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P14867

- GBRA1_HUMAN

UniProt

P14867 - GBRA1_HUMAN

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Protein
Gamma-aminobutyric acid receptor subunit alpha-1
Gene
GABRA1
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. GABA-A receptor activity Source: ProtInc
  2. chloride channel activity Source: UniProtKB-KW
  3. drug binding Source: BHF-UCL
  4. extracellular ligand-gated ion channel activity Source: InterPro

GO - Biological processi

  1. gamma-aminobutyric acid signaling pathway Source: ProtInc
  2. ion transmembrane transport Source: Reactome
  3. synaptic transmission Source: Reactome
  4. synaptic transmission, GABAergic Source: BHF-UCL
  5. transmembrane transport Source: Reactome
  6. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-1
Alternative name(s):
GABA(A) receptor subunit alpha-1
Gene namesi
Name:GABRA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:4075. GABRA1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 251224Extracellular Inferred
Add
BLAST
Transmembranei252 – 27322Helical; Inferred
Add
BLAST
Transmembranei279 – 30022Helical; Inferred
Add
BLAST
Transmembranei313 – 33422Helical; Inferred
Add
BLAST
Topological domaini335 – 42187Cytoplasmic Inferred
Add
BLAST
Transmembranei422 – 44322Helical; Inferred
Add
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Epilepsy, childhood absence 4 (ECA4) [MIM:611136]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]: 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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti322 – 3221A → D in EJM5. 1 Publication
VAR_013642

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi611136. phenotype.
Orphaneti64280. Childhood absence epilepsy.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA28489.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727 Reviewed prediction
Add
BLAST
Chaini28 – 456429Gamma-aminobutyric acid receptor subunit alpha-1
PRO_0000000428Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi38 – 381N-linked (GlcNAc...) Reviewed prediction
Glycosylationi138 – 1381N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi166 ↔ 180 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP14867.
PRIDEiP14867.

PTM databases

PhosphoSiteiP14867.

Expressioni

Gene expression databases

ArrayExpressiP14867.
BgeeiP14867.
CleanExiHS_GABRA1.
GenevestigatoriP14867.

Organism-specific databases

HPAiCAB022502.
HPA055746.

Interactioni

Subunit structurei

Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with TRAK1 By similarity.

Protein-protein interaction databases

BioGridi108828. 3 interactions.
IntActiP14867. 1 interaction.
STRINGi9606.ENSP00000023897.

Structurei

3D structure databases

ProteinModelPortaliP14867.
SMRiP14867. Positions 43-341.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG238757.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP14867.
KOiK05175.
OMAiAPNIARD.
OrthoDBiEOG7JX342.
PhylomeDBiP14867.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005431. GABBAa1_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. 2 hits.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01614. GABAARALPHA1.
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.

P14867-1 [UniParc]FASTAAdd to Basket

« Hide

MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL    50
DGYDNRLRPG LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE 100
RLKFKGPMTV LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRITE 150
DGTLLYTMRL TVRAECPMHL EDFPMDAHAC PLKFGSYAYT RAEVVYEWTR 200
EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM TTHFHLKRKI 250
GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 300
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV 350
PEKPKKVKDP LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV 400
KPETKPPEPK KTFNSVSKID RLSRIAFPLL FGIFNLVYWA TYLNREPQLK 450
APTPHQ 456
Length:456
Mass (Da):51,802
Last modified:January 17, 2003 - v3
Checksum:iF81EC9ECBE64E94D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti322 – 3221A → D in EJM5. 1 Publication
VAR_013642

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti122 – 1221W → R in CAA32874. 1 Publication
Sequence conflicti128 – 14013Missing in CAA31925. 1 Publication
Add
BLAST
Sequence conflicti204 – 2041R → H in CAA31925. 1 Publication
Sequence conflicti315 – 3151W → WDW in CAA31925. 1 Publication
Sequence conflicti362 – 3654IKKN → FPNS in CAA31925. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X14766 mRNA. Translation: CAA32874.1.
CH471062 Genomic DNA. Translation: EAW61538.1.
CH471062 Genomic DNA. Translation: EAW61539.1.
BC030696 mRNA. Translation: AAH30696.1.
X13584 mRNA. Translation: CAA31925.1.
CCDSiCCDS4357.1.
PIRiA31588.
A60652.
RefSeqiNP_000797.2. NM_000806.5.
NP_001121115.1. NM_001127643.1.
NP_001121116.1. NM_001127644.1.
NP_001121117.1. NM_001127645.1.
NP_001121120.1. NM_001127648.1.
UniGeneiHs.175934.

Genome annotation databases

EnsembliENST00000023897; ENSP00000023897; ENSG00000022355.
ENST00000393943; ENSP00000377517; ENSG00000022355.
ENST00000420560; ENSP00000408041; ENSG00000022355.
ENST00000428797; ENSP00000393097; ENSG00000022355.
ENST00000437025; ENSP00000415441; ENSG00000022355.
ENST00000444819; ENSP00000414232; ENSG00000022355.
GeneIDi2554.
KEGGihsa:2554.
UCSCiuc003lyx.4. human.

Polymorphism databases

DMDMi27808653.

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X14766 mRNA. Translation: CAA32874.1 .
CH471062 Genomic DNA. Translation: EAW61538.1 .
CH471062 Genomic DNA. Translation: EAW61539.1 .
BC030696 mRNA. Translation: AAH30696.1 .
X13584 mRNA. Translation: CAA31925.1 .
CCDSi CCDS4357.1.
PIRi A31588.
A60652.
RefSeqi NP_000797.2. NM_000806.5.
NP_001121115.1. NM_001127643.1.
NP_001121116.1. NM_001127644.1.
NP_001121117.1. NM_001127645.1.
NP_001121120.1. NM_001127648.1.
UniGenei Hs.175934.

3D structure databases

ProteinModelPortali P14867.
SMRi P14867. Positions 43-341.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108828. 3 interactions.
IntActi P14867. 1 interaction.
STRINGi 9606.ENSP00000023897.

Chemistry

BindingDBi P14867.
ChEMBLi CHEMBL1962.
DrugBanki DB00404. Alprazolam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB01353. Butethal.
DB00475. Chlordiazepoxide.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB00898. Ethanol.
DB00189. Ethchlorvynol.
DB00292. Etomidate.
DB01205. Flumazenil.
DB00690. Flurazepam.
DB00801. Halazepam.
DB01159. Halothane.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB00463. Metharbital.
DB00474. Methohexital.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01174. Phenobarbital.
DB00466. Picrotoxin.
DB01588. Prazepam.
DB00794. Primidone.
DB00837. Progabide.
DB00818. Propofol.
DB01589. Quazepam.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB01154. Thiamylal.
DB00599. Thiopental.
DB00273. Topiramate.
DB00962. Zaleplon.
DB00425. Zolpidem.
GuidetoPHARMACOLOGYi 404.

PTM databases

PhosphoSitei P14867.

Polymorphism databases

DMDMi 27808653.

Proteomic databases

PaxDbi P14867.
PRIDEi P14867.

Protocols and materials databases

DNASUi 2554.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000023897 ; ENSP00000023897 ; ENSG00000022355 .
ENST00000393943 ; ENSP00000377517 ; ENSG00000022355 .
ENST00000420560 ; ENSP00000408041 ; ENSG00000022355 .
ENST00000428797 ; ENSP00000393097 ; ENSG00000022355 .
ENST00000437025 ; ENSP00000415441 ; ENSG00000022355 .
ENST00000444819 ; ENSP00000414232 ; ENSG00000022355 .
GeneIDi 2554.
KEGGi hsa:2554.
UCSCi uc003lyx.4. human.

Organism-specific databases

CTDi 2554.
GeneCardsi GC05P161206.
HGNCi HGNC:4075. GABRA1.
HPAi CAB022502.
HPA055746.
MIMi 137160. gene.
611136. phenotype.
neXtProti NX_P14867.
Orphaneti 64280. Childhood absence epilepsy.
307. Juvenile myoclonic epilepsy.
PharmGKBi PA28489.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238757.
HOGENOMi HOG000231337.
HOVERGENi HBG051707.
InParanoidi P14867.
KOi K05175.
OMAi APNIARD.
OrthoDBi EOG7JX342.
PhylomeDBi P14867.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Miscellaneous databases

GeneWikii Gamma-aminobutyric_acid_(GABA)_A_receptor,_alpha_1.
Gamma-aminobutyric_acid_receptor_subunit_alpha-1.
GenomeRNAii 2554.
NextBioi 10087.
PROi P14867.
SOURCEi Search...

Gene expression databases

ArrayExpressi P14867.
Bgeei P14867.
CleanExi HS_GABRA1.
Genevestigatori P14867.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005431. GABBAa1_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. 2 hits.
[Graphical view ]
PRINTSi PR01079. GABAARALPHA.
PR01614. GABAARALPHA1.
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. "Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits."
    Schofield P.R., Pritchett D.B., Sontheimer H., Kettenmann H., Seeburg P.H.
    FEBS Lett. 244:361-364(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. 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. "Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor."
    Garrett K.M., Duman R.S., Saito N., Blume A.J., Vitek M.P., Tallman J.F.
    Biochem. Biophys. Res. Commun. 156:1039-1045(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-365.
    Tissue: Cerebellum.
  5. Cited for: VARIANT EJM5 ASP-322.
  6. "A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy."
    Maljevic S., Krampfl K., Cobilanschi J., Tilgen N., Beyer S., Weber Y.G., Schlesinger F., Ursu D., Melzer W., Cossette P., Bufler J., Lerche H., Heils A.
    Ann. Neurol. 59:983-987(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ECA4.

Entry informationi

Entry nameiGBRA1_HUMAN
AccessioniPrimary (citable) accession number: P14867
Secondary accession number(s): D3DQK6, Q8N629
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 17, 2003
Last modified: September 3, 2014
This is version 162 of the entry and version 3 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 5
    Human chromosome 5: 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

External Data

Dasty 3

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