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Protein

Gamma-aminobutyric acid receptor subunit alpha-6

Gene

GABRA6

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.

GO - Molecular functioni

GO - Biological processi

  • gamma-aminobutyric acid signaling pathway Source: InterPro
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionChloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

ReactomeiR-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-977441 GABA A receptor activation

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-6
Alternative name(s):
GABA(A) receptor subunit alpha-6
Gene namesi
Name:GABRA6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000145863.10
HGNCiHGNC:4080 GABRA6
MIMi137143 gene
neXtProtiNX_Q16445

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 domaini20 – 242ExtracellularCuratedAdd BLAST223
Transmembranei243 – 264HelicalCuratedAdd BLAST22
Transmembranei269 – 290HelicalCuratedAdd BLAST22
Transmembranei301 – 324HelicalCuratedAdd BLAST24
Topological domaini325 – 419CytoplasmicCuratedAdd BLAST95
Transmembranei420 – 441HelicalCuratedAdd BLAST22

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2559
OpenTargetsiENSG00000145863
PharmGKBiPA28494

Chemistry databases

ChEMBLiCHEMBL2579
DrugBankiDB00659 Acamprosate
DB06579 Adipiplon
DB00404 Alprazolam
DB01351 Amobarbital
DB00543 Amoxapine
DB01352 Aprobarbital
DB01483 Barbital
DB01496 Barbituric acid derivative
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB01353 Butethal
DB00475 Chlordiazepoxide
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01205 Flumazenil
DB01544 Flunitrazepam
DB00690 Flurazepam
DB05087 Ganaxolone
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB01354 Heptabarbital
DB01355 Hexobarbital
DB00753 Isoflurane
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB00849 Methylphenobarbital
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB00418 Secobarbital
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00599 Thiopental
DB00273 Topiramate
DB00897 Triazolam
GuidetoPHARMACOLOGYi409

Polymorphism and mutation databases

BioMutaiGABRA6
DMDMi126302548

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000000044720 – 453Gamma-aminobutyric acid receptor subunit alpha-6Add BLAST434

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi31N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi128N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi141N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi156 ↔ 170By similarity
Modified residuei403PhosphothreonineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ16445
PeptideAtlasiQ16445
PRIDEiQ16445

PTM databases

iPTMnetiQ16445
PhosphoSitePlusiQ16445

Expressioni

Gene expression databases

BgeeiENSG00000145863
CleanExiHS_GABRA6
ExpressionAtlasiQ16445 baseline and differential
GenevisibleiQ16445 HS

Organism-specific databases

HPAiCAB022462
HPA019188
HPA058329

Interactioni

Subunit structurei

Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.By similarity

Protein-protein interaction databases

BioGridi10883314 interactors.
IntActiQ16445 1 interactor.
STRINGi9606.ENSP00000274545

Chemistry databases

BindingDBiQ16445

Structurei

3D structure databases

ProteinModelPortaliQ16445
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642 Eukaryota
ENOG410XNQG LUCA
GeneTreeiENSGT00760000119010
HOGENOMiHOG000231337
HOVERGENiHBG051707
InParanoidiQ16445
KOiK05175
OMAiLQTQRAM
OrthoDBiEOG091G0805
PhylomeDBiQ16445
TreeFamiTF315453

Family and domain databases

Gene3Di2.70.170.101 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR001390 GABAAa_rcpt
IPR005436 GABBAa6_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
PRINTSiPR01079 GABAARALPHA
PR01619 GABAARALPHA6
PR00253 GABAARECEPTR
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.

Q16445-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASSLPWLCI ILWLENALGK LEVEGNFYSE NVSRILDNLL EGYDNRLRPG
60 70 80 90 100
FGGAVTEVKT DIYVTSFGPV SDVEMEYTMD VFFRQTWTDE RLKFGGPTEI
110 120 130 140 150
LSLNNLMVSK IWTPDTFFRN GKKSIAHNMT TPNKLFRIMQ NGTILYTMRL
160 170 180 190 200
TINADCPMRL VNFPMDGHAC PLKFGSYAYP KSEIIYTWKK GPLYSVEVPE
210 220 230 240 250
ESSSLLQYDL IGQTVSSETI KSNTGEYVIM TVYFHLQRKM GYFMIQIYTP
260 270 280 290 300
CIMTVILSQV SFWINKESVP ARTVFGITTV LTMTTLSISA RHSLPKVSYA
310 320 330 340 350
TAMDWFIAVC FAFVFSALIE FAAVNYFTNL QTQKAKRKAQ FAAPPTVTIS
360 370 380 390 400
KATEPLEAEI VLHPDSKYHL KKRITSLSLP IVSSSEANKV LTRAPILQST
410 420 430 440 450
PVTPPPLSPA FGGTSKIDQY SRILFPVAFA GFNLVYWVVY LSKDTMEVSS

SVE
Length:453
Mass (Da):51,024
Last modified:February 20, 2007 - v2
Checksum:i5C9F85845BC8E3B0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti408S → P in AAB36480 (PubMed:8632757).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036033180P → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036782187T → M. Corresponds to variant dbSNP:rs3811993Ensembl.1
Natural variantiVAR_036783404P → S. Corresponds to variant dbSNP:rs34907804Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S81944 mRNA Translation: AAB36480.1
AK289461 mRNA Translation: BAF82150.1
CH471062 Genomic DNA Translation: EAW61542.1
BC096241 mRNA Translation: AAH96241.1
BC096242 mRNA Translation: AAH96242.1
BC099640 mRNA Translation: AAH99640.1
BC099641 mRNA Translation: AAH99641.1
CCDSiCCDS4356.1
RefSeqiNP_000802.2, NM_000811.2
UniGeneiHs.90791

Genome annotation databases

EnsembliENST00000274545; ENSP00000274545; ENSG00000145863
GeneIDi2559
KEGGihsa:2559
UCSCiuc003lyu.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGBRA6_HUMAN
AccessioniPrimary (citable) accession number: Q16445
Secondary accession number(s): A8K096, Q4VAV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 20, 2007
Last modified: March 28, 2018
This is version 165 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