GABRB3

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.6 Publications

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Binding siteⁱ	225	Agonist		1

GO - Molecular functionⁱ

GABA-A receptor activity
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 22303015
GABA-gated chloride ion channel activity
Source: GO_Central
Inferred from direct assayⁱ
- 9039914
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 16537435
- 24909990
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cellular response to histamine
Source: UniProtKB
Inferred from direct assayⁱ
- 18281286
chemical synaptic transmission
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
chloride transmembrane transport
Source: GO_Central
Inferred from direct assayⁱ
- 9039914
cochlea development Source: Ensembl
gamma-aminobutyric acid signaling pathway
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 26950270
inhibitory postsynaptic potential Source: Ensembl
inner ear receptor cell development Source: Ensembl
innervation Source: Ensembl
ion transmembrane transport
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
negative regulation of neuron apoptotic process Source: Ensembl
nervous system process
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
regulation of membrane potential
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
roof of mouth development Source: UniProtKB
sensory perception of sound Source: Ensembl
signal transduction
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Chloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological process	Ion transport, Transport
Ligand	Chloride

Enzyme and pathway databases

Reactomeⁱ	R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission R-HSA-977441 GABA A receptor activation
SignaLinkⁱ	P28472

Protein family/group databases

TCDBⁱ	1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

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-3 Alternative name(s): GABA(A) receptor subunit beta-3
Gene namesⁱ	Name:GABRB3
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000166206.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4083 GABRB3
MIMⁱ	137192 gene+phenotype
neXtProtⁱ	NX_P28472

Topology

Feature key	Position(s)	DescriptionActions	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, Synapse

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Epilepsy, childhood absence 5 (ECA5)2 Publications

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.

Feature key	Position(s)	DescriptionActions	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 variantⁱ	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 variantⁱ	15	S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication	1

Epileptic encephalopathy, early infantile, 43 (EIEE43)6 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE43 inheritance is autosomal dominant.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_077076	120	D → N in EIEE43; 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 EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519550Ensembl.	1
Natural variantⁱVAR_078619	138	N → NH in EIEE43. 1 Publication	1
Natural variantⁱVAR_077077	157	T → M in EIEE43; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077078	182	Y → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037939EnsemblClinVar.	1
Natural variantⁱVAR_077079	249	Q → K in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037940EnsemblClinVar.	1
Natural variantⁱVAR_078224	254	S → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519549Ensembl.	1
Natural variantⁱVAR_077080	256	L → Q in EIEE43. 1 Publication	1
Natural variantⁱVAR_078719	287	T → I in EIEE43. 1 Publication	1
Natural variantⁱVAR_077081	293	L → H in EIEE43; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077082	305	A → T in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037941EnsemblClinVar.	1

Keywords - Diseaseⁱ

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2562
GeneReviewsⁱ	GABRB3
MalaCards human disease database More...MalaCardsⁱ	GABRB3
MIMⁱ	137192 gene+phenotype 612269 phenotype 617113 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000166206
Orphanetⁱ	64280 Childhood absence epilepsy 2382 Lennox-Gastaut syndrome 106 NON RARE IN EUROPE: Autism
PharmGKBⁱ	PA28497

Chemistry databases

ChEMBLⁱ	CHEMBL1847
Drug and drug target database More...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 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 DB00463 Metharbital DB01028 Methoxyflurane DB01107 Methyprylon DB00683 Midazolam DB01595 Nitrazepam DB00334 Olanzapine DB00842 Oxazepam DB00312 Pentobarbital DB00592 Piperazine DB01708 Prasterone DB01588 Prazepam DB00794 Primidone DB00818 Propofol DB01589 Quazepam DB01236 Sevoflurane DB00306 Talbutal DB00231 Temazepam DB11582 Thiocolchicoside DB00273 Topiramate DB00897 Triazolam
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	412

Polymorphism and mutation 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	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, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P28472
PaxDbⁱ	P28472
PeptideAtlas More...PeptideAtlasⁱ	P28472
PRIDEⁱ	P28472
ProteomicsDBⁱ	54485 54486 [P28472-2]

PTM databases

iPTMnetⁱ	P28472
PhosphoSitePlusⁱ	P28472

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000166206 Expressed in 156 organ(s), highest expression level in pituitary gland
CleanExⁱ	HS_GABRB3
ExpressionAtlasⁱ	P28472 baseline and differential
Genevisibleⁱ	P28472 HS

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).By similarity5 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
itself		5	EBI-6258252,EBI-6258252

With

Entry

#Exp.

IntAct

Notes

itself

5

EBI-6258252,EBI-6258252

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 16537435
- 24909990

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108836, 10 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
Database of interacting proteins More...DIPⁱ	DIP-61029N
IntActⁱ	P28472, 1 interactor
STRINGⁱ	9606.ENSP00000299267

Chemistry databases

BindingDBⁱ

P28472

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	34 – 45	Combined sources	12
Turnⁱ	54 – 57	Combined sources	4
Beta strandⁱ	61 – 76	Combined sources	16
Turnⁱ	77 – 80	Combined sources	4
Beta strandⁱ	81 – 93	Combined sources	13
Helixⁱ	95 – 97	Combined sources	3
Beta strandⁱ	106 – 108	Combined sources	3
Helixⁱ	110 – 115	Combined sources	6
Beta strandⁱ	121 – 123	Combined sources	3
Beta strandⁱ	126 – 131	Combined sources	6
Beta strandⁱ	134 – 136	Combined sources	3
Beta strandⁱ	138 – 143	Combined sources	6
Beta strandⁱ	147 – 160	Combined sources	14
Turnⁱ	166 – 169	Combined sources	4
Beta strandⁱ	172 – 183	Combined sources	12
Turnⁱ	186 – 188	Combined sources	3
Beta strandⁱ	189 – 193	Combined sources	5
Helixⁱ	196 – 198	Combined sources	3
Beta strandⁱ	199 – 201	Combined sources	3
Helixⁱ	203 – 205	Combined sources	3
Beta strandⁱ	209 – 225	Combined sources	17
Beta strandⁱ	228 – 241	Combined sources	14
Helixⁱ	244 – 249	Combined sources	6
Helixⁱ	251 – 262	Combined sources	12
Helixⁱ	263 – 266	Combined sources	4
Helixⁱ	272 – 295	Combined sources	24
Helixⁱ	305 – 330	Combined sources	26
Helixⁱ	447 – 471	Combined sources	25

Show more details

3D structure databases

ProteinModelPortalⁱ	P28472
SMRⁱ	P28472
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	120 – 122	Agonist binding	3
Regionⁱ	180 – 182	Agonist binding	3
Regionⁱ	290 – 311	Allosteric effector bindingAdd BLAST	22

Sequence similaritiesⁱ

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily. [View classification]Curated

Keywords - Domainⁱ

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3643 Eukaryota ENOG410XPWH LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118821
HOVERGENⁱ	HBG051707
InParanoidⁱ	P28472
KEGG Orthology (KO) More...KOⁱ	K05181
PhylomeDBⁱ	P28472
TreeFamⁱ	TF315453

Family and domain databases

Gene3Dⁱ	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 IPR006029 Neurotrans-gated_channel_TM IPR018000 Neurotransmitter_ion_chnl_CS
PANTHERⁱ	PTHR18945 PTHR18945, 1 hit
Pfam protein domain database More...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

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 Add to basket

Note: Isoforms differ in their signal region.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P28472-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MCSGLLELLL PIWLSWTLGT RGSEPRSVND 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

Show »

Length:473

Mass (Da):54,379

Checksum:ⁱ3A7F9A0EB3537D5E

GO

Isoform 3 (identifier: P28472-3) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MWATYQTEED YTLTMYFQQY WRDKRLAYSG IPLNLTLDNR VADQLWVPDT 
        60         70         80         90        100
YFLNDKKSFV HGVTVKNRMI RLHPDGTVLY GLRITTTAAC MMDLRRYPLD 
       110        120        130        140        150
EQNCTLEIES YGYTTDDIEF YWRGGDKAVT GVERIELPQF SIVEHRLVSR 
       160        170        180        190        200
NVVFATGAYP RLSLSFRLKR NIGYFILQTY MPSILITILS WVSFWINYDA 
       210        220        230        240        250
SAARVALGIT TVLTMTTINT HLRETLPKIP YVKAIDMYLM GCFVFVFLAL 
       260        270        280        290        300
LEYAFVNYIF FGRGPQRQKK LAEKTAKAKN DRSKSESNRV DAHGNILLTS 
       310        320        330        340        350
LEVHNEMNEV SGGIGDTRNS AISFDNSGIQ YRKQSMPREG HGRFLGDRSL 
       360        370        380        390        400
PHKKTHLRRR SSQLKIKIPD LTDVNAIDRW SRIVFPFTFS LFNLVYWLYY 

VN

Note: No experimental confirmation available.

Show »

Length:402

Mass (Da):46,740

Checksum:ⁱ5B5BB0E56D41435A

GO

Isoform 4 (identifier: P28472-4) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MYFQQYWRDK RLAYSGIPLN LTLDNRVADQ LWVPDTYFLN DKKSFVHGVT 
        60         70         80         90        100
VKNRMIRLHP DGTVLYGLRI TTTAACMMDL RRYPLDEQNC TLEIESYGYT 
       110        120        130        140        150
TDDIEFYWRG GDKAVTGVER IELPQFSIVE HRLVSRNVVF ATGAYPRLSL 
       160        170        180        190        200
SFRLKRNIGY FILQTYMPSI LITILSWVSF WINYDASAAR VALGITTVLT 
       210        220        230        240        250
MTTINTHLRE TLPKIPYVKA IDMYLMGCFV FVFLALLEYA FVNYIFFGRG 
       260        270        280        290        300
PQRQKKLAEK TAKAKNDRSK SESNRVDAHG NILLTSLEVH NEMNEVSGGI 
       310        320        330        340        350
GDTRNSAISF DNSGIQYRKQ SMPREGHGRF LGDRSLPHKK THLRRRSSQL 
       360        370        380 
KIKIPDLTDV NAIDRWSRIV FPFTFSLFNL VYWLYYVN

Show »

Length:388

Mass (Da):45,006

Checksum:ⁱ6646C270C24396F2

GO

Computationally mapped potential isoform sequencesⁱ

There are 6 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

F5H7N0	F5H7N0_HUMAN	Gamma-aminobutyric acid receptor su... Gamma-aminobutyric acid receptor subunit beta-3	GABRB3	529	Annotation score:
A0A1B0GU30	A0A1B0GU30_HUMAN	Gamma-aminobutyric acid receptor su... Gamma-aminobutyric acid receptor subunit beta-3	GABRB3	264	Annotation score:
A0A1B0GVW3	A0A1B0GVW3_HUMAN	Gamma-aminobutyric acid receptor su... Gamma-aminobutyric acid receptor subunit beta-3	GABRB3	440	Annotation score:
G3V4W7	G3V4W7_HUMAN	Gamma-aminobutyric acid receptor su... Gamma-aminobutyric acid receptor subunit beta-3	GABRB3	87	Annotation score:
G3V373	G3V373_HUMAN	Gamma-aminobutyric acid receptor su... Gamma-aminobutyric acid receptor subunit beta-3	GABRB3	105	Annotation score:
H0YJU6	H0YJU6_HUMAN	Gamma-aminobutyric acid receptor su... Gamma-aminobutyric acid receptor subunit beta-3	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

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

Natural variant

Feature key	Position(s)	DescriptionActions	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 EIEE43; 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 EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519550Ensembl.	1
Natural variantⁱVAR_078619	138	N → NH in EIEE43. 1 Publication	1
Natural variantⁱVAR_077077	157	T → M in EIEE43; 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 EIEE43. 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 Publication	1
Natural variantⁱVAR_077079	249	Q → K in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037940EnsemblClinVar.	1
Natural variantⁱVAR_078224	254	S → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519549Ensembl.	1
Natural variantⁱVAR_077080	256	L → Q in EIEE43. 1 Publication	1
Natural variantⁱVAR_078719	287	T → I in EIEE43. 1 Publication	1
Natural variantⁱVAR_077081	293	L → H in EIEE43; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077082	305	A → T in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037941EnsemblClinVar.	1
Isoform 2 (identifier: P28472-2)
Natural variantⁱ	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 variantⁱ	15	S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS10018.1 [P28472-2] CCDS10019.1 [P28472-1] CCDS53920.1 [P28472-4] CCDS53921.1 [P28472-3]
PIRⁱ	A55275 B45468
NCBI Reference Sequences More...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

Genome annotation databases

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P28472	Gamma-aminobutyric acid receptor subunit beta-3		MOUSE		473	UniRef90_P28472
Gamma-aminobutyric acid receptor subunit beta-3		RAT		473
Gamma-aminobutyric acid receptor subunit beta-3		HUMAN		529
GABRB3 isoform 4		PANTR		529
Uncharacterized protein		PROCO		529
+196
P28472-3	Gamma-aminobutyric acid type A receptor beta3 subunit		CALJA		476	UniRef90_P28472-3
Uncharacterized protein		MACMU		403
Uncharacterized protein		MYOLU		403
GABRB3 isoform 10		PANTR		402
Uncharacterized protein		RHIBE		402
+62

Protein	Similar proteins		Species	Score	Length	Source
P28472	Gamma-aminobutyric acid receptor subunit beta-3		MOUSE		473	UniRef50_P28472
Gamma-aminobutyric acid receptor subunit beta-3		RAT		473
Gamma-aminobutyric acid receptor subunit beta-3		CHICK		476
Gamma-aminobutyric acid receptor subunit beta-2	)	HUMAN		512
Gamma-aminobutyric acid receptor subunit beta-2		MACMU		512
+1343

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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	P28472
SMRⁱ	P28472
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108836, 10 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, 1 interactor
STRINGⁱ	9606.ENSP00000299267

Chemistry databases

BindingDBⁱ	P28472
ChEMBLⁱ	CHEMBL1847
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 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 DB00463 Metharbital DB01028 Methoxyflurane DB01107 Methyprylon DB00683 Midazolam DB01595 Nitrazepam DB00334 Olanzapine DB00842 Oxazepam DB00312 Pentobarbital DB00592 Piperazine DB01708 Prasterone DB01588 Prazepam DB00794 Primidone DB00818 Propofol DB01589 Quazepam DB01236 Sevoflurane DB00306 Talbutal DB00231 Temazepam DB11582 Thiocolchicoside DB00273 Topiramate DB00897 Triazolam
GuidetoPHARMACOLOGYⁱ	412

Protein family/group databases

TCDBⁱ	1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

TCDBⁱ

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

PTM databases

iPTMnetⁱ	P28472
PhosphoSitePlusⁱ	P28472

Polymorphism and mutation databases

BioMutaⁱ	GABRB3
DMDMⁱ	120773

Proteomic databases

MaxQBⁱ	P28472
PaxDbⁱ	P28472
PeptideAtlasⁱ	P28472
PRIDEⁱ	P28472
ProteomicsDBⁱ	54485 54486 [P28472-2]

Protocols and materials databases

The DNASU plasmid repository More...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] ENST00000628124; ENSP00000486819; ENSG00000166206 [P28472-4] ENST00000636466; ENSP00000489768; ENSG00000166206 [P28472-4]
GeneIDⁱ	2562
KEGGⁱ	hsa:2562
UCSCⁱ	uc001zaz.5 human [P28472-1]

Organism-specific databases

CTDⁱ	2562
DisGeNETⁱ	2562
EuPathDBⁱ	HostDB:ENSG00000166206.13
GeneCardsⁱ	GABRB3
GeneReviewsⁱ	GABRB3
HGNCⁱ	HGNC:4083 GABRB3
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3643 Eukaryota ENOG410XPWH LUCA
GeneTreeⁱ	ENSGT00760000118821
HOVERGENⁱ	HBG051707
InParanoidⁱ	P28472
KOⁱ	K05181
PhylomeDBⁱ	P28472
TreeFamⁱ	TF315453

Enzyme and pathway databases

Reactomeⁱ	R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission R-HSA-977441 GABA A receptor activation
SignaLinkⁱ	P28472

Miscellaneous databases

ChiTaRSⁱ	GABRB3 human
GeneWikiⁱ	GABRB3
GenomeRNAiⁱ	2562
Protein Ontology More...PROⁱ	PR:P28472
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000166206 Expressed in 156 organ(s), highest expression level in pituitary gland
CleanExⁱ	HS_GABRB3
ExpressionAtlasⁱ	P28472 baseline and differential
Genevisibleⁱ	P28472 HS

Family and domain databases

Gene3Dⁱ	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 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
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	GBRB3_HUMAN
Accessionⁱ	P28472Primary (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 7, 2018
	This is version 190 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
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
Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM
Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

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UniProtKB - P28472 (GBRB3_HUMAN)

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Gamma-aminobutyric acid receptor subunit beta-3

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Keywords - Cellular componenti

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Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

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Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

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Miscellaneous databases

Gene expression databases

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