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Protein

Gamma-aminobutyric acid receptor subunit alpha-4

Gene

GABRA4

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

  • central nervous system development Source: Ensembl
  • gamma-aminobutyric acid signaling pathway Source: ProtInc
  • ion transmembrane transport Source: Reactome
  • regulation of response to drug Source: Ensembl
  • 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:ENSG00000109158-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-4
Alternative name(s):
GABA(A) receptor subunit alpha-4
Gene namesi
Name:GABRA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:4078. GABRA4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini36 – 258ExtracellularCuratedAdd BLAST223
Transmembranei259 – 280HelicalCuratedAdd BLAST22
Transmembranei285 – 306HelicalCuratedAdd BLAST22
Transmembranei318 – 340HelicalCuratedAdd BLAST23
Topological domaini341 – 523CytoplasmicCuratedAdd BLAST183
Transmembranei524 – 543HelicalCuratedAdd BLAST20

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2557.
OpenTargetsiENSG00000109158.
PharmGKBiPA28492.

Chemistry databases

ChEMBLiCHEMBL2472.
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.

Polymorphism and mutation databases

BioMutaiGABRA4.
DMDMi206729865.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000000044136 – 554Gamma-aminobutyric acid receptor subunit alpha-4Add BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi47N-linked (GlcNAc...)Sequence analysis1
Glycosylationi144N-linked (GlcNAc...)Sequence analysis1
Glycosylationi157N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi172 ↔ 186By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP48169.
PeptideAtlasiP48169.
PRIDEiP48169.
TopDownProteomicsiP48169.

PTM databases

iPTMnetiP48169.
PhosphoSitePlusiP48169.

Expressioni

Inductioni

The alpha4 beta2 gamma 2L receptor is not repressed by diazepam.1 Publication

Gene expression databases

BgeeiENSG00000109158.
CleanExiHS_GABRA4.
ExpressionAtlasiP48169. baseline and differential.
GenevisibleiP48169. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108831. 3 interactors.
IntActiP48169. 1 interactor.
STRINGi9606.ENSP00000264318.

Chemistry databases

BindingDBiP48169.

Structurei

3D structure databases

ProteinModelPortaliP48169.
SMRiP48169.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP48169.
KOiK05175.
OMAiTHANLNM.
OrthoDBiEOG091G0805.
PhylomeDBiP48169.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005434. GABBAa4_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.
PR01617. GABAARALPHA4.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
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.

P48169-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVSAKKVPAI ALSAGVSFAL LRFLCLAVCL NESPGQNQKE EKLCTENFTR
60 70 80 90 100
ILDSLLDGYD NRLRPGFGGP VTEVKTDIYV TSFGPVSDVE MEYTMDVFFR
110 120 130 140 150
QTWIDKRLKY DGPIEILRLN NMMVTKVWTP DTFFRNGKKS VSHNMTAPNK
160 170 180 190 200
LFRIMRNGTI LYTMRLTISA ECPMRLVDFP MDGHACPLKF GSYAYPKSEM
210 220 230 240 250
IYTWTKGPEK SVEVPKESSS LVQYDLIGQT VSSETIKSIT GEYIVMTVYF
260 270 280 290 300
HLRRKMGYFM IQTYIPCIMT VILSQVSFWI NKESVPARTV FGITTVLTMT
310 320 330 340 350
TLSISARHSL PKVSYATAMD WFIAVCFAFV FSALIEFAAV NYFTNIQMEK
360 370 380 390 400
AKRKTSKPPQ EVPAAPVQRE KHPEAPLQNT NANLNMRKRT NALVHSESDV
410 420 430 440 450
GNRTEVGNHS SKSSTVVQES SKGTPRSYLA SSPNPFSRAN AAETISAARA
460 470 480 490 500
LPSASPTSIR TGYMPRKASV GSASTRHVFG SRLQRIKTTV NTIGATGKLS
510 520 530 540 550
ATPPPSAPPP SGSGTSKIDK YARILFPVTF GAFNMVYWVV YLSKDTMEKS

ESLM
Length:554
Mass (Da):61,623
Last modified:September 23, 2008 - v2
Checksum:iB159F9934FB02390
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti316A → L in AAB52519 (PubMed:8719416).Curated1
Sequence conflicti379N → D in AAB52519 (PubMed:8719416).Curated1
Sequence conflicti463Y → H in AAB52519 (PubMed:8719416).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04655219A → T.Corresponds to variant rs16859837dbSNPEnsembl.1
Natural variantiVAR_04655326L → M.Corresponds to variant rs2229940dbSNPEnsembl.1
Natural variantiVAR_036032516S → R in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U30461 mRNA. Translation: AAB52519.1.
AK090780 mRNA. Translation: BAG52228.1.
AC107383 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93029.1.
BC035055 mRNA. Translation: AAH35055.1.
U20166 Genomic DNA. Translation: AAA74743.1.
CCDSiCCDS3473.1.
PIRiG01928.
RefSeqiNP_000800.2. NM_000809.3.
NP_001191195.1. NM_001204266.1.
NP_001191196.1. NM_001204267.1.
UniGeneiHs.248112.

Genome annotation databases

EnsembliENST00000264318; ENSP00000264318; ENSG00000109158.
GeneIDi2557.
KEGGihsa:2557.

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
U30461 mRNA. Translation: AAB52519.1.
AK090780 mRNA. Translation: BAG52228.1.
AC107383 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93029.1.
BC035055 mRNA. Translation: AAH35055.1.
U20166 Genomic DNA. Translation: AAA74743.1.
CCDSiCCDS3473.1.
PIRiG01928.
RefSeqiNP_000800.2. NM_000809.3.
NP_001191195.1. NM_001204266.1.
NP_001191196.1. NM_001204267.1.
UniGeneiHs.248112.

3D structure databases

ProteinModelPortaliP48169.
SMRiP48169.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108831. 3 interactors.
IntActiP48169. 1 interactor.
STRINGi9606.ENSP00000264318.

Chemistry databases

BindingDBiP48169.
ChEMBLiCHEMBL2472.
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.

PTM databases

iPTMnetiP48169.
PhosphoSitePlusiP48169.

Polymorphism and mutation databases

BioMutaiGABRA4.
DMDMi206729865.

Proteomic databases

PaxDbiP48169.
PeptideAtlasiP48169.
PRIDEiP48169.
TopDownProteomicsiP48169.

Protocols and materials databases

DNASUi2557.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264318; ENSP00000264318; ENSG00000109158.
GeneIDi2557.
KEGGihsa:2557.

Organism-specific databases

CTDi2557.
DisGeNETi2557.
GeneCardsiGABRA4.
HGNCiHGNC:4078. GABRA4.
MIMi137141. gene.
neXtProtiNX_P48169.
OpenTargetsiENSG00000109158.
PharmGKBiPA28492.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP48169.
KOiK05175.
OMAiTHANLNM.
OrthoDBiEOG091G0805.
PhylomeDBiP48169.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109158-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

GeneWikiiGABRA4.
GenomeRNAii2557.
PROiP48169.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109158.
CleanExiHS_GABRA4.
ExpressionAtlasiP48169. baseline and differential.
GenevisibleiP48169. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005434. GABBAa4_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.
PR01617. GABAARALPHA4.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGBRA4_HUMAN
AccessioniPrimary (citable) accession number: P48169
Secondary accession number(s): Q8IYR7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: September 23, 2008
Last modified: November 2, 2016
This is version 161 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 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.