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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

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-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

EuPathDBiHostDB:ENSG00000109158.10.
HGNCiHGNC:4078. GABRA4.

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 – 258ExtracellularCuratedAdd BLAST223
Transmembranei259 – 280HelicalCuratedAdd BLAST22
Transmembranei285 – 306HelicalCuratedAdd BLAST22
Transmembranei318 – 340HelicalCuratedAdd BLAST23
Topological domaini341 – 523CytoplasmicCuratedAdd BLAST183
Transmembranei524 – 543HelicalCuratedAdd BLAST20

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.
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.

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...) asparagineSequence analysis1
Glycosylationi144N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi157N-linked (GlcNAc...) asparagineSequence 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.
OMAiPNPFSHA.
OrthoDBiEOG091G0805.
PhylomeDBiP48169.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiView protein in InterPro
IPR006028. 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.
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiView protein in Pfam
PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
PRINTSiPR01079. GABAARALPHA.
PR01617. GABAARALPHA4.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
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.

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 dbSNP:rs16859837Ensembl.1
Natural variantiVAR_04655326L → M. Corresponds to variant dbSNP:rs2229940Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiGBRA4_HUMAN
AccessioniPrimary (citable) accession number: P48169
Secondary accession number(s): Q8IYR7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: September 23, 2008
Last modified: September 27, 2017
This is version 166 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. 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