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O14764 (GBRD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit delta
Alternative name(s):
GABA(A) receptor subunit delta
Gene names
Name:GABRD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length452 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.4

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.

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.

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Potential
Chain17 – 452436Gamma-aminobutyric acid receptor subunit delta
PRO_0000000468

Regions

Topological domain17 – 248232Extracellular Probable
Transmembrane249 – 27123Helical; Probable
Transmembrane275 – 29723Helical; Probable
Transmembrane309 – 33123Helical; Probable
Topological domain332 – 42998Cytoplasmic Probable
Transmembrane430 – 45223Helical; Probable

Amino acid modifications

Glycosylation1031N-linked (GlcNAc...) Potential
Glycosylation1061N-linked (GlcNAc...) Potential
Disulfide bond164 ↔ 178 By similarity

Natural variations

Natural variant1771E → A in GEFS+5; reduced receptor current amplitudes. Ref.4
VAR_043151
Natural variant2201R → C in a GEFS+ family; does not affect receptor current amplitudes; unknown pathological significance. Ref.4
Corresponds to variant rs139300921 [ dbSNP | Ensembl ].
VAR_043152
Natural variant2201R → H Associated with susceptibility to EIG10 and EJM7; reduced receptor current amplitudes. Ref.1 Ref.4
Corresponds to variant rs41307846 [ dbSNP | Ensembl ].
VAR_043153

Sequences

Sequence LengthMass (Da)Tools
O14764 [UniParc].

Last modified February 15, 2005. Version 2.
Checksum: 682501DE93144CE4

FASTA45250,708
        10         20         30         40         50         60 
MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG YARNFRPGIG 

        70         80         90        100        110        120 
GPPVNVALAL EVASIDHISE ANMEYTMTVF LHQSWRDSRL SYNHTNETLG LDSRFVDKLW 

       130        140        150        160        170        180 
LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG VILYSIRITS TVACDMDLAK YPMDEQECML 

       190        200        210        220        230        240 
DLESYGYSSE DIVYYWSESQ EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH 

       250        260        270        280        290        300 
FHLRRNRGVY IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS 

       310        320        330        340        350        360 
LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP RAEMDVRNAI 

       370        380        390        400        410        420 
VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE TKKEGAARSG GQGGIRARLR 

       430        440        450 
PIDADTIDIY ARAVFPAAFA AVNVIYWAAY AM 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF016917 mRNA. Translation: AAB70007.1.
AL391845 Genomic DNA. Translation: CAI15436.1.
BC033801 mRNA. Translation: AAH33801.1.
RefSeqNP_000806.2. NM_000815.4.
UniGeneHs.113882.

3D structure databases

ProteinModelPortalO14764.
SMRO14764. Positions 41-452.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108837. 3 interactions.
IntActO14764. 2 interactions.
MINTMINT-1461496.
STRING9606.ENSP00000367848.

Chemistry

BindingDBO14764.
ChEMBLCHEMBL2093872.
GuidetoPHARMACOLOGY416.

PTM databases

PhosphoSiteO14764.

Proteomic databases

PaxDbO14764.
PRIDEO14764.

Protocols and materials databases

DNASU2563.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378585; ENSP00000367848; ENSG00000187730.
GeneID2563.
KEGGhsa:2563.
UCSCuc001aip.2. human.

Organism-specific databases

CTD2563.
GeneCardsGC01P001950.
HGNCHGNC:4084. GABRD.
HPAHPA044371.
MIM137163. gene.
613060. phenotype.
neXtProtNX_O14764.
Orphanet1606. 1p36 deletion syndrome.
36387. Generalized epilepsy with febrile seizures-plus context.
307. Juvenile myoclonic epilepsy.
PharmGKBPA28498.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308574.
HOGENOMHOG000231335.
HOVERGENHBG051707.
InParanoidO14764.
KOK05184.
OMAEYTMTVF.
OrthoDBEOG712TVZ.
PhylomeDBO14764.
TreeFamTF315453.

Gene expression databases

BgeeO14764.
CleanExHS_GABRD.
GenevestigatorO14764.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA_rcpt.
IPR008098. GABAAd_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR01722. GABAARDELTA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRD.
GenomeRNAi2563.
NextBio10127.
PROO14764.
SOURCESearch...

Entry information

Entry nameGBRD_HUMAN
AccessionPrimary (citable) accession number: O14764
Secondary accession number(s): Q8N4N9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 15, 2005
Last modified: April 16, 2014
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM