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P28472

- GBRB3_HUMAN

UniProt

P28472 - GBRB3_HUMAN

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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

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
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_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.
REACT_267716. Orphan transporters.
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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 245220Extracellular1 PublicationAdd
BLAST
Transmembranei246 – 26722HelicalAdd
BLAST
Topological domaini268 – 2703Cytoplasmic1 Publication
Transmembranei271 – 29323HelicalAdd
BLAST
Topological domaini294 – 30411Extracellular1 PublicationAdd
BLAST
Transmembranei305 – 32723HelicalAdd
BLAST
Topological domaini328 – 450123Cytoplasmic1 PublicationAdd
BLAST
Transmembranei451 – 47222HelicalAdd
BLAST

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-KW
Complete GO annotation...

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

BgeeiP28472.
CleanExiHS_GABRB3.
ExpressionAtlasiP28472. baseline and differential.
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. 7 interactions.
DIPiDIP-61029N.
IntActiP28472. 1 interaction.
STRINGi9606.ENSP00000299267.

Structurei

Secondary structure

1
473
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi34 – 4512Combined sources
Turni54 – 574Combined sources
Beta strandi61 – 7616Combined sources
Turni77 – 804Combined sources
Beta strandi81 – 9313Combined sources
Helixi95 – 973Combined sources
Beta strandi106 – 1083Combined sources
Helixi110 – 1156Combined sources
Beta strandi121 – 1233Combined sources
Beta strandi126 – 1316Combined sources
Beta strandi134 – 1363Combined sources
Beta strandi138 – 1436Combined sources
Beta strandi147 – 16014Combined sources
Turni166 – 1694Combined sources
Beta strandi172 – 18312Combined sources
Turni186 – 1883Combined sources
Beta strandi189 – 1935Combined sources
Helixi196 – 1983Combined sources
Beta strandi199 – 2013Combined sources
Helixi203 – 2053Combined sources
Beta strandi209 – 22517Combined sources
Beta strandi228 – 24114Combined sources
Helixi244 – 2496Combined sources
Helixi251 – 26212Combined sources
Helixi263 – 2664Combined sources
Helixi272 – 29524Combined sources
Helixi305 – 33026Combined sources
Helixi447 – 47125Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4COFX-ray2.97A/B/C/D/E26-332[»]
A/B/C/D/E447-473[»]
ProteinModelPortaliP28472.
SMRiP28472. Positions 26-473.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00760000118821.
HOVERGENiHBG051707.
InParanoidiP28472.
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

        10         20         30         40         50
MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI
60 70 80 90 100
RLRPDFGGPP VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS
110 120 130 140 150
GIPLNLTLDN RVADQLWVPD TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL
160 170 180 190 200
YGLRITTTAA CMMDLRRYPL DEQNCTLEIE SYGYTTDDIE FYWRGGDKAV
210 220 230 240 250
TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK RNIGYFILQT
260 270 280 290 300
YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI
310 320 330 340 350
PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK
360 370 380 390 400
NDRSKSESNR VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI
410 420 430 440 450
QYRKQSMPRE GHGRFLGDRS LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR
460 470
WSRIVFPFTF SLFNLVYWLY YVN
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:
EMBLi
GenBanki
DDBJi
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]
ENST00000622697; ENSP00000481004; 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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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 26-473.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108836. 7 interactions.
DIPi DIP-61029N.
IntActi P28472. 1 interaction.
STRINGi 9606.ENSP00000299267.

Chemistry

BindingDBi P28472.
ChEMBLi CHEMBL2109244.
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 ]
ENST00000622697 ; ENSP00000481004 ; 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.
GeneTreei ENSGT00760000118821.
HOVERGENi HBG051707.
InParanoidi P28472.
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.
REACT_267716. Orphan transporters.
SignaLinki P28472.

Miscellaneous databases

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

Gene expression databases

Bgeei P28472.
CleanExi HS_GABRB3.
ExpressionAtlasi P28472. baseline and differential.
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

« Hide 'large scale' publications
  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 512:270-275(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: November 26, 2014
This is version 152 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