigatori O14764.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR008098. GABAAd_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. 1 hit.
    [Graphical view ]
    PRINTSi PR01722. GABAARDELTA.
    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. Day T.M., Hartnett C., Blankenbiller K., Ramabhadran T.V.
      Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-220.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      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. "GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies."
      Dibbens L.M., Feng H.-J., Richards M.C., Harkin L.A., Hodgson B.L., Scott D., Jenkins M., Petrou S., Sutherland G.R., Scheffer I.E., Berkovic S.F., Macdonald R.L., Mulley J.C.
      Hum. Mol. Genet. 13:1315-1319(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GEFS+5 ALA-177, VARIANTS CYS-220 AND HIS-220, CHARACTERIZATION OF VARIANT GEFS+5 ALA-177, CHARACTERIZATION OF VARIANTS CYS-220 AND HIS-220.

    Entry informationi

    Entry nameiGBRD_HUMAN
    AccessioniPrimary (citable) accession number: O14764
    Secondary accession number(s): Q8N4N9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 139 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3