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O14764

- GBRD_HUMAN

UniProt

O14764 - GBRD_HUMAN

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Protein

Gamma-aminobutyric acid receptor subunit delta

Gene

GABRD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. chloride channel activity Source: UniProtKB-KW
  2. extracellular ligand-gated ion channel activity Source: InterPro
  3. GABA-A receptor activity Source: ProtInc

GO - Biological processi

  1. signal transduction Source: ProtInc
  2. synaptic transmission Source: Ensembl
  3. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4084. GABRD.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini17 – 248232ExtracellularCuratedAdd
BLAST
Transmembranei249 – 27123HelicalCuratedAdd
BLAST
Transmembranei275 – 29723HelicalCuratedAdd
BLAST
Transmembranei309 – 33123HelicalCuratedAdd
BLAST
Topological domaini332 – 42998CytoplasmicCuratedAdd
BLAST
Transmembranei430 – 45223HelicalCuratedAdd
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. integral component of plasma membrane Source: ProtInc
  4. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

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) [MIM:613060]: A 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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771E → A in GEFS+5; reduced receptor current amplitudes. 1 Publication
VAR_043151
Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti220 – 2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. 2 Publications
Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
VAR_043153
Juvenile myoclonic epilepsy 7 (EJM7) [MIM:613060]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti220 – 2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. 2 Publications
Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
VAR_043153

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1616Sequence AnalysisAdd
BLAST
Chaini17 – 452436Gamma-aminobutyric acid receptor subunit deltaPRO_0000000468Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi103 – 1031N-linked (GlcNAc...)Sequence Analysis
Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi164 ↔ 178By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO14764.
PRIDEiO14764.

PTM databases

PhosphoSiteiO14764.

Expressioni

Gene expression databases

BgeeiO14764.
CleanExiHS_GABRD.
GenevestigatoriO14764.

Organism-specific databases

HPAiHPA044371.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108837. 3 interactions.
IntActiO14764. 2 interactions.
MINTiMINT-1461496.
STRINGi9606.ENSP00000367848.

Structurei

3D structure databases

ProteinModelPortaliO14764.
SMRiO14764. Positions 41-451.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG308574.
GeneTreeiENSGT00760000118821.
HOGENOMiHOG000231335.
HOVERGENiHBG051707.
InParanoidiO14764.
KOiK05184.
OMAiEYTMTVF.
OrthoDBiEOG712TVZ.
PhylomeDBiO14764.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR008098. GABAAd_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01722. GABAARDELTA.
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.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771E → A in GEFS+5; reduced receptor current amplitudes. 1 Publication
VAR_043151
Natural varianti220 – 2201R → C in a GEFS+ family; does not affect receptor current amplitudes; unknown pathological significance. 1 Publication
Corresponds to variant rs139300921 [ dbSNP | Ensembl ].
VAR_043152
Natural varianti220 – 2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. 2 Publications
Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
VAR_043153

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF016917 mRNA. Translation: AAB70007.1.
AL391845 Genomic DNA. Translation: CAI15436.1.
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.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF016917 mRNA. Translation: AAB70007.1 .
AL391845 Genomic DNA. Translation: CAI15436.1 .
BC033801 mRNA. Translation: AAH33801.1 .
CCDSi CCDS36.1.
RefSeqi NP_000806.2. NM_000815.4.
UniGenei Hs.113882.

3D structure databases

ProteinModelPortali O14764.
SMRi O14764. Positions 41-451.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108837. 3 interactions.
IntActi O14764. 2 interactions.
MINTi MINT-1461496.
STRINGi 9606.ENSP00000367848.

Chemistry

ChEMBLi CHEMBL2093872.
DrugBanki DB00659. 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.
DB00189. Ethchlorvynol.
DB00292. Etomidate.
DB01567. Fludiazepam.
DB01205. Flumazenil.
DB00690. Flurazepam.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB00753. Isoflurane.
DB01587. Ketazolam.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.
GuidetoPHARMACOLOGYi 416.

PTM databases

PhosphoSitei O14764.

Proteomic databases

PaxDbi O14764.
PRIDEi O14764.

Protocols and materials databases

DNASUi 2563.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378585 ; ENSP00000367848 ; ENSG00000187730 .
GeneIDi 2563.
KEGGi hsa:2563.
UCSCi uc001aip.2. human.

Organism-specific databases

CTDi 2563.
GeneCardsi GC01P001950.
HGNCi HGNC:4084. GABRD.
HPAi HPA044371.
MIMi 137163. gene.
613060. phenotype.
neXtProti NX_O14764.
Orphaneti 1606. 1p36 deletion syndrome.
36387. Generalized epilepsy with febrile seizures-plus.
307. Juvenile myoclonic epilepsy.
PharmGKBi PA28498.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG308574.
GeneTreei ENSGT00760000118821.
HOGENOMi HOG000231335.
HOVERGENi HBG051707.
InParanoidi O14764.
KOi K05184.
OMAi EYTMTVF.
OrthoDBi EOG712TVZ.
PhylomeDBi O14764.
TreeFami TF315453.

Miscellaneous databases

GeneWikii GABRD.
GenomeRNAii 2563.
NextBioi 10127.
PROi O14764.
SOURCEi Search...

Gene expression databases

Bgeei O14764.
CleanExi HS_GABRD.
Genevestigatori O14764.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_rcpt.
IPR008098. GABAAd_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR01722. GABAARDELTA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Day T.M., Hartnett C., Blankenbiller K., Ramabhadran T.V.
    Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-220.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. "GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies."
    Dibbens L.M., Feng H.-J., Richards M.C., Harkin L.A., Hodgson B.L., Scott D., Jenkins M., Petrou S., Sutherland G.R., Scheffer I.E., Berkovic S.F., Macdonald R.L., Mulley J.C.
    Hum. Mol. Genet. 13:1315-1319(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GEFS+5 ALA-177, VARIANTS CYS-220 AND HIS-220, CHARACTERIZATION OF VARIANT GEFS+5 ALA-177, CHARACTERIZATION OF VARIANTS CYS-220 AND HIS-220.

Entry informationi

Entry nameiGBRD_HUMAN
AccessioniPrimary (citable) accession number: O14764
Secondary accession number(s): Q8N4N9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 15, 2005
Last modified: November 26, 2014
This is version 141 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 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3