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P28472

- GBRB3_HUMAN

UniProt

P28472 - GBRB3_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit beta-3

Gene

GABRB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 1 (01 Dec 1992)
      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.5 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei225 – 2251Agonist

    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: UniProtKB
    4. GABA-gated chloride ion channel activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to histamine Source: UniProtKB
    2. chloride transmembrane transport Source: UniProtKB
    3. cochlea development Source: Ensembl
    4. inner ear receptor cell development Source: Ensembl
    5. innervation Source: Ensembl
    6. ion transmembrane transport Source: Reactome
    7. negative regulation of neuron apoptotic process Source: Ensembl
    8. palate development Source: UniProtKB
    9. sensory perception of sound Source: Ensembl
    10. signal transduction Source: ProtInc
    11. synaptic transmission Source: Reactome
    12. transmembrane transport Source: Reactome
    13. 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.
    SignaLinkiP28472.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-3
    Alternative name(s):
    GABA(A) receptor subunit beta-3
    Gene namesi
    Name:GABRB3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:4083. GABRB3.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. chloride channel complex Source: UniProtKB-KW
    3. GABA-A receptor complex Source: UniProtKB
    4. integral component of plasma membrane Source: UniProtKB
    5. plasma membrane Source: Reactome
    6. 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 5 (ECA5) [MIM:612269]: 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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication
    VAR_047957
    Isoform 2 (identifier: P28472-2)
    Natural varianti11 – 111P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication
    Corresponds to variant rs25409 [ dbSNP | Ensembl ].
    Natural varianti15 – 151S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi137192. gene+phenotype.
    612269. phenotype.
    Orphaneti106. Autism.
    64280. Childhood absence epilepsy.
    PharmGKBiPA28497.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 473448Gamma-aminobutyric acid receptor subunit beta-3PRO_0000000462Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi33 – 331N-linked (GlcNAc...)1 Publication
    Glycosylationi105 – 1051N-linked (GlcNAc...)1 Publication
    Disulfide bondi161 ↔ 1751 Publication
    Glycosylationi174 – 1741N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP28472.
    PaxDbiP28472.
    PRIDEiP28472.

    PTM databases

    PhosphoSiteiP28472.

    Expressioni

    Gene expression databases

    ArrayExpressiP28472.
    BgeeiP28472.
    CleanExiHS_GABRB3.
    GenevestigatoriP28472.

    Interactioni

    Subunit structurei

    Binds UBQLN1 By similarity. Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Can form functional homopentamers (in vitro).By similarity5 Publications

    Protein-protein interaction databases

    BioGridi108836. 5 interactions.
    IntActiP28472. 1 interaction.
    STRINGi9606.ENSP00000299267.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4COFX-ray2.97A/B/C/D/E26-332[»]
    A/B/C/D/E447-473[»]
    ProteinModelPortaliP28472.
    SMRiP28472. Positions 47-346.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 245220Extracellular1 PublicationAdd
    BLAST
    Topological domaini268 – 2703Cytoplasmic1 Publication
    Topological domaini294 – 30411Extracellular1 PublicationAdd
    BLAST
    Topological domaini328 – 450123Cytoplasmic1 PublicationAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei246 – 26722HelicalAdd
    BLAST
    Transmembranei271 – 29323HelicalAdd
    BLAST
    Transmembranei305 – 32723HelicalAdd
    BLAST
    Transmembranei451 – 47222HelicalAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni120 – 1223Agonist binding
    Regioni180 – 1823Agonist binding
    Regioni290 – 31122Allosteric effector bindingAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG77438.
    HOVERGENiHBG051707.
    KOiK05181.
    OrthoDBiEOG712TVZ.
    PhylomeDBiP28472.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR002289. GABAAb_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]
    PRINTSiPR01160. GABAARBETA.
    PR00253. GABAARECEPTR.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsiTIGR00860. LIC. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: Isoforms differ in their signal region.

    Isoform 1 (identifier: P28472-1) [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

    MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI    50
    RLRPDFGGPP VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS 100
    GIPLNLTLDN RVADQLWVPD TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL 150
    YGLRITTTAA CMMDLRRYPL DEQNCTLEIE SYGYTTDDIE FYWRGGDKAV 200
    TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK RNIGYFILQT 250
    YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 300
    PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK 350
    NDRSKSESNR VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI 400
    QYRKQSMPRE GHGRFLGDRS LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR 450
    WSRIVFPFTF SLFNLVYWLY YVN 473
    Length:473
    Mass (Da):54,116
    Last modified:December 1, 1992 - v1
    Checksum:iD63597F7FBC69E71
    GO
    Isoform 2 (identifier: P28472-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-26: MWGLAGGRLFGIFSAPVLVAVVCCAQ → MCSGLLELLLPIWLSWTLGTRGSEPR

    Show »
    Length:473
    Mass (Da):54,379
    Checksum:i3A7F9A0EB3537D5E
    GO
    Isoform 3 (identifier: P28472-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3-80: GLAGGRLFGI...SIDMVSEVNM → ATYQTEE

    Note: No experimental confirmation available.

    Show »
    Length:402
    Mass (Da):46,740
    Checksum:i5B5BB0E56D41435A
    GO
    Isoform 4 (identifier: P28472-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-85: Missing.

    Show »
    Length:388
    Mass (Da):45,006
    Checksum:i6646C270C24396F2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti97 – 971L → H in BAH13811. (PubMed:14702039)Curated
    Sequence conflicti193 – 1931W → R in BAH11997. (PubMed:14702039)Curated

    Polymorphismi

    GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIMi:137192].

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication
    VAR_047957
    Natural varianti173 – 1731Q → L.1 Publication
    Corresponds to variant rs17850679 [ dbSNP | Ensembl ].
    VAR_047958
    Natural varianti217 – 2171R → H Found in a subject suffering from insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors; current deactivation is faster in the mutated receptors. 1 Publication
    VAR_047959
    Isoform 2 (identifier: P28472-2)
    Natural varianti11 – 111P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication
    Corresponds to variant rs25409 [ dbSNP | Ensembl ].
    Natural varianti15 – 151S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8585Missing in isoform 4. 1 PublicationVSP_046676Add
    BLAST
    Alternative sequencei1 – 2626MWGLA…VCCAQ → MCSGLLELLLPIWLSWTLGT RGSEPR in isoform 2. CuratedVSP_000088Add
    BLAST
    Alternative sequencei3 – 8078GLAGG…SEVNM → ATYQTEE in isoform 3. 1 PublicationVSP_046126Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M82919 mRNA. Translation: AAA52511.1.
    AK295167 mRNA. Translation: BAH11997.1.
    AK302822 mRNA. Translation: BAH13811.1.
    AC009878 Genomic DNA. No translation available.
    AC011196 Genomic DNA. No translation available.
    AC104569 Genomic DNA. No translation available.
    AC127511 Genomic DNA. No translation available.
    AC135999 Genomic DNA. No translation available.
    AC145167 Genomic DNA. No translation available.
    AC145196 Genomic DNA. No translation available.
    EU606048 Genomic DNA. No translation available.
    CH471151 Genomic DNA. Translation: EAW57655.1.
    BC010641 mRNA. Translation: AAH10641.1.
    L04311 Genomic DNA. Translation: AAA52508.1.
    L04311 Genomic DNA. Translation: AAA52507.1.
    CCDSiCCDS10018.1. [P28472-2]
    CCDS10019.1. [P28472-1]
    CCDS53920.1. [P28472-4]
    CCDS53921.1. [P28472-3]
    PIRiA55275.
    B45468.
    RefSeqiNP_000805.1. NM_000814.5. [P28472-1]
    NP_001178249.1. NM_001191320.1. [P28472-4]
    NP_001178250.1. NM_001191321.2. [P28472-3]
    NP_001265560.1. NM_001278631.1. [P28472-4]
    NP_068712.1. NM_021912.4. [P28472-2]
    UniGeneiHs.302352.
    Hs.727263.

    Genome annotation databases

    EnsembliENST00000299267; ENSP00000299267; ENSG00000166206. [P28472-2]
    ENST00000311550; ENSP00000308725; ENSG00000166206. [P28472-1]
    ENST00000400188; ENSP00000383049; ENSG00000166206. [P28472-3]
    ENST00000545868; ENSP00000439169; ENSG00000166206. [P28472-4]
    GeneIDi2562.
    KEGGihsa:2562.
    UCSCiuc001zaz.3. human. [P28472-1]
    uc001zba.3. human. [P28472-2]
    uc021sgg.1. human.

