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Protein

Gamma-aminobutyric acid receptor subunit gamma-1

Gene

GABRG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

Miscellaneous

This subunit carries the benzodiazepine binding site.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandChloride

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

EuPathDBiHostDB:ENSG00000163285.7
HGNCiHGNC:4086 GABRG1
MIMi137166 gene
neXtProtiNX_Q8N1C3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2565
OpenTargetsiENSG00000163285
PharmGKBiPA28500

Chemistry databases

ChEMBLiCHEMBL2093872
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
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
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
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...) asparagineSequence analysis1
Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi188 ↔ 202By similarity
Glycosylationi245N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

May be palmitoylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ8N1C3
PeptideAtlasiQ8N1C3
PRIDEiQ8N1C3
ProteomicsDBi71585

PTM databases

iPTMnetiQ8N1C3
PhosphoSitePlusiQ8N1C3

Expressioni

Gene expression databases

BgeeiENSG00000163285 Expressed in 74 organ(s), highest expression level in frontal cortex
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.

GO - Molecular functioni

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
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR005438 GABBAg1_rcpt
IPR005437 GABBAg_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
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00253 GABAARECEPTR
PR01620 GABAARGAMMA
PR01621 GABAARGAMMA1
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

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 → E1 PublicationCorresponds to variant dbSNP:rs17852913Ensembl.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

Similar proteinsi

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

ChEMBLiCHEMBL2093872
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
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
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

PTM databases

iPTMnetiQ8N1C3
PhosphoSitePlusiQ8N1C3

Polymorphism and mutation databases

BioMutaiGABRG1
DMDMi209572630

Proteomic databases

PaxDbiQ8N1C3
PeptideAtlasiQ8N1C3
PRIDEiQ8N1C3
ProteomicsDBi71585

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
EuPathDBiHostDB:ENSG00000163285.7
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

Miscellaneous databases

ChiTaRSiGABRG1 human
GeneWikiiGABRG1
GenomeRNAii2565
PROiPR:Q8N1C3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163285 Expressed in 74 organ(s), highest expression level in frontal cortex
CleanExiHS_GABRG1
GenevisibleiQ8N1C3 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR005438 GABBAg1_rcpt
IPR005437 GABBAg_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
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00253 GABAARECEPTR
PR01620 GABAARGAMMA
PR01621 GABAARGAMMA1
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGBRG1_HUMAN
AccessioniPrimary (citable) accession number: Q8N1C3
Secondary accession number(s): Q5H9T8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: October 14, 2008
Last modified: September 12, 2018
This is version 150 of the entry and version 2 of the sequence. See 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

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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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