UniProtKB - P28472 (GBRB3_HUMAN)
Gamma-aminobutyric acid receptor subunit beta-3
GABRB3
Functioni
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990).
Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750).
The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity).
The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750).
The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity).
Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286).
Plays an important role in somatosensation and in the production of antinociception (By similarity).
By similarity7 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 225 | Benzamidine; agonist1 Publication | 1 |
GO - Molecular functioni
- GABA-A receptor activity Source: UniProtKB
- GABA-gated chloride ion channel activity Source: GO_Central
- identical protein binding Source: IntAct
- neurotransmitter receptor activity Source: GO_Central
GO - Biological processi
- cellular response to histamine Source: UniProtKB
- chemical synaptic transmission Source: GO_Central
- chloride transmembrane transport Source: GO_Central
- gamma-aminobutyric acid signaling pathway Source: ComplexPortal
- inhibitory synapse assembly Source: UniProtKB
- ion transmembrane transport Source: GO_Central
- nervous system process Source: GO_Central
- regulation of membrane potential Source: GO_Central
- roof of mouth development Source: UniProtKB
- signal transduction Source: GO_Central
Keywordsi
Molecular function | Chloride channel, Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
PathwayCommonsi | P28472 |
Reactomei | R-HSA-1236394, Signaling by ERBB4 R-HSA-977443, GABA receptor activation |
SignaLinki | P28472 |
SIGNORi | P28472 |
Protein family/group databases
TCDBi | 1.A.9.5.4, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
Names & Taxonomyi
Protein namesi | Recommended name: Gamma-aminobutyric acid receptor subunit beta-3Alternative name(s): GABA(A) receptor subunit beta-3 |
Gene namesi | Name:GABRB3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4083, GABRB3 |
MIMi | 137192, gene+phenotype |
neXtProti | NX_P28472 |
VEuPathDBi | HostDB:ENSG00000166206 |
Subcellular locationi
Plasma membrane
- postsynaptic cell membrane ; Multi-pass membrane protein 1 Publication
- Cell membrane 6 Publications; Multi-pass membrane protein 1 Publication
Other locations
- Cytoplasmic vesicle membrane By similarity
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
- postsynaptic membrane Source: UniProtKB-SubCell
Other locations
- chloride channel complex Source: UniProtKB-KW
- cytoplasmic vesicle membrane Source: UniProtKB-SubCell
- GABA-A receptor complex Source: UniProtKB
- neuron projection Source: GO_Central
- synapse Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 26 – 245 | Extracellular1 PublicationAdd BLAST | 220 | |
Transmembranei | 246 – 267 | HelicalAdd BLAST | 22 | |
Topological domaini | 268 – 270 | Cytoplasmic1 Publication | 3 | |
Transmembranei | 271 – 293 | HelicalAdd BLAST | 23 | |
Topological domaini | 294 – 304 | Extracellular1 PublicationAdd BLAST | 11 | |
Transmembranei | 305 – 327 | HelicalAdd BLAST | 23 | |
Topological domaini | 328 – 450 | Cytoplasmic1 PublicationAdd BLAST | 123 | |
Transmembranei | 451 – 472 | HelicalAdd BLAST | 22 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Epilepsy, childhood absence 5 (ECA5)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_047957 | 32 | G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs71651682EnsemblClinVar. | 1 | ||
Isoform 2 (identifier: P28472-2) | |||||
Natural variantiVAR_082790 | 11 | P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs25409Ensembl. | 1 | ||
Natural variantiVAR_082791 | 15 | S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs121913126Ensembl. | 1 |
Developmental and epileptic encephalopathy 43 (DEE43)6 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077076 | 120 | D → N in DEE43; no effect on localization to the plasma membrane; decreased GABA-gated chloride ion channel activity; decreased single channel open probability. 3 PublicationsCorresponds to variant dbSNP:rs886037938EnsemblClinVar. | 1 | |
Natural variantiVAR_078223 | 124 | L → F in DEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519550EnsemblClinVar. | 1 | |
Natural variantiVAR_078619 | 138 | N → NH in DEE43. 1 Publication | 1 | |
Natural variantiVAR_077077 | 157 | T → M in DEE43; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_077078 | 182 | Y → F in DEE43. 1 PublicationCorresponds to variant dbSNP:rs886037939EnsemblClinVar. | 1 | |
Natural variantiVAR_077079 | 249 | Q → K in DEE43. 1 PublicationCorresponds to variant dbSNP:rs886037940EnsemblClinVar. | 1 | |
Natural variantiVAR_078224 | 254 | S → F in DEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519549EnsemblClinVar. | 1 | |
Natural variantiVAR_077080 | 256 | L → Q in DEE43. 1 Publication | 1 | |
Natural variantiVAR_078719 | 287 | T → I in DEE43. 1 Publication | 1 | |
Natural variantiVAR_077081 | 293 | L → H in DEE43; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_077082 | 305 | A → T in DEE43. 1 PublicationCorresponds to variant dbSNP:rs886037941EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 2562 |
GeneReviewsi | GABRB3 |
MalaCardsi | GABRB3 |
MIMi | 137192, gene+phenotype 612269, phenotype 617113, phenotype |
OpenTargetsi | ENSG00000166206 |
Orphaneti | 64280, Childhood absence epilepsy 2382, Lennox-Gastaut syndrome 106, NON RARE IN EUROPE: Autism |
PharmGKBi | PA28497 |
Miscellaneous databases
Pharosi | P28472, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1847 |
DrugBanki | DB00659, Acamprosate DB00546, Adinazolam DB00404, Alprazolam DB00543, Amoxapine DB11901, Apalutamide DB14719, Bentazepam DB12537, Benzodiazepine DB11859, Brexanolone DB01558, Bromazepam DB09017, Brotizolam DB00237, Butabarbital DB00241, Butalbital DB01489, Camazepam DB00475, Chlordiazepoxide DB14715, Cinazepam DB01594, Cinolazepam DB00349, Clobazam DB01068, Clonazepam DB00628, Clorazepic acid DB01559, Clotiazepam DB01553, Cloxazolam DB01511, Delorazepam DB01189, Desflurane DB00829, Diazepam DB13837, Doxefazepam DB00228, Enflurane DB01215, Estazolam DB00402, Eszopiclone DB00898, Ethanol DB00189, Ethchlorvynol DB01545, Ethyl loflazepate DB09166, Etizolam DB00292, Etomidate DB01567, Fludiazepam DB01205, Flumazenil DB01544, Flunitrazepam DB00690, Flurazepam DB06716, Fospropofol DB01437, Glutethimide DB00801, Halazepam DB01159, Halothane DB00753, Isoflurane DB00602, Ivermectin DB01587, Ketazolam DB00555, Lamotrigine DB00431, Lindane DB13643, Loprazolam DB00186, Lorazepam DB13872, Lormetazepam DB13437, Medazepam DB00603, Medroxyprogesterone acetate DB01043, Memantine DB00371, Meprobamate DB00463, Metharbital DB01028, Methoxyflurane DB01107, Methyprylon DB15489, Mexazolam DB00683, Midazolam DB12458, Muscimol DB01595, Nitrazepam DB14028, Nordazepam DB00842, Oxazepam DB14672, Oxazepam acetate DB00312, Pentobarbital DB00252, Phenytoin DB13335, Pinazepam DB00592, Piperazine DB01708, Prasterone DB01588, Prazepam DB00794, Primidone DB00818, Propofol DB01589, Quazepam DB12404, Remimazolam DB01236, Sevoflurane DB09118, Stiripentol DB00306, Talbutal DB01956, Taurine DB00231, Temazepam DB11582, Thiocolchicoside DB00897, Triazolam |
DrugCentrali | P28472 |
GuidetoPHARMACOLOGYi | 412 |
Genetic variation databases
BioMutai | GABRB3 |
DMDMi | 120773 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 25 | Sequence analysisAdd BLAST | 25 | |
ChainiPRO_0000000462 | 26 – 473 | Gamma-aminobutyric acid receptor subunit beta-3Add BLAST | 448 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 33 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 105 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 161 ↔ 175 | 1 Publication | ||
Glycosylationi | 174 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | P28472 |
MaxQBi | P28472 |
PaxDbi | P28472 |
PeptideAtlasi | P28472 |
PRIDEi | P28472 |
ProteomicsDBi | 26235 43749 54485 [P28472-1] 54486 [P28472-2] |
PTM databases
GlyGeni | P28472, 3 sites |
iPTMneti | P28472 |
PhosphoSitePlusi | P28472 |
Expressioni
Gene expression databases
Bgeei | ENSG00000166206, Expressed in pituitary gland and 177 other tissues |
ExpressionAtlasi | P28472, baseline and differential |
Genevisiblei | P28472, HS |
Organism-specific databases
HPAi | ENSG00000166206, Tissue enhanced (brain, retina) |
Interactioni
Subunit structurei
Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:22243422, PubMed:18281286, PubMed:18514161, PubMed:24909990). Can form functional homopentamers (in vitro) (PubMed:22303015).
Interacts with UBQLN1 (By similarity). May interact with KIF21B (By similarity).
Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity).
Interacts with LHFPL4 (By similarity).
Interacts with GIT1; this interaction is required for synaptic GABRB3 surface stability and inhibitory synapse strength (By similarity).
By similarity5 PublicationsBinary interactionsi
P28472
With | #Exp. | IntAct |
---|---|---|
itself | 5 | EBI-6258252,EBI-6258252 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 108836, 13 interactors |
ComplexPortali | CPX-2164, GABA-A receptor, alpha-6/beta-3/gamma-2 CPX-2166, GABA-A receptor, alpha-3/beta-3/gamma-2 CPX-2167, GABA-A receptor, alpha-1/beta-3/gamma-2 CPX-2168, GABA-A receptor, alpha-5/beta-3/gamma-2 CPX-2174, GABA-A receptor, alpha-2/beta-3/gamma-2 CPX-2951, GABA-A receptor, alpha-6/beta-3/delta CPX-2954, GABA-A receptor, alpha-4/beta-3/delta |
DIPi | DIP-61029N |
IntActi | P28472, 8 interactors |
STRINGi | 9606.ENSP00000308725 |
Chemistry databases
BindingDBi | P28472 |
Miscellaneous databases
RNActi | P28472, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P28472 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 120 – 122 | Benzamidine binding; agonist1 Publication | 3 | |
Regioni | 180 – 182 | Benzamidine binding; agonistCombined sources1 Publication | 3 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3643, Eukaryota |
GeneTreei | ENSGT00940000154713 |
HOGENOMi | CLU_010920_0_2_1 |
InParanoidi | P28472 |
OMAi | DRNIPHK |
PhylomeDBi | P28472 |
TreeFami | TF315453 |
Family and domain databases
Gene3Di | 1.20.58.390, 1 hit 2.70.170.10, 1 hit |
InterProi | View protein in InterPro IPR006028, GABAA/Glycine_rcpt IPR002289, GABAAb_rcpt IPR006202, Neur_chan_lig-bd IPR036734, Neur_chan_lig-bd_sf IPR006201, Neur_channel IPR036719, Neuro-gated_channel_TM_sf IPR038050, Neuro_actylchol_rec IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR01160, GABAARBETA PR00253, GABAARECEPTR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GU30 | A0A1B0GU30_HUMAN | Gamma-aminobutyric acid receptor su... | GABRB3 | 264 | Annotation score: | ||
F5H7N0 | F5H7N0_HUMAN | Gamma-aminobutyric acid receptor su... | GABRB3 | 529 | Annotation score: | ||
A0A1B0GVW3 | A0A1B0GVW3_HUMAN | Gamma-aminobutyric acid receptor su... | GABRB3 | 440 | Annotation score: | ||
G3V373 | G3V373_HUMAN | Gamma-aminobutyric acid receptor su... | GABRB3 | 105 | Annotation score: | ||
G3V4W7 | G3V4W7_HUMAN | Gamma-aminobutyric acid receptor su... | GABRB3 | 87 | Annotation score: | ||
H0YJU6 | H0YJU6_HUMAN | Gamma-aminobutyric acid receptor su... | GABRB3 | 44 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 97 | L → H in BAH13811 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 193 | W → R in BAH11997 (PubMed:14702039).Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_047957 | 32 | G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs71651682EnsemblClinVar. | 1 | ||
Natural variantiVAR_077076 | 120 | D → N in DEE43; no effect on localization to the plasma membrane; decreased GABA-gated chloride ion channel activity; decreased single channel open probability. 3 PublicationsCorresponds to variant dbSNP:rs886037938EnsemblClinVar. | 1 | ||
Natural variantiVAR_078223 | 124 | L → F in DEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519550EnsemblClinVar. | 1 | ||
Natural variantiVAR_078619 | 138 | N → NH in DEE43. 1 Publication | 1 | ||
Natural variantiVAR_077077 | 157 | T → M in DEE43; unknown pathological significance. 1 Publication | 1 | ||
Natural variantiVAR_047958 | 173 | Q → L1 PublicationCorresponds to variant dbSNP:rs17850679Ensembl. | 1 | ||
Natural variantiVAR_077078 | 182 | Y → F in DEE43. 1 PublicationCorresponds to variant dbSNP:rs886037939EnsemblClinVar. | 1 | ||
Natural variantiVAR_047959 | 217 | R → 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 PublicationCorresponds to variant dbSNP:rs121913125EnsemblClinVar. | 1 | ||
Natural variantiVAR_079429 | 232 | R → Q Found in patients with Dravet syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045045EnsemblClinVar. | 1 | ||
Natural variantiVAR_077079 | 249 | Q → K in DEE43. 1 PublicationCorresponds to variant dbSNP:rs886037940EnsemblClinVar. | 1 | ||
Natural variantiVAR_078224 | 254 | S → F in DEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519549EnsemblClinVar. | 1 | ||
Natural variantiVAR_077080 | 256 | L → Q in DEE43. 1 Publication | 1 | ||
Natural variantiVAR_078719 | 287 | T → I in DEE43. 1 Publication | 1 | ||
Natural variantiVAR_077081 | 293 | L → H in DEE43; unknown pathological significance. 1 Publication | 1 | ||
Natural variantiVAR_077082 | 305 | A → T in DEE43. 1 PublicationCorresponds to variant dbSNP:rs886037941EnsemblClinVar. | 1 | ||
Isoform 2 (identifier: P28472-2) | |||||
Natural variantiVAR_082790 | 11 | P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs25409Ensembl. | 1 | ||
Natural variantiVAR_082791 | 15 | S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs121913126Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046676 | 1 – 85 | Missing in isoform 4. 1 PublicationAdd BLAST | 85 | |
Alternative sequenceiVSP_000088 | 1 – 26 | MWGLA…VCCAQ → MCSGLLELLLPIWLSWTLGT RGSEPR in isoform 2. CuratedAdd BLAST | 26 | |
Alternative sequenceiVSP_046126 | 3 – 80 | GLAGG…SEVNM → ATYQTEE in isoform 3. 1 PublicationAdd BLAST | 78 |
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] |
Genome annotation databases
Ensembli | ENST00000299267; ENSP00000299267; ENSG00000166206 [P28472-2] ENST00000311550; ENSP00000308725; ENSG00000166206 ENST00000400188; ENSP00000383049; ENSG00000166206 [P28472-3] ENST00000545868; ENSP00000439169; ENSG00000166206 [P28472-4] ENST00000622697; ENSP00000481004; ENSG00000166206 [P28472-4] ENST00000628124; ENSP00000486819; ENSG00000166206 [P28472-4] ENST00000636466; ENSP00000489768; ENSG00000166206 [P28472-4] |
GeneIDi | 2562 |
KEGGi | hsa:2562 |
MANE-Selecti | ENST00000311550.10; ENSP00000308725.5; NM_000814.6; NP_000805.1 |
UCSCi | uc001zaz.5, human [P28472-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | ||||
5O8F | X-ray | 3.20 | A/B/C/D/E | 26-246 | [»] | |
5OJM | X-ray | 3.30 | A/B/C/D/E | 26-242 | [»] | |
6A96 | electron microscopy | 3.51 | B/C/D/E | 1-332 | [»] | |
6HUG | electron microscopy | 3.10 | B/E | 26-473 | [»] | |
6HUJ | electron microscopy | 3.04 | B/E | 26-473 | [»] | |
6HUK | electron microscopy | 3.69 | B/E | 26-473 | [»] | |
6HUO | electron microscopy | 3.26 | B/E | 26-473 | [»] | |
6HUP | electron microscopy | 3.58 | B/E | 26-473 | [»] | |
6I53 | electron microscopy | 3.20 | B/E | 26-473 | [»] | |
6QFA | electron microscopy | 2.49 | A/B/C/D/E | 26-332 | [»] | |
A/B/C/D/E | 447-473 | [»] | ||||
SMRi | P28472 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108836, 13 interactors |
ComplexPortali | CPX-2164, GABA-A receptor, alpha-6/beta-3/gamma-2 CPX-2166, GABA-A receptor, alpha-3/beta-3/gamma-2 CPX-2167, GABA-A receptor, alpha-1/beta-3/gamma-2 CPX-2168, GABA-A receptor, alpha-5/beta-3/gamma-2 CPX-2174, GABA-A receptor, alpha-2/beta-3/gamma-2 CPX-2951, GABA-A receptor, alpha-6/beta-3/delta CPX-2954, GABA-A receptor, alpha-4/beta-3/delta |
DIPi | DIP-61029N |
IntActi | P28472, 8 interactors |
STRINGi | 9606.ENSP00000308725 |
Chemistry databases
BindingDBi | P28472 |
ChEMBLi | CHEMBL1847 |
DrugBanki | DB00659, Acamprosate DB00546, Adinazolam DB00404, Alprazolam DB00543, Amoxapine DB11901, Apalutamide DB14719, Bentazepam DB12537, Benzodiazepine DB11859, Brexanolone DB01558, Bromazepam DB09017, Brotizolam DB00237, Butabarbital DB00241, Butalbital DB01489, Camazepam DB00475, Chlordiazepoxide DB14715, Cinazepam DB01594, Cinolazepam DB00349, Clobazam DB01068, Clonazepam DB00628, Clorazepic acid DB01559, Clotiazepam DB01553, Cloxazolam DB01511, Delorazepam DB01189, Desflurane DB00829, Diazepam DB13837, Doxefazepam DB00228, Enflurane DB01215, Estazolam DB00402, Eszopiclone DB00898, Ethanol DB00189, Ethchlorvynol DB01545, Ethyl loflazepate DB09166, Etizolam DB00292, Etomidate DB01567, Fludiazepam DB01205, Flumazenil DB01544, Flunitrazepam DB00690, Flurazepam DB06716, Fospropofol DB01437, Glutethimide DB00801, Halazepam DB01159, Halothane DB00753, Isoflurane DB00602, Ivermectin DB01587, Ketazolam DB00555, Lamotrigine DB00431, Lindane DB13643, Loprazolam DB00186, Lorazepam DB13872, Lormetazepam DB13437, Medazepam DB00603, Medroxyprogesterone acetate DB01043, Memantine DB00371, Meprobamate DB00463, Metharbital DB01028, Methoxyflurane DB01107, Methyprylon DB15489, Mexazolam DB00683, Midazolam DB12458, Muscimol DB01595, Nitrazepam DB14028, Nordazepam DB00842, Oxazepam DB14672, Oxazepam acetate DB00312, Pentobarbital DB00252, Phenytoin DB13335, Pinazepam DB00592, Piperazine DB01708, Prasterone DB01588, Prazepam DB00794, Primidone DB00818, Propofol DB01589, Quazepam DB12404, Remimazolam DB01236, Sevoflurane DB09118, Stiripentol DB00306, Talbutal DB01956, Taurine DB00231, Temazepam DB11582, Thiocolchicoside DB00897, Triazolam |
DrugCentrali | P28472 |
GuidetoPHARMACOLOGYi | 412 |
Protein family/group databases
TCDBi | 1.A.9.5.4, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
PTM databases
GlyGeni | P28472, 3 sites |
iPTMneti | P28472 |
PhosphoSitePlusi | P28472 |
Genetic variation databases
BioMutai | GABRB3 |
DMDMi | 120773 |
