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Protein

Gamma-aminobutyric acid receptor subunit gamma-1

Gene

GABRG1

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:ENSG00000163285-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit gamma-1
Alternative name(s):
GABA(A) receptor subunit gamma-1
Gene namesi
Name:GABRG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:4086. GABRG1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini36 – 272ExtracellularCuratedAdd BLAST237
Transmembranei273 – 294HelicalCuratedAdd BLAST22
Transmembranei299 – 320HelicalCuratedAdd BLAST22
Transmembranei332 – 354HelicalCuratedAdd BLAST23
Topological domaini355 – 444CytoplasmicCuratedAdd BLAST90
Transmembranei445 – 465HelicalCuratedAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2565.
OpenTargetsiENSG00000163285.
PharmGKBiPA28500.

Chemistry databases

ChEMBLiCHEMBL2109243.
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.
DB01587. Ketazolam.
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

BioMutaiGABRG1.
DMDMi209572630.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000000047336 – 465Gamma-aminobutyric acid receptor subunit gamma-1Add BLAST430

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi50N-linked (GlcNAc...)Sequence analysis1
Glycosylationi127N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi188 ↔ 202By similarity
Glycosylationi245N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

May be palmitoylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ8N1C3.
PeptideAtlasiQ8N1C3.
PRIDEiQ8N1C3.

PTM databases

iPTMnetiQ8N1C3.
PhosphoSitePlusiQ8N1C3.

Expressioni

Gene expression databases

BgeeiENSG00000163285.
CleanExiHS_GABRG1.
GenevisibleiQ8N1C3. HS.

Organism-specific databases

HPAiHPA035622.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108839. 1 interactor.
STRINGi9606.ENSP00000295452.

Structurei

3D structure databases

ProteinModelPortaliQ8N1C3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiQ8N1C3.
KOiK05186.
OMAiVRLMFLL.
OrthoDBiEOG091G0805.
PhylomeDBiQ8N1C3.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR005438. GABBAg1_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. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01621. GABAARGAMMA1.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q8N1C3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGPLKAFLFS PFLLRSQSRG VRLVFLLLTL HLGNCVDKAD DEDDEDLTVN
60 70 80 90 100
KTWVLAPKIH EGDITQILNS LLQGYDNKLR PDIGVRPTVI ETDVYVNSIG
110 120 130 140 150
PVDPINMEYT IDIIFAQTWF DSRLKFNSTM KVLMLNSNMV GKIWIPDTFF
160 170 180 190 200
RNSRKSDAHW ITTPNRLLRI WNDGRVLYTL RLTINAECYL QLHNFPMDEH
210 220 230 240 250
SCPLEFSSYG YPKNEIEYKW KKPSVEVADP KYWRLYQFAF VGLRNSTEIT
260 270 280 290 300
HTISGDYVIM TIFFDLSRRM GYFTIQTYIP CILTVVLSWV SFWINKDAVP
310 320 330 340 350
ARTSLGITTV LTMTTLSTIA RKSLPKVSYV TAMDLFVSVC FIFVFAALME
360 370 380 390 400
YGTLHYFTSN QKGKTATKDR KLKNKASMTP GLHPGSTLIP MNNISVPQED
410 420 430 440 450
DYGYQCLEGK DCASFFCCFE DCRTGSWREG RIHIRIAKID SYSRIFFPTA
460
FALFNLVYWV GYLYL
Length:465
Mass (Da):53,595
Last modified:October 14, 2008 - v2
Checksum:i6C322FF55704FA57
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047056403G → E.1 PublicationCorresponds to variant rs17852913dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK122845 mRNA. Translation: BAG53758.1.
CR933628 mRNA. Translation: CAI45936.1.
CH471069 Genomic DNA. Translation: EAW93021.1.
BC031087 mRNA. Translation: AAH31087.1.
CCDSiCCDS3470.1.
RefSeqiNP_775807.2. NM_173536.3.
UniGeneiHs.375051.

Genome annotation databases

EnsembliENST00000295452; ENSP00000295452; ENSG00000163285.
GeneIDi2565.
KEGGihsa:2565.
UCSCiuc003gxb.4. human.

Keywords - Coding sequence diversityi

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
AK122845 mRNA. Translation: BAG53758.1.
CR933628 mRNA. Translation: CAI45936.1.
CH471069 Genomic DNA. Translation: EAW93021.1.
BC031087 mRNA. Translation: AAH31087.1.
CCDSiCCDS3470.1.
RefSeqiNP_775807.2. NM_173536.3.
UniGeneiHs.375051.

3D structure databases

ProteinModelPortaliQ8N1C3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108839. 1 interactor.
STRINGi9606.ENSP00000295452.

Chemistry databases

ChEMBLiCHEMBL2109243.
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.
DB01587. Ketazolam.
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

iPTMnetiQ8N1C3.
PhosphoSitePlusiQ8N1C3.

Polymorphism and mutation databases

BioMutaiGABRG1.
DMDMi209572630.

Proteomic databases

PaxDbiQ8N1C3.
PeptideAtlasiQ8N1C3.
PRIDEiQ8N1C3.

Protocols and materials databases

DNASUi2565.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295452; ENSP00000295452; ENSG00000163285.
GeneIDi2565.
KEGGihsa:2565.
UCSCiuc003gxb.4. human.

Organism-specific databases

CTDi2565.
DisGeNETi2565.
GeneCardsiGABRG1.
HGNCiHGNC:4086. GABRG1.
HPAiHPA035622.
MIMi137166. gene.
neXtProtiNX_Q8N1C3.
OpenTargetsiENSG00000163285.
PharmGKBiPA28500.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiQ8N1C3.
KOiK05186.
OMAiVRLMFLL.
OrthoDBiEOG091G0805.
PhylomeDBiQ8N1C3.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163285-MONOMER.

Miscellaneous databases

GeneWikiiGABRG1.
GenomeRNAii2565.
PROiQ8N1C3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163285.
CleanExiHS_GABRG1.
GenevisibleiQ8N1C3. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR005438. GABBAg1_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. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01621. GABAARGAMMA1.
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 nameiGBRG1_HUMAN
AccessioniPrimary (citable) accession number: Q8N1C3
Secondary accession number(s): Q5H9T8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: October 14, 2008
Last modified: November 2, 2016
This is version 138 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 4
    Human chromosome 4: 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.