    Polymorphism databases

    DMDMi120773.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Forbidden fruit - Issue 56 of March 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M82919 mRNA. Translation: AAA52511.1 .
    AK295167 mRNA. Translation: BAH11997.1 .
    AK302822 mRNA. Translation: BAH13811.1 .
    AC009878 Genomic DNA. No translation available.
    AC011196 Genomic DNA. No translation available.
    AC104569 Genomic DNA. No translation available.
    AC127511 Genomic DNA. No translation available.
    AC135999 Genomic DNA. No translation available.
    AC145167 Genomic DNA. No translation available.
    AC145196 Genomic DNA. No translation available.
    EU606048 Genomic DNA. No translation available.
    CH471151 Genomic DNA. Translation: EAW57655.1 .
    BC010641 mRNA. Translation: AAH10641.1 .
    L04311 Genomic DNA. Translation: AAA52508.1 .
    L04311 Genomic DNA. Translation: AAA52507.1 .
    CCDSi CCDS10018.1. [P28472-2 ]
    CCDS10019.1. [P28472-1 ]
    CCDS53920.1. [P28472-4 ]
    CCDS53921.1. [P28472-3 ]
    PIRi A55275.
    B45468.
    RefSeqi NP_000805.1. NM_000814.5. [P28472-1 ]
    NP_001178249.1. NM_001191320.1. [P28472-4 ]
    NP_001178250.1. NM_001191321.2. [P28472-3 ]
    NP_001265560.1. NM_001278631.1. [P28472-4 ]
    NP_068712.1. NM_021912.4. [P28472-2 ]
    UniGenei Hs.302352.
    Hs.727263.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4COF X-ray 2.97 A/B/C/D/E 26-332 [» ]
    A/B/C/D/E 447-473 [» ]
    ProteinModelPortali P28472.
    SMRi P28472. Positions 47-346.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108836. 5 interactions.
    IntActi P28472. 1 interaction.
    STRINGi 9606.ENSP00000299267.

    Chemistry

    BindingDBi P28472.
    ChEMBLi CHEMBL2094121.
    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.
    DB06716. Fospropofol.
    DB01437. Glutethimide.
    DB00801. Halazepam.
    DB01159. Halothane.
    DB00753. Isoflurane.
    DB00602. Ivermectin.
    DB00186. Lorazepam.
    DB00371. Meprobamate.
    DB01028. Methoxyflurane.
    DB01107. Methyprylon.
    DB00683. Midazolam.
    DB01595. Nitrazepam.
    DB00334. Olanzapine.
    DB00842. Oxazepam.
    DB00312. Pentobarbital.
    DB00592. Piperazine.
    DB01588. Prazepam.
    DB00794. Primidone.
    DB00818. Propofol.
    DB01589. Quazepam.
    DB01236. Sevoflurane.
    DB00306. Talbutal.
    DB00231. Temazepam.
    DB00273. Topiramate.
    DB00897. Triazolam.
    GuidetoPHARMACOLOGYi 412.

    PTM databases

    PhosphoSitei P28472.

    Polymorphism databases

    DMDMi 120773.

    Proteomic databases

    MaxQBi P28472.
    PaxDbi P28472.
    PRIDEi P28472.

    Protocols and materials databases

    DNASUi 2562.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299267 ; ENSP00000299267 ; ENSG00000166206 . [P28472-2 ]
    ENST00000311550 ; ENSP00000308725 ; ENSG00000166206 . [P28472-1 ]
    ENST00000400188 ; ENSP00000383049 ; ENSG00000166206 . [P28472-3 ]
    ENST00000545868 ; ENSP00000439169 ; ENSG00000166206 . [P28472-4 ]
    GeneIDi 2562.
    KEGGi hsa:2562.
    UCSCi uc001zaz.3. human. [P28472-1 ]
    uc001zba.3. human. [P28472-2 ]
    uc021sgg.1. human.

    Organism-specific databases

    CTDi 2562.
    GeneCardsi GC15M026788.
    GeneReviewsi GABRB3.
    HGNCi HGNC:4083. GABRB3.
    MIMi 137192. gene+phenotype.
    612269. phenotype.
    neXtProti NX_P28472.
    Orphaneti 106. Autism.
    64280. Childhood absence epilepsy.
    PharmGKBi PA28497.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG77438.
    HOVERGENi HBG051707.
    KOi K05181.
    OrthoDBi EOG712TVZ.
    PhylomeDBi P28472.
    TreeFami TF315453.

    Enzyme and pathway databases

    Reactomei REACT_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.
    SignaLinki P28472.

    Miscellaneous databases

    ChiTaRSi GABRB3. human.
    GeneWikii GABRB3.
    GenomeRNAii 2562.
    NextBioi 10121.
    PROi P28472.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P28472.
    Bgeei P28472.
    CleanExi HS_GABRB3.
    Genevestigatori P28472.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR002289. GABAAb_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 PR01160. GABAARBETA.
    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. "The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7."
      Wagstaff J., Chaillet J.R., Lalande M.
      Genomics 11:1071-1078(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] (ISOFORMS 3 AND 4).
      Tissue: Brain and Testis.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1), VARIANT LEU-173.
      Tissue: Eye.
    6. "A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3)."
      Kirkness E.F., Fraser C.M.
      J. Biol. Chem. 268:4420-4428(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-80 (ISOFORMS 1 AND 2).
      Tissue: Fibroblast.
    7. "Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15."
      Wagstaff J., Knoll J.H.M., Fleming J., Kirkness E.F., Martin-Gallardo A., Greenberg F., Graham J.M. Jr., Menninger J., Ward D., Venter J.C., Lalande M.
      Am. J. Hum. Genet. 49:330-337(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 81-153 AND 183-227.
    8. "Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses."
      Saras A., Gisselmann G., Vogt-Eisele A.K., Erlkamp K.S., Kletke O., Pusch H., Hatt H.
      J. Biol. Chem. 283:10470-10475(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
    9. "Mapping general anesthetic binding site(s) in human alpha1beta3 gamma-aminobutyric acid type A receptors with [^3H]TDBzl-etomidate, a photoreactive etomidate analogue."
      Chiara D.C., Dostalova Z., Jayakar S.S., Zhou X., Miller K.W., Cohen J.B.
      Biochemistry 51:836-847(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, PARTIAL PROTEIN SEQUENCE.
    10. "Crystal structure of a human GABAA receptor."
      Miller P.S., Aricescu A.R.
      Nature 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.97 ANGSTROMS) OF 26-473 IN COMPLEX WITH THE AGONIST BENZAMIDINE, FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, SUBUNIT, GLYCOSYLATION AT ASN-33; ASN-105 AND ASN-174, DISULFIDE BOND.
    11. "Functional characterization of the new human GABA(A) receptor mutation beta3(R192H)."
      Buhr A., Bianchi M.T., Baur R., Courtet P., Pignay V., Boulenger J.P., Gallati S., Hinkle D.J., Macdonald R.L., Sigel E.
      Hum. Genet. 111:154-160(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HIS-217, CHARACTERIZATION OF VARIANT HIS-217.
    12. Cited for: VARIANT ECA5 ARG-32, CHARACTERIZATION OF VARIANT ECA5 ARG-32, VARIANTS ECA5 SER-11 AND PHE-15 (ISOFORM 2), CHARACTERIZATION OF VARIANTS ECA5 SER-11 AND PHE-15 (ISOFORM 2), FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
    13. "GABRB3 mutation, G32R, associated with childhood absence epilepsy alters alpha1beta3gamma2L gamma-aminobutyric acid type A (GABAA) receptor expression and channel gating."
      Gurba K.N., Hernandez C.C., Hu N., Macdonald R.L.
      J. Biol. Chem. 287:12083-12097(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT ECA5 ARG-32, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.

    Entry informationi

    Entry nameiGBRB3_HUMAN
    AccessioniPrimary (citable) accession number: P28472
    Secondary accession number(s): B7Z2W1
    , B7Z825, F5H3D2, H7BYV8, Q14352, Q96FM5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 1992
    Last sequence update: December 1, 1992
    Last modified: October 1, 2014
    This is version 150 of the entry and version 1 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

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3