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Protein

Gamma-aminobutyric acid receptor subunit alpha-6

Gene

GABRA6

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

  • gamma-aminobutyric acid signaling pathway Source: InterPro
  • ion transmembrane transport Source: Reactome
  • signal transduction Source: ProtInc
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000145863-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 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

HGNCiHGNC:4080. GABRA6.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
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.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
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...)Sequence analysis1
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Glycosylationi141N-linked (GlcNAc...)Sequence 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

BioGridi108833. 12 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.
OMAiPWLYIIL.
OrthoDBiEOG091G0805.
PhylomeDBiQ16445.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005436. GABBAa6_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]
PRINTSiPR01079. GABAARALPHA.
PR01619. GABAARALPHA6.
PR00253. GABAARECEPTR.
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.

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 rs3811993dbSNPEnsembl.1
Natural variantiVAR_036783404P → S.Corresponds to variant rs34907804dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

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.

3D structure databases

ProteinModelPortaliQ16445.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108833. 12 interactors.
IntActiQ16445. 1 interactor.
STRINGi9606.ENSP00000274545.

Chemistry databases

BindingDBiQ16445.
ChEMBLiCHEMBL2579.
DrugBankiDB00659. Acamprosate.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
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.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00599. Thiopental.
DB00273. Topiramate.
DB00897. Triazolam.
GuidetoPHARMACOLOGYi409.

PTM databases

iPTMnetiQ16445.
PhosphoSitePlusiQ16445.

Polymorphism and mutation databases

BioMutaiGABRA6.
DMDMi126302548.

Proteomic databases

PaxDbiQ16445.
PeptideAtlasiQ16445.
PRIDEiQ16445.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2559.
DisGeNETi2559.
GeneCardsiGABRA6.
H-InvDBHIX0005382.
HGNCiHGNC:4080. GABRA6.
HPAiCAB022462.
HPA019188.
HPA058329.
MIMi137143. gene.
neXtProtiNX_Q16445.
OpenTargetsiENSG00000145863.
PharmGKBiPA28494.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000145863-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

GeneWikiiGABRA6.
GenomeRNAii2559.
PROiQ16445.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145863.
CleanExiHS_GABRA6.
ExpressionAtlasiQ16445. baseline and differential.
GenevisibleiQ16445. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005436. GABBAa6_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]
PRINTSiPR01079. GABAARALPHA.
PR01619. GABAARALPHA6.
PR00253. GABAARECEPTR.
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 nameiGBRA6_HUMAN
AccessioniPrimary (citable) accession number: Q16445
Secondary accession number(s): A8K096, Q4VAV2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 20, 2007
Last modified: November 30, 2016
This is version 154 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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.