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Protein

Gamma-aminobutyric acid receptor subunit gamma-3

Gene

GABRG3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:G66-32894-MONOMER.
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.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit gamma-3
Alternative name(s):
GABA(A) receptor subunit gamma-3
Gene namesi
Name:GABRG3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:4088. GABRG3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini18 – 254ExtracellularCuratedAdd BLAST237
Transmembranei255 – 277HelicalCuratedAdd BLAST23
Transmembranei281 – 303HelicalCuratedAdd BLAST23
Transmembranei315 – 337HelicalCuratedAdd BLAST23
Topological domaini338 – 443CytoplasmicCuratedAdd BLAST106
Transmembranei444 – 467HelicalCuratedAdd BLAST24

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2567.
OpenTargetsiENSG00000182256.
PharmGKBiPA28502.

Chemistry databases

ChEMBLiCHEMBL2093872.
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.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.

Polymorphism and mutation databases

BioMutaiGABRG3.
DMDMi13959689.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000000048118 – 467Gamma-aminobutyric acid receptor subunit gamma-3Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi171 ↔ 185By similarity
Glycosylationi228N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

May be palmitoylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ99928.
PRIDEiQ99928.

PTM databases

iPTMnetiQ99928.
PhosphoSitePlusiQ99928.

Expressioni

Gene expression databases

BgeeiENSG00000182256.
CleanExiHS_GABRG3.
ExpressionAtlasiQ99928. baseline and differential.
GenevisibleiQ99928. HS.

Organism-specific databases

HPAiHPA054010.

Interactioni

Subunit structurei

Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

Protein-protein interaction databases

BioGridi108841. 1 interactor.
STRINGi9606.ENSP00000331912.

Structurei

3D structure databases

ProteinModelPortaliQ99928.
SMRiQ99928.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiQ99928.
KOiK05186.
OMAiMYWQDFE.
OrthoDBiEOG091G0805.
PhylomeDBiQ99928.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR005440. GABBAg3_rcpt.
IPR005437. GABBAg_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]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01623. GABAARGAMMA3.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99928-1) [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
MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI
60 70 80 90 100
LNKLLREYDK KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ
110 120 130 140 150
TWTDSRLRFN STMKILTLNS NMVGLIWIPD TIFRNSKTAE AHWITTPNQL
160 170 180 190 200
LRIWNDGKIL YTLRLTINAE CQLQLHNFPM DEHSCPLIFS SYGYPKEEMI
210 220 230 240 250
YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY VVMTIYFELS
260 270 280 290 300
RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS
310 320 330 340 350
TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK
360 370 380 390 400
KTTSLLHPDS SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF
410 420 430 440 450
EDTCVYECLD GKDCQSFFCC YEECKSGSWR KGRIHIDILE LDSYSRVFFP
460
TSFLLFNLVY WVGYLYL
Length:467
Mass (Da):54,289
Last modified:May 4, 2001 - v2
Checksum:i1B22D145166438D6
GO
Isoform 2 (identifier: Q99928-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-253: DYVVMTIYFELSRRM → RNLLKEAQLSKAREA
     254-467: Missing.

Note: No experimental confirmation available.
Show »
Length:253
Mass (Da):29,402
Checksum:iBB0AE39434EE015F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti172Q → R in BC045709 (PubMed:15489334).Curated1
Sequence conflicti386T → P in AAB39369 (PubMed:8719414).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033957352T → A Found in a patient with MRT52; unknown pathological significance. 1 PublicationCorresponds to variant rs2066712dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047543239 – 253DYVVM…LSRRM → RNLLKEAQLSKAREA in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_047544254 – 467Missing in isoform 2. 1 PublicationAdd BLAST214

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S82769 mRNA. Translation: AAB39369.1.
AF269144
, AF269135, AF269136, AF269137, AF269138, AF269139, AF269140, AF269141, AF269142, AF269143 Genomic DNA. Translation: AAF99698.1.
AC104002 Genomic DNA. No translation available.
AC127511 Genomic DNA. No translation available.
AC135326 Genomic DNA. No translation available.
AC136896 Genomic DNA. No translation available.
AC144833 Genomic DNA. No translation available.
AC145436 Genomic DNA. No translation available.
EU606049 Genomic DNA. No translation available.
CH471151 Genomic DNA. Translation: EAW57658.1.
BC045709 mRNA. No translation available.
AH009226 Genomic DNA. Translation: AAF63215.1.
CCDSiCCDS45195.1. [Q99928-1]
CCDS59251.1. [Q99928-2]
RefSeqiNP_001257802.1. NM_001270873.1. [Q99928-2]
NP_150092.2. NM_033223.4. [Q99928-1]
UniGeneiHs.569475.

Genome annotation databases

EnsembliENST00000555083; ENSP00000452244; ENSG00000182256. [Q99928-2]
ENST00000615808; ENSP00000479113; ENSG00000182256. [Q99928-1]
GeneIDi2567.
KEGGihsa:2567.
UCSCiuc001zbf.5. human. [Q99928-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S82769 mRNA. Translation: AAB39369.1.
AF269144
, AF269135, AF269136, AF269137, AF269138, AF269139, AF269140, AF269141, AF269142, AF269143 Genomic DNA. Translation: AAF99698.1.
AC104002 Genomic DNA. No translation available.
AC127511 Genomic DNA. No translation available.
AC135326 Genomic DNA. No translation available.
AC136896 Genomic DNA. No translation available.
AC144833 Genomic DNA. No translation available.
AC145436 Genomic DNA. No translation available.
EU606049 Genomic DNA. No translation available.
CH471151 Genomic DNA. Translation: EAW57658.1.
BC045709 mRNA. No translation available.
AH009226 Genomic DNA. Translation: AAF63215.1.
CCDSiCCDS45195.1. [Q99928-1]
CCDS59251.1. [Q99928-2]
RefSeqiNP_001257802.1. NM_001270873.1. [Q99928-2]
NP_150092.2. NM_033223.4. [Q99928-1]
UniGeneiHs.569475.

3D structure databases

ProteinModelPortaliQ99928.
SMRiQ99928.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108841. 1 interactor.
STRINGi9606.ENSP00000331912.

Chemistry databases

ChEMBLiCHEMBL2093872.
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.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.

PTM databases

iPTMnetiQ99928.
PhosphoSitePlusiQ99928.

Polymorphism and mutation databases

BioMutaiGABRG3.
DMDMi13959689.

Proteomic databases

PaxDbiQ99928.
PRIDEiQ99928.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000555083; ENSP00000452244; ENSG00000182256. [Q99928-2]
ENST00000615808; ENSP00000479113; ENSG00000182256. [Q99928-1]
GeneIDi2567.
KEGGihsa:2567.
UCSCiuc001zbf.5. human. [Q99928-1]

Organism-specific databases

CTDi2567.
DisGeNETi2567.
GeneCardsiGABRG3.
GeneReviewsiGABRG3.
H-InvDBHIX0026811.
HGNCiHGNC:4088. GABRG3.
HPAiHPA054010.
MIMi600233. gene.
neXtProtiNX_Q99928.
OpenTargetsiENSG00000182256.
PharmGKBiPA28502.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiQ99928.
KOiK05186.
OMAiMYWQDFE.
OrthoDBiEOG091G0805.
PhylomeDBiQ99928.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:G66-32894-MONOMER.
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.

Miscellaneous databases

ChiTaRSiGABRG3. human.
GeneWikiiGABRG3.
GenomeRNAii2567.
PROiQ99928.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182256.
CleanExiHS_GABRG3.
ExpressionAtlasiQ99928. baseline and differential.
GenevisibleiQ99928. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR005440. GABBAg3_rcpt.
IPR005437. GABBAg_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]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01623. GABAARGAMMA3.
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 nameiGBRG3_HUMAN
AccessioniPrimary (citable) accession number: Q99928
Secondary accession number(s): G3V594, Q9HD46, Q9NYT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 4, 2001
Last modified: November 2, 2016
This is version 152 of the entry and version 2 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

Miscellaneous

This subunit carries the benzodiazepine binding site.

Keywords - Technical termi

Complete proteome, 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. 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.