Proteomic databases
MassIVEi | P28472 |
MaxQBi | P28472 |
PaxDbi | P28472 |
PeptideAtlasi | P28472 |
PRIDEi | P28472 |
ProteomicsDBi | 26235 43749 54485 [P28472-1] 54486 [P28472-2] |
Protocols and materials databases
ABCDi | P28472, 3 sequenced antibodies |
Antibodypediai | 22323, 340 antibodies from 38 providers |
DNASUi | 2562 |
Genome annotation databases
Ensembli | ENST00000299267; ENSP00000299267; ENSG00000166206 [P28472-2] ENST00000311550; ENSP00000308725; ENSG00000166206 ENST00000400188; ENSP00000383049; ENSG00000166206 [P28472-3] ENST00000545868; ENSP00000439169; ENSG00000166206 [P28472-4] ENST00000622697; ENSP00000481004; ENSG00000166206 [P28472-4] ENST00000628124; ENSP00000486819; ENSG00000166206 [P28472-4] ENST00000636466; ENSP00000489768; ENSG00000166206 [P28472-4] |
GeneIDi | 2562 |
KEGGi | hsa:2562 |
MANE-Selecti | ENST00000311550.10; ENSP00000308725.5; NM_000814.6; NP_000805.1 |
UCSCi | uc001zaz.5, human [P28472-1] |
Organism-specific databases
CTDi | 2562 |
DisGeNETi | 2562 |
GeneCardsi | GABRB3 |
GeneReviewsi | GABRB3 |
HGNCi | HGNC:4083, GABRB3 |
HPAi | ENSG00000166206, Tissue enhanced (brain, retina) |
MalaCardsi | GABRB3 |
MIMi | 137192, gene+phenotype 612269, phenotype 617113, phenotype |
neXtProti | NX_P28472 |
OpenTargetsi | ENSG00000166206 |
Orphaneti | 64280, Childhood absence epilepsy 2382, Lennox-Gastaut syndrome 106, NON RARE IN EUROPE: Autism |
PharmGKBi | PA28497 |
VEuPathDBi | HostDB:ENSG00000166206 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3643, Eukaryota |
GeneTreei | ENSGT00940000154713 |
HOGENOMi | CLU_010920_0_2_1 |
InParanoidi | P28472 |
OMAi | DRNIPHK |
PhylomeDBi | P28472 |
TreeFami | TF315453 |
Enzyme and pathway databases
PathwayCommonsi | P28472 |
Reactomei | R-HSA-1236394, Signaling by ERBB4 R-HSA-977443, GABA receptor activation |
SignaLinki | P28472 |
SIGNORi | P28472 |
Miscellaneous databases
BioGRID-ORCSi | 2562, 6 hits in 1037 CRISPR screens |
ChiTaRSi | GABRB3, human |
GeneWikii | GABRB3 |
GenomeRNAii | 2562 |
Pharosi | P28472, Tclin |
PROi | PR:P28472 |
RNActi | P28472, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000166206, Expressed in pituitary gland and 177 other tissues |
ExpressionAtlasi | P28472, baseline and differential |
Genevisiblei | P28472, HS |
Family and domain databases
Gene3Di | 1.20.58.390, 1 hit 2.70.170.10, 1 hit |
InterProi | View protein in InterPro IPR006028, GABAA/Glycine_rcpt IPR002289, GABAAb_rcpt IPR006202, Neur_chan_lig-bd IPR036734, Neur_chan_lig-bd_sf IPR006201, Neur_channel IPR036719, Neuro-gated_channel_TM_sf IPR038050, Neuro_actylchol_rec IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR01160, GABAARBETA PR00253, GABAARECEPTR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GBRB3_HUMAN | |
Accessioni | P28472Primary (citable) accession number: P28472 Secondary accession number(s): B7Z2W1 Q96FM5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 1992 |
Last sequence update: | December 1, 1992 | |
Last modified: | February 23, 2022 | |
This is version 212 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries