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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:GABRB3

Protein Summary

check button Gene summary
Gene name: GABRB3
ASpdb.0 ID: 2562
Gene
Gene symbol

GABRB3

Gene ID

2562

Gene namegamma-aminobutyric acid type A receptor subunit beta3
SynonymsDEE43|ECA5|EIEE43
Cytomap

15q12

Type of geneprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit beta-3GABA-alpha receptor beta-2 subunitGABAA receptor beta-3 subunitgamma-aminobutyric acid (GABA) A receptor, beta 3gamma-aminobutyric acid A receptor beta 3gamma-aminobutyric acid type A receptor beta3 subu
Modification date20240411
UniProtAcc

P28472


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneGABRB3

GO:0005886

plasma membrane

26950270

GeneGABRB3

GO:0007214

gamma-aminobutyric acid signaling pathway

30602789|35355020

GeneGABRB3

GO:0022851

GABA-gated chloride ion channel activity

9039914

GeneGABRB3

GO:0071420

cellular response to histamine

18281286

GeneGABRB3

GO:1902476

chloride transmembrane transport

9039914|30602789|35355020

GeneGABRB3

GO:1902711

GABA-A receptor complex

9039914|26950270

GeneGABRB3

GO:1904862

inhibitory synapse assembly

25489750



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
P28472-1P28472-1_6i53_B.pdb6I53EM3.2B33472

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
P28472GABRB3P28472-1P28472-2473473126SubstitutionMWGLAGGRLFGIFSAPVLVAVVCCAQMCSGLLELLLPIWLSWTLGTRGSEPR126
P28472GABRB3P28472-1P28472-3473402380SubstitutionGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMATYQTEE39
P28472GABRB3P28472-1P28472-4473388185Deletionnonenone00

check buttonMultiple sequence alignment of our canonical and alternatively spliced GABRB3

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of GABRB3
UniProt-idENSGENSTENSP
P28472-1ENSG00000166206.16ENST00000311550.10ENSP00000308725.5
P28472-2ENSG00000166206.16ENST00000299267.9ENSP00000299267.4
P28472-3ENSG00000166206.16ENST00000400188.7ENSP00000383049.3
P28472-4ENSG00000166206.16ENST00000545868.4ENSP00000439169.1
P28472-4ENSG00000166206.16ENST00000636466.1ENSP00000489768.1

UniProt-idNM IDNP ID
P28472-1NM_000814.5NP_000805.1
P28472-2NM_021912.4NP_068712.1
P28472-3NM_001191321.2NP_001178250.1
P28472-4NM_001191320.1NP_001178249.1
P28472-4NM_001278631.1NP_001265560.1

check buttonAmino acid sequences of our canonical and alternatively spliced GABRB3
accession_idProtein sequence
P28472-1MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMDYTLTMYFQQ
YWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYD
ASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR
VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDVNAIDR
P28472-2MCSGLLELLLPIWLSWTLGTRGSEPRSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMDYTLTMYFQQ
YWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYD
ASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR
VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDVNAIDR
P28472-3MWATYQTEEDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC
MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTY
MPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKK
LAEKTAKAKNDRSKSESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRR
P28472-4MYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNC
TLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSF
WINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSK
SESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDV

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
GABRB3 (go to UniProt):P28472

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
P28472Topological domain26245Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990Type=Substitution;Start=1;End=26
P28472Topological domain26245Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990Type=Substitution;Start=3;End=80
P28472Topological domain26245Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990Type=Deletion;Start=1;End=85


Gene Isoform Structures and Expression Levels for GABRB3

check buttonGene structures of our canonical and alternative spliced genes of GABRB3
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of GABRB3

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of P28472-1
3D view using mol* of P28472-2
3D view using mol* of P28472-3
3D view using mol* of P28472-4


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of P28472-1
all structure
pLDDT distribution across the protein length of P28472-2
all structure
pLDDT distribution across the protein length of P28472-3
all structure
pLDDT distribution across the protein length of P28472-4
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of P28472-1
all structure
Ramachandran plot of P28472-3
all structure
Ramachandran plot of P28472-4
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
P28472-10.898480.989131.3690.6960.6050.722.5820.07634.06423.222316,319,322,323,326,440,442,448,451,452,455,456,45
9
P28472-20.961740.999188.3070.5820.6910.9641.3970.6882.0330.481330,331,334,335,337,338,339,341,342,345,439,440,44
1,442,445
P28472-31.052351.085379.7010.4020.7340.9481.1380.9051.2570.7011,2,15,16,17,18,19,20,21,22,48,50,106,108,118,119,
120,121,122,123,128,129,130,131,134,162,164
P28472-41.0772321.145613.2840.5670.7070.8331.1960.6721.780.591,2,3,4,5,6,7,8,32,34,36,38,40,71,72,74,75,76,90,9
1,92,94,104,105,106,107,108,109,114,115,116,118,12
1,148,150,152,154

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of P28472-1_P28472-1_6i53_B.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P28472-1_6i53_B_P28472-2.pdb
3D view using mol* of P28472-1_6i53_B_P28472-3.pdb
3D view using mol* of P28472-1_6i53_B_P28472-4.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P28472-1_P28472-2.pdb
3D view using mol* of P28472-1_P28472-3.pdb
3D view using mol* of P28472-1_P28472-4.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/P28472-1_vs_P28472-2.png
all structure<
./stats/secondary_structure/figure/P28472-1_vs_P28472-3.png
all structure<
./stats/secondary_structure/figure/P28472-1_vs_P28472-4.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/P28472-1_vs_P28472-2.png
all structure<
./stats/relative_asa/P28472-1_vs_P28472-3.png
all structure<
./stats/relative_asa/P28472-1_vs_P28472-4.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to GABRB3


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions
P28472GABRB3DB01567Fludiazepamexperimental, illicitpotentiator
P28472GABRB3DB00592Piperazineapproved, vet_approvedagonist
P28472GABRB3DB00898Ethanolapproved
P28472GABRB3DB12458Muscimolinvestigational
P28472GABRB3DB00431Lindaneapproved, withdrawn
P28472GABRB3DB00818Propofolapproved, investigational, vet_approvedpotentiator
P28472GABRB3DB06716Fospropofolapproved, illicit, investigationalpotentiator

Related Diseases to GABRB3


check button Previous studies relating to the alternative splicing of GABRB3 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in GABRB3


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance