Gamma-aminobutyric acid receptor subunit alpha-1 precursor

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Reviewed, UniProtKB/Swiss-Prot P14867 (GBRA1_HUMAN)

Last modified June 16, 2009. Version 108. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-1
Alternative name(s):
GABA(A) receptor subunit alpha-1

Gene names

Name:

GABRA1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	456 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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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	Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
Subcellular location	Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Involvement in disease	Defects in GABRA1 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is 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. Ref.4 Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. ECA4 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood. Ref.5
Sequence similarities	Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [View classification]

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Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Disease	Disease mutation Epilepsy
Domain	Signal Transmembrane
Ligand	Chloride
Molecular function	Chloride channel Ionic channel
PTM	Disulfide bond Glycoprotein Phosphoprotein
Gene Ontology (GO)
Biological process	chloride transport Inferred from electronic annotation. Source: InterPro gamma-aminobutyric acid signaling pathway Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	GABA-A receptor activity Ref.1 Traceable author statement. Source: ProtInc chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW chloride ion binding Inferred from electronic annotation. Source: UniProtKB-KW extracellular ligand-gated ion channel activity Inferred from electronic annotation. Source: InterPro neurotransmitter receptor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 27

Potential

Chain

28 – 456

429

Gamma-aminobutyric acid receptor subunit alpha-1

PRO_0000000428

Regions

Topological domain

28 – 251

224

Extracellular Probable

Transmembrane

252 – 273

Probable

Transmembrane

279 – 300

Probable

Transmembrane

313 – 334

Probable

Topological domain

335 – 421

Cytoplasmic Probable

Transmembrane

422 – 443

Probable

Amino acid modifications

Modified residue

368

Phosphotyrosine By similarity

Modified residue

375

Phosphotyrosine By similarity

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

138

N-linked (GlcNAc...) Potential

Disulfide bond

166 ↔ 180

By similarity

Natural variations

Natural variant

322

A → D in EJM. Ref.4

VAR_013642

Experimental info

Sequence conflict

122

W → R in CAA32874. Ref.1

Sequence conflict

128 – 140

Missing in CAA31925. Ref.3

Sequence conflict

204

R → H in CAA31925. Ref.3

Sequence conflict

315

W → WDW Ref.3

Sequence conflict

362 – 364

IKK → FPN Ref.3

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Sequences

Sequence

Length

Mass (Da)

Tools

P14867-1 [UniParc].

Last modified January 17, 2003. Version 3.
Checksum: F81EC9ECBE64E94D
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FASTA

456

51,802

        10         20         30         40         50         60 
MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL DGYDNRLRPG 

        70         80         90        100        110        120 
LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE RLKFKGPMTV LRLNNLMASK 

       130        140        150        160        170        180 
IWTPDTFFHN GKKSVAHNMT MPNKLLRITE DGTLLYTMRL TVRAECPMHL EDFPMDAHAC 

       190        200        210        220        230        240 
PLKFGSYAYT RAEVVYEWTR EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM 

       250        260        270        280        290        300 
TTHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 

       310        320        330        340        350        360 
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV PEKPKKVKDP 

       370        380        390        400        410        420 
LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV KPETKPPEPK KTFNSVSKID 

       430        440        450 
RLSRIAFPLL FGIFNLVYWA TYLNREPQLK APTPHQ

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 2465923] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"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: 2847710] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-364. Tissue: Cerebellum.
[4]	"Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy." Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.-M., Carmant L., Verner A., Lu W.-Y., Tian Wang Y., Rouleau G.A. Nat. Genet. 31:184-189(2002) [PubMed: 11992121] [Abstract] Cited for: VARIANT EJM ASP-322.
[5]	"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: 16718694] [Abstract] Cited for: INVOLVEMENT IN ECA4.
+	Additional computationally mapped references.

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Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

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Cross-references

Sequence databases
	X13584 mRNA. Translation: CAA31925.1. BC030696 mRNA. Translation: AAH30696.1. X14766 mRNA. Translation: CAA32874.1.
IPI	IPI00295235.
PIR	A31588. A60652.
RefSeq	NP_000797.2. NP_001121115.1. NP_001121116.1. NP_001121117.1. NP_001121118.1. NP_001121119.1. NP_001121120.1.
UniGene	Hs.175934
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	P14867.
Proteomic databases
PRIDE	P14867.
Genome annotation databases
Ensembl	ENSG00000022355. Homo sapiens. [Contig view]
GeneID	2554.
KEGG	hsa:2554.
Organism-specific databases
GeneCards	GC05P161206.
H-InvDB	HIX0005383.
HGNC	HGNC:4075. GABRA1.
HPA	CAB001963.
MIM	137160. gene. 606904. phenotype. 611136. phenotype.
Orphanet	307. Juvenile myoclonic epilepsy.
PharmGKB	PA28489.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P14867.
HOVERGEN	P14867.
OMA	P14867. PNIARDP.
Gene expression databases
ArrayExpress	P14867.
Bgee	P14867.
CleanEx	HS_GABRA1.
GermOnline	ENSG00000022355. Homo sapiens.
Family and domain databases
InterPro	IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005431. GABBAa1_rcpt. IPR006029. Neu_channel_TM. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. IPR018000. Neurotransmitter_ion_chnl_CS. [Graphical view]
Gene3D	G3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.
PANTHER	PTHR18945. Neur_channel. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR01079. GABAARALPHA. PR01614. GABAARALPHA1. PR00253. GABAARECEPTR. PR00252. NRIONCHANNEL.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	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.
NextBio	10087.
SOURCE	Search...

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Entry information

Entry name

GBRA1_HUMAN

Accession

Primary (citable) accession number: P14867
Secondary accession number(s): Q8N629

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	January 17, 2003
Last modified:	June 16, 2009
This is version 108 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents