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Protein

Gamma-aminobutyric acid receptor subunit delta

Gene

GABRD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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

  • chloride channel activity Source: UniProtKB-KW
  • extracellular ligand-gated ion channel activity Source: InterPro
  • GABA-A receptor activity Source: ProtInc

GO - Biological processi

  • chemical synaptic transmission Source: Ensembl
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandChloride

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit delta
Alternative name(s):
GABA(A) receptor subunit delta
Gene namesi
Name:GABRD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000187730.7
HGNCiHGNC:4084 GABRD
MIMi137163 gene
neXtProtiNX_O14764

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 domaini17 – 248ExtracellularCuratedAdd BLAST232
Transmembranei249 – 271HelicalCuratedAdd BLAST23
Transmembranei275 – 297HelicalCuratedAdd BLAST23
Transmembranei309 – 331HelicalCuratedAdd BLAST23
Topological domaini332 – 429CytoplasmicCuratedAdd BLAST98
Transmembranei430 – 452HelicalCuratedAdd BLAST23

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 5 (GEFS+5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
See also OMIM:613060
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043151177E → A in GEFS+5; reduced receptor current amplitudes. 1 PublicationCorresponds to variant dbSNP:rs121434580Ensembl.1
Natural variantiVAR_043152220R → C in GEFS+5; unknown pathological significance; does not affect receptor current amplitudes. 1 PublicationCorresponds to variant dbSNP:rs139300921Ensembl.1
Epilepsy, idiopathic generalized 10 (EIG10)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
See also OMIM:613060
Juvenile myoclonic epilepsy 7 (EJM7)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
See also OMIM:613060

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2563
MalaCardsiGABRD
MIMi613060 phenotype
OpenTargetsiENSG00000187730
Orphaneti1606 1p36 deletion syndrome
36387 Generalized epilepsy with febrile seizures-plus
307 Juvenile myoclonic epilepsy
PharmGKBiPA28498

Chemistry databases

ChEMBLiCHEMBL3591
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB00404 Alprazolam
DB00543 Amoxapine
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB01587 Ketazolam
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

Polymorphism and mutation databases

BioMutaiGABRD

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 16Sequence analysisAdd BLAST16
ChainiPRO_000000046817 – 452Gamma-aminobutyric acid receptor subunit deltaAdd BLAST436

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi103N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi164 ↔ 178By similarity
Modified residuei390PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiO14764
PeptideAtlasiO14764
PRIDEiO14764

PTM databases

iPTMnetiO14764
PhosphoSitePlusiO14764

Expressioni

Gene expression databases

BgeeiENSG00000187730
CleanExiHS_GABRD
ExpressionAtlasiO14764 baseline and differential
GenevisibleiO14764 HS

Organism-specific databases

HPAiHPA044371

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi108837, 17 interactors
IntActiO14764, 4 interactors
STRINGi9606.ENSP00000367848

Structurei

3D structure databases

ProteinModelPortaliO14764
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3643 Eukaryota
ENOG410XPWH LUCA
GeneTreeiENSGT00760000118821
HOGENOMiHOG000231335
HOVERGENiHBG051707
InParanoidiO14764
KOiK05184
OMAiFLHQSWR
OrthoDBiEOG091G0805
PhylomeDBiO14764
TreeFamiTF315453

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR008098 GABAAd_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
PTHR18945:SF34 PTHR18945:SF34, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR01722 GABAARDELTA
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.

O14764-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG
60 70 80 90 100
YARNFRPGIG GPPVNVALAL EVASIDHISE ANMEYTMTVF LHQSWRDSRL
110 120 130 140 150
SYNHTNETLG LDSRFVDKLW LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG
160 170 180 190 200
VILYSIRITS TVACDMDLAK YPMDEQECML DLESYGYSSE DIVYYWSESQ
210 220 230 240 250
EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH FHLRRNRGVY
260 270 280 290 300
IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS
310 320 330 340 350
LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP
360 370 380 390 400
RAEMDVRNAI VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE
410 420 430 440 450
TKKEGAARSG GQGGIRARLR PIDADTIDIY ARAVFPAAFA AVNVIYWAAY

AM
Length:452
Mass (Da):50,708
Last modified:February 15, 2005 - v2
Checksum:i682501DE93144CE4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07927062P → S1 Publication1
Natural variantiVAR_043151177E → A in GEFS+5; reduced receptor current amplitudes. 1 PublicationCorresponds to variant dbSNP:rs121434580Ensembl.1
Natural variantiVAR_043152220R → C in GEFS+5; unknown pathological significance; does not affect receptor current amplitudes. 1 PublicationCorresponds to variant dbSNP:rs139300921Ensembl.1
Natural variantiVAR_043153220R → H Polymorphism; is a risk factor for epilepsy; reduced receptor current amplitudes. 2 PublicationsCorresponds to variant dbSNP:rs41307846Ensembl.1
Natural variantiVAR_078225370V → I Found in a patient with childhood onset epileptic encephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519556Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF016917 mRNA Translation: AAB70007.1
AL391845 Genomic DNA No translation available.
BC033801 mRNA Translation: AAH33801.1
CCDSiCCDS36.1
RefSeqiNP_000806.2, NM_000815.4
UniGeneiHs.113882

Genome annotation databases

EnsembliENST00000378585; ENSP00000367848; ENSG00000187730
GeneIDi2563
KEGGihsa:2563
UCSCiuc001aip.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGBRD_HUMAN
AccessioniPrimary (citable) accession number: O14764
Secondary accession number(s): Q8N4N9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 15, 2005
Last modified: March 28, 2018
This is version 173 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health