Gamma-aminobutyric acid receptor subunit alpha-6 precursor

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Reviewed, UniProtKB/Swiss-Prot Q16445 (GBRA6_HUMAN)

Last modified November 25, 2008. Version 76. 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-6
Alternative name(s):
GABA(A) receptor subunit alpha-6

Gene names

Name:

GABRA6

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	453 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript 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.
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
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane
Ligand	Chloride
Molecular function	Chloride channel Ionic channel
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	chloride transport Inferred from electronic annotation. Source: InterPro gamma-aminobutyric acid signaling pathway Inferred from electronic annotation. Source: InterPro
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: InterPro
Molecular function	GABA-A receptor activity Inferred from electronic annotation. Source: InterPro benzodiazepine 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
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 – 19

Potential

Chain

20 – 453

434

Gamma-aminobutyric acid receptor subunit alpha-6

PRO_0000000447

Regions

Topological domain

20 – 242

223

Extracellular Probable

Transmembrane

243 – 264

Probable

Transmembrane

269 – 290

Probable

Transmembrane

301 – 324

Probable

Topological domain

325 – 419

Cytoplasmic Probable

Transmembrane

420 – 441

Probable

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

128

N-linked (GlcNAc...) Potential

Glycosylation

141

N-linked (GlcNAc...) Potential

Disulfide bond

156 ↔ 170

By similarity

Natural variations

Natural variant

180

P → H in a colorectal cancer sample; somatic mutation.

VAR_036033

Natural variant

187

T → M: dbSNP rs3811993.

VAR_036782

Natural variant

404

P → S: dbSNP rs34907804.

VAR_036783

Experimental info

Sequence conflict

408

S → P in AAB36480. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

Q16445-1 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 5C9F85845BC8E3B0
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FASTA

453

51,024

        10         20         30         40         50         60 
MASSLPWLCI ILWLENALGK LEVEGNFYSE NVSRILDNLL EGYDNRLRPG FGGAVTEVKT 

        70         80         90        100        110        120 
DIYVTSFGPV SDVEMEYTMD VFFRQTWTDE RLKFGGPTEI LSLNNLMVSK IWTPDTFFRN 

       130        140        150        160        170        180 
GKKSIAHNMT TPNKLFRIMQ NGTILYTMRL TINADCPMRL VNFPMDGHAC PLKFGSYAYP 

       190        200        210        220        230        240 
KSEIIYTWKK GPLYSVEVPE ESSSLLQYDL IGQTVSSETI KSNTGEYVIM TVYFHLQRKM 

       250        260        270        280        290        300 
GYFMIQIYTP CIMTVILSQV SFWINKESVP ARTVFGITTV LTMTTLSISA RHSLPKVSYA 

       310        320        330        340        350        360 
TAMDWFIAVC FAFVFSALIE FAAVNYFTNL QTQKAKRKAQ FAAPPTVTIS KATEPLEAEI 

       370        380        390        400        410        420 
VLHPDSKYHL KKRITSLSLP IVSSSEANKV LTRAPILQST PVTPPPLSPA FGGTSKIDQY 

       430        440        450 
SRILFPVAFA GFNLVYWVVY LSKDTMEVSS SVE

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors." Hadingham K.L., Garrett E.M., Wafford K.A., Bain C., Heavens R.P., Sirinathsinghji D.J., Whiting P.J. Mol. Pharmacol. 49:253-259(1996) [PubMed: 8632757] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Cerebellum.
[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].
[3]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-180.
+	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
	S81944 mRNA. Translation: AAB36480.1. BC096241 mRNA. Translation: AAH96241.1. BC096242 mRNA. Translation: AAH96242.1. BC099640 mRNA. Translation: AAH99640.1. BC099641 mRNA. Translation: AAH99641.1.
RefSeq	NP_000802.2.
UniGene	Hs.90791
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q16445.
Genome annotation databases
Ensembl	ENSG00000145863. Homo sapiens. [Contig view]
GeneID	2559.
KEGG	hsa:2559.
NMPDR	fig\|9606.3.peg.26114.
Organism-specific databases
H-InvDB	HIX0005382.
HGNC	HGNC:4080. GABRA6.
MIM	137143. gene.
PharmGKB	PA28494.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q16445.
HOVERGEN	Q16445.
Gene expression databases
ArrayExpress	Q16445.
CleanEx	HS_GABRA6.
GermOnline	ENSG00000145863. Homo sapiens.
Family and domain databases
InterPro	IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005436. GABBAa6_rcpt. IPR006029. Neu_channel_TM. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. [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. PR01619. GABAARALPHA6. 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. DB00189. Ethchlorvynol. DB01544. Flunitrazepam. DB00690. Flurazepam. DB00186. Lorazepam. DB00371. Meprobamate. DB00683. Midazolam.
NextBio	10107.
SOURCE	Search...

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Entry information

Entry name

GBRA6_HUMAN

Accession

Primary (citable) accession number: Q16445
Secondary accession number(s): Q4VAV2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	February 20, 2007
Last modified:	November 25, 2008
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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