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Protein

Gamma-aminobutyric acid receptor subunit beta-3

Gene

GABRB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Binding sitei225Agonist1

GO - Molecular functioni

  • GABA-A receptor activity Source: UniProtKB
  • GABA-gated chloride ion channel activity Source: UniProtKB

GO - Biological processi

  • cellular response to histamine Source: UniProtKB
  • chloride transmembrane transport Source: UniProtKB
  • cochlea development Source: Ensembl
  • inhibitory postsynaptic potential Source: Ensembl
  • inner ear receptor cell development Source: Ensembl
  • innervation Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • negative regulation of neuron apoptotic process Source: Ensembl
  • palate development Source: UniProtKB
  • sensory perception of sound Source: Ensembl
  • signal transduction Source: ProtInc
  • 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

ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.
SignaLinkiP28472.

Protein family/group databases

TCDBi1.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-3
Alternative name(s):
GABA(A) receptor subunit beta-3
Gene namesi
Name:GABRB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:4083. GABRB3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 245Extracellular1 PublicationAdd BLAST220
Transmembranei246 – 267HelicalAdd BLAST22
Topological domaini268 – 270Cytoplasmic1 Publication3
Transmembranei271 – 293HelicalAdd BLAST23
Topological domaini294 – 304Extracellular1 PublicationAdd BLAST11
Transmembranei305 – 327HelicalAdd BLAST23
Topological domaini328 – 450Cytoplasmic1 PublicationAdd BLAST123
Transmembranei451 – 472HelicalAdd BLAST22

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • chloride channel complex Source: UniProtKB-KW
  • GABA-A receptor complex Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • plasma membrane Source: Reactome
  • postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Epilepsy, childhood absence 5 (ECA5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612269
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04795732G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 2 PublicationsCorresponds to variant rs71651682dbSNPEnsembl.1
Isoform 2 (identifier: P28472-2)
Natural varianti11P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant rs25409dbSNPEnsembl.1
Natural varianti15S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2562.
MalaCardsiGABRB3.
MIMi137192. gene+phenotype.
612269. phenotype.
OpenTargetsiENSG00000166206.
Orphaneti106. Autism.
64280. Childhood absence epilepsy.
PharmGKBiPA28497.

Chemistry databases

ChEMBLiCHEMBL1847.
DrugBankiDB00659. 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.
DB00898. Ethanol.
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.
GuidetoPHARMACOLOGYi412.

Polymorphism and mutation databases

BioMutaiGABRB3.
DMDMi120773.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000000046226 – 473Gamma-aminobutyric acid receptor subunit beta-3Add BLAST448

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi33N-linked (GlcNAc...)1 Publication1
Glycosylationi105N-linked (GlcNAc...)1 Publication1
Disulfide bondi161 ↔ 1751 Publication
Glycosylationi174N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP28472.
PaxDbiP28472.
PeptideAtlasiP28472.
PRIDEiP28472.

PTM databases

iPTMnetiP28472.
PhosphoSitePlusiP28472.

Expressioni

Gene expression databases

BgeeiENSG00000166206.
CleanExiHS_GABRB3.
ExpressionAtlasiP28472. baseline and differential.
GenevisibleiP28472. HS.

Organism-specific databases

HPAiCAB002159.

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).By similarity5 Publications

Protein-protein interaction databases

BioGridi108836. 9 interactors.
DIPiDIP-61029N.
IntActiP28472. 1 interactor.
STRINGi9606.ENSP00000299267.

Chemistry databases

BindingDBiP28472.

Structurei

Secondary structure

1473
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi34 – 45Combined sources12
Turni54 – 57Combined sources4
Beta strandi61 – 76Combined sources16
Turni77 – 80Combined sources4
Beta strandi81 – 93Combined sources13
Helixi95 – 97Combined sources3
Beta strandi106 – 108Combined sources3
Helixi110 – 115Combined sources6
Beta strandi121 – 123Combined sources3
Beta strandi126 – 131Combined sources6
Beta strandi134 – 136Combined sources3
Beta strandi138 – 143Combined sources6
Beta strandi147 – 160Combined sources14
Turni166 – 169Combined sources4
Beta strandi172 – 183Combined sources12
Turni186 – 188Combined sources3
Beta strandi189 – 193Combined sources5
Helixi196 – 198Combined sources3
Beta strandi199 – 201Combined sources3
Helixi203 – 205Combined sources3
Beta strandi209 – 225Combined sources17
Beta strandi228 – 241Combined sources14
Helixi244 – 249Combined sources6
Helixi251 – 262Combined sources12
Helixi263 – 266Combined sources4
Helixi272 – 295Combined sources24
Helixi305 – 330Combined sources26
Helixi447 – 471Combined sources25

3D structure databases

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

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni120 – 122Agonist binding3
Regioni180 – 182Agonist binding3
Regioni290 – 311Allosteric effector bindingAdd BLAST22

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3643. Eukaryota.
ENOG410XPWH. LUCA.
GeneTreeiENSGT00760000118821.
HOVERGENiHBG051707.
InParanoidiP28472.
KOiK05181.
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. 2 hits.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti97L → H in BAH13811 (PubMed:14702039).Curated1
Sequence conflicti193W → R in BAH11997 (PubMed:14702039).Curated1

Polymorphismi

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04795732G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 2 PublicationsCorresponds to variant rs71651682dbSNPEnsembl.1
Natural variantiVAR_047958173Q → L.1 PublicationCorresponds to variant rs17850679dbSNPEnsembl.1
Natural variantiVAR_047959217R → 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 rs121913125dbSNPEnsembl.1
Isoform 2 (identifier: P28472-2)
Natural varianti11P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant rs25409dbSNPEnsembl.1
Natural varianti15S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0466761 – 85Missing in isoform 4. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_0000881 – 26MWGLA…VCCAQ → MCSGLLELLLPIWLSWTLGT RGSEPR in isoform 2. CuratedAdd BLAST26
Alternative sequenceiVSP_0461263 – 80GLAGG…SEVNM → ATYQTEE in isoform 3. 1 PublicationAdd BLAST78

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]
ENST00000628124; ENSP00000486819; ENSG00000166206. [P28472-4]
ENST00000636466; ENSP00000489768; ENSG00000166206. [P28472-4]
GeneIDi2562.
KEGGihsa:2562.
UCSCiuc001zaz.5. human. [P28472-1]

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.
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi108836. 9 interactors.
DIPiDIP-61029N.
IntActiP28472. 1 interactor.
STRINGi9606.ENSP00000299267.

Chemistry databases

BindingDBiP28472.
ChEMBLiCHEMBL1847.
DrugBankiDB00659. 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.
DB00898. Ethanol.
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.
GuidetoPHARMACOLOGYi412.

Protein family/group databases

TCDBi1.A.9.5.4. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

iPTMnetiP28472.
PhosphoSitePlusiP28472.

Polymorphism and mutation databases

BioMutaiGABRB3.
DMDMi120773.

Proteomic databases

MaxQBiP28472.
PaxDbiP28472.
PeptideAtlasiP28472.
PRIDEiP28472.

Protocols and materials databases

DNASUi2562.
Structural Biology KnowledgebaseSearch...

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]
ENST00000628124; ENSP00000486819; ENSG00000166206. [P28472-4]
ENST00000636466; ENSP00000489768; ENSG00000166206. [P28472-4]
GeneIDi2562.
KEGGihsa:2562.
UCSCiuc001zaz.5. human. [P28472-1]

Organism-specific databases

CTDi2562.
DisGeNETi2562.
GeneCardsiGABRB3.
GeneReviewsiGABRB3.
HGNCiHGNC:4083. GABRB3.
HPAiCAB002159.
MalaCardsiGABRB3.
MIMi137192. gene+phenotype.
612269. phenotype.
neXtProtiNX_P28472.
OpenTargetsiENSG00000166206.
Orphaneti106. Autism.
64280. Childhood absence epilepsy.
PharmGKBiPA28497.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3643. Eukaryota.
ENOG410XPWH. LUCA.
GeneTreeiENSGT00760000118821.
HOVERGENiHBG051707.
InParanoidiP28472.
KOiK05181.
PhylomeDBiP28472.
TreeFamiTF315453.

Enzyme and pathway databases

ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.
SignaLinkiP28472.

Miscellaneous databases

ChiTaRSiGABRB3. human.
GeneWikiiGABRB3.
GenomeRNAii2562.
PROiP28472.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166206.
CleanExiHS_GABRB3.
ExpressionAtlasiP28472. baseline and differential.
GenevisibleiP28472. HS.

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. 2 hits.
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]
ProtoNetiSearch...

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 30, 2016
This is version 173 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.