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UniProtKB/Swiss-Prot entry Q16445


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name GBRA6_HUMAN
Primary accession number Q16445
Secondary accession number Q4VAV2
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on February 20, 2007 (Sequence version 2)
Annotations were last modified on    July 22, 2008 (Entry version 74)
Name and origin of the protein
Protein name Gamma-aminobutyric acid receptor subunit alpha-6 [Precursor]
Synonym GABA(A) receptor subunit alpha-6
Gene name
Name: GABRA6
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Cerebellum;
PubMed=8632757 [NCBI, ExPASy, EBI, Israel, Japan]
Hadingham K.L., Garrett E.M., Wafford K.A., Bain C., Heavens R.P., Sirinathsinghji D.J., Whiting P.J.;
"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.";
Mol. Pharmacol. 49:253-259(1996).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
VARIANT [LARGE SCALE ANALYSIS] HIS-180.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
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., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
S81944; AAB36480.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC096241; AAH96241.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC096242; AAH96242.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC099640; AAH99640.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC099641; AAH99641.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_000802.2; -.
UniGene Hs.90791
3D structure databases
ModBase Q16445.
PTM databases
PhosphoSite Q16445; -.
Organism-specific databases
H-InvDB HIX0005382; -.
HGNC HGNC:4080; GABRA6.
GenAtlas GABRA6.
MIM 137143; gene. [NCBI / EBI]
PharmGKB PA28494; -.
GeneCards Q16445.
Gene expression databases
ArrayExpress Q16445; -.
CleanEx HS_GABRA6; -.
GermOnline ENSG00000145863; Homo sapiens.
Ontologies
GO
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0008503; Molecular function: benzodiazepine receptor activity (traceable author statement from ProtInc).
GO:0007165; Biological process: signal transduction (traceable author statement from ProtInc).
GO:0006810; Biological process: transport (traceable author statement from ProtInc).
QuickGo view.
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 of domain structure.
Gene3D G3DSA:2.70.170.10; Neur_chan_lig_bd; 1.
PANTHER PTHR18945; Neur_channel; 1.
Pfam PF02931; Neur_chan_LBD; 1.
PF02932; Neur_chan_memb; 1.
Pfam graphical view of domain structure.
PRINTS PR01079; GABAARALPHA.
PR01619; GABAARALPHA6.
PR00253; GABAARECEPTR.
PR00252; NRIONCHANNEL.
TIGRFAMs TIGR00860; LIC; 1.
PROSITE PS00236; NEUROTR_ION_CHANNEL; 1.
BLOCKS Q16445.
Genome annotation databases
Ensembl ENSG00000145863; Homo sapiens. [Contig view]
GeneID 2559; -.
KEGG hsa:2559; -.
NMPDR fig|9606.3.peg.26114; -.
Phylogenomic databases
HOGENOM Q16445; -.
HOVERGEN Q16445; -.
Other
DrugBank DB00404; Alprazolam.
DB00189; Ethchlorvynol.
DB01544; Flunitrazepam.
DB00690; Flurazepam.
DB00186; Lorazepam.
DB00371; Meprobamate.
DB00683; Midazolam.
SOURCE GABRA6; Homo sapiens.
ProtoNet Q16445.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Cell junction; Cell membrane; Chloride; Chloride channel; Glycoprotein; Ion transport; Ionic channel; Membrane; Polymorphism; Postsynaptic cell membrane; Signal; Synapse; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    19  19     Potential. 
CHAIN   20   453  434     Gamma-aminobutyric acid receptor subunit alpha-6. PRO_0000000447
TOPO_DOM   20   242  223     Extracellular (Probable). 
TRANSMEM   243   264  22     Probable. 
TRANSMEM   269   290  22     Probable. 
TRANSMEM   301   324  24     Probable. 
TOPO_DOM   325   419  95     Cytoplasmic (Probable). 
TRANSMEM   420   441  22     Probable. 
CARBOHYD   31    31        N-linked (GlcNAc...) (Potential). 
CARBOHYD   128   128        N-linked (GlcNAc...) (Potential). 
CARBOHYD   141   141        N-linked (GlcNAc...) (Potential). 
DISULFID   156   170        By similarity. 
VARIANT   180   180  1     P -> H (in a colorectal cancer sample; somatic mutation). VAR_036033 
VARIANT   187   187  1     T -> M (in dbSNP:rs3811993 [NCBI]). VAR_036782 
VARIANT   404   404  1     P -> S (in dbSNP:rs34907804 [NCBI]). VAR_036783 
CONFLICT   408   408        S -> P (in Ref. 1; AAB36480). 
Sequence information
Length: 453 AA [This is the length of the unprocessed precursor] Molecular weight: 51024 Da [This is the MW of the unprocessed precursor] CRC64: 5C9F85845BC8E3B0 [This is a checksum on the sequence]
        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 

Q16445 in FASTA format

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