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Protein

Gamma-aminobutyric acid receptor subunit alpha-4

Gene

GABRA4

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

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-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
MIMi137141 gene
neXtProtiNX_P48169

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
ProteomicsDBi55870
TopDownProteomicsiP48169

PTM databases

iPTMnetiP48169
PhosphoSitePlusiP48169

Expressioni

Inductioni

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

Gene expression databases

BgeeiENSG00000109158 Expressed in 89 organ(s), highest expression level in caudate nucleus
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
ComplexPortaliCPX-2953 GABA-A receptor, alpha-4/beta-2/delta
CPX-2954 GABA-A receptor, alpha-4/beta-3/delta
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
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
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

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RB66D6RB66_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA4
36Annotation score:
D6R924D6R924_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA4
36Annotation score:

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

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
ComplexPortaliCPX-2953 GABA-A receptor, alpha-4/beta-2/delta
CPX-2954 GABA-A receptor, alpha-4/beta-3/delta
IntActiP48169, 1 interactor
STRINGi9606.ENSP00000264318

Chemistry databases

BindingDBiP48169
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

PTM databases

iPTMnetiP48169
PhosphoSitePlusiP48169

Polymorphism and mutation databases

BioMutaiGABRA4
DMDMi206729865

Proteomic databases

PaxDbiP48169
PeptideAtlasiP48169
PRIDEiP48169
ProteomicsDBi55870
TopDownProteomicsiP48169

Protocols and materials databases

DNASUi2557
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264318; ENSP00000264318; ENSG00000109158
GeneIDi2557
KEGGihsa:2557

Organism-specific databases

CTDi2557
DisGeNETi2557
EuPathDBiHostDB:ENSG00000109158.10
GeneCardsiGABRA4
HGNCiHGNC:4078 GABRA4
MIMi137141 gene
neXtProtiNX_P48169
OpenTargetsiENSG00000109158
PharmGKBiPA28492
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiGABRA4 human
GeneWikiiGABRA4
GenomeRNAii2557
PROiPR:P48169
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109158 Expressed in 89 organ(s), highest expression level in caudate nucleus
CleanExiHS_GABRA4
ExpressionAtlasiP48169 baseline and differential
GenevisibleiP48169 HS

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
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
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
ProtoNetiSearch...

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: October 10, 2018
This is version 174 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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