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UniProtKB/Swiss-Prot entry P48169


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

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Entry information
Entry name GBRA4_HUMAN
Primary accession number P48169
Secondary accession number Q8IYR7
Integrated into Swiss-Prot on February 1, 1996
Sequence was last modified on September 23, 2008 (Sequence version 2)
Annotations were last modified on    September 23, 2008 (Entry version 84)
Name and origin of the protein
Protein name Gamma-aminobutyric acid receptor subunit alpha-4 [Precursor]
Synonym GABA(A) receptor subunit alpha-4
Gene name
Name: GABRA4
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND INDUCTION.
TISSUE=Brain cortex;
DOI=10.1016/0922-4106(95)90072-1; PubMed=8719416 [NCBI, ExPASy, EBI, Israel, Japan]
Yang W., Drewe J.A., Lan N.C.;
"Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site.";
Eur. J. Pharmacol. 291:319-325(1995).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03466; PubMed=15815621 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
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).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-57.
DOI=10.1016/0888-7543(95)80178-O; PubMed=7607683 [NCBI, ExPASy, EBI, Israel, Japan]
McLean P.J., Farb D.H., Russek S.J.;
"Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster.";
Genomics 26:580-586(1995).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-140 AND SER-142, AND MASS SPECTROMETRY.
DOI=10.1074/mcp.M700120-MCP200; PubMed=17693683 [NCBI, ExPASy, EBI, Israel, Japan]
Tang L.-Y., Deng N., Wang L.-S., Dai J., Wang Z.-L., Jiang X.-S., Li S.-J., Li L., Sheng Q.-H., Wu D.-Q., Li L., Zeng R.;
"Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction.";
Mol. Cell. Proteomics 6:1952-1967(2007).
[8]
VARIANT [LARGE SCALE ANALYSIS] ARG-516.
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
U30461; AAB52519.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK090780; BAG52228.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC107383; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
CH471069; EAW93029.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC035055; AAH35055.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U20166; AAA74743.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR G01928; G01928.
RefSeq NP_000800.2; -.
UniGene Hs.248112
3D structure databases
ModBase P48169.
Organism-specific databases
HGNC HGNC:4078; GABRA4.
GenAtlas GABRA4.
MIM 137141; gene. [NCBI / EBI]
PharmGKB PA28492; -.
GeneCards P48169.
Gene expression databases
ArrayExpress P48169; -.
CleanEx HS_GABRA4; -.
GermOnline ENSG00000109158; 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:0007214; Biological process: gamma-aminobutyric acid signaling pathway (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.
IPR005434; GABBAa4_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.
PR01617; GABAARALPHA4.
PR00253; GABAARECEPTR.
PR00252; NRIONCHANNEL.
TIGRFAMs TIGR00860; LIC; 1.
PROSITE PS00236; NEUROTR_ION_CHANNEL; 1.
BLOCKS P48169.
Genome annotation databases
Ensembl ENSG00000109158; Homo sapiens. [Contig view]
GeneID 2557; -.
KEGG hsa:2557; -.
Phylogenomic databases
HOGENOM P48169; -.
HOVERGEN P48169; -.
Other
DrugBank DB00404; Alprazolam.
DB00189; Ethchlorvynol.
DB01544; Flunitrazepam.
DB00690; Flurazepam.
DB00186; Lorazepam.
DB00371; Meprobamate.
DB00683; Midazolam.
SOURCE GABRA4; Homo sapiens.
ProtoNet P48169.
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; Phosphoprotein; 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    35  35     Potential. 
CHAIN   36   554  519     Gamma-aminobutyric acid receptor subunit alpha-4. PRO_0000000441
TOPO_DOM   36   258  223     Extracellular (Probable). 
TRANSMEM   259   280  22     Probable. 
TRANSMEM   285   306  22     Probable. 
TRANSMEM   318   340  23     Probable. 
TOPO_DOM   341   523  183     Cytoplasmic (Probable). 
TRANSMEM   524   543  20     Probable. 
MOD_RES   140   140        Phosphoserine. 
MOD_RES   142   142        Phosphoserine. 
CARBOHYD   47    47        N-linked (GlcNAc...) (Potential). 
CARBOHYD   144   144        N-linked (GlcNAc...) (Potential). 
CARBOHYD   157   157        N-linked (GlcNAc...) (Potential). 
DISULFID   172   186        By similarity. 
VARIANT   19    19  1     A -> T (in dbSNP:rs16859837 [NCBI]). VAR_046552 
VARIANT   26    26  1     L -> M (in dbSNP:rs2229940 [NCBI]). VAR_046553 
VARIANT   516   516  1     S -> R (in a breast cancer sample; somatic mutation). VAR_036032 
CONFLICT   316   316        A -> L (in Ref. 1; AAB52519). 
CONFLICT   379   379        N -> D (in Ref. 1; AAB52519). 
CONFLICT   463   463        Y -> H (in Ref. 1; AAB52519). 
Sequence information
Length: 554 AA [This is the length of the unprocessed precursor] Molecular weight: 61623 Da [This is the MW of the unprocessed precursor] CRC64: B159F9934FB02390 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MVSAKKVPAI ALSAGVSFAL LRFLCLAVCL NESPGQNQKE EKLCTENFTR ILDSLLDGYD 

        70         80         90        100        110        120 
NRLRPGFGGP VTEVKTDIYV TSFGPVSDVE MEYTMDVFFR QTWIDKRLKY DGPIEILRLN 

       130        140        150        160        170        180 
NMMVTKVWTP DTFFRNGKKS VSHNMTAPNK LFRIMRNGTI LYTMRLTISA ECPMRLVDFP 

       190        200        210        220        230        240 
MDGHACPLKF GSYAYPKSEM IYTWTKGPEK SVEVPKESSS LVQYDLIGQT VSSETIKSIT 

       250        260        270        280        290        300 
GEYIVMTVYF HLRRKMGYFM IQTYIPCIMT VILSQVSFWI NKESVPARTV FGITTVLTMT 

       310        320        330        340        350        360 
TLSISARHSL PKVSYATAMD WFIAVCFAFV FSALIEFAAV NYFTNIQMEK AKRKTSKPPQ 

       370        380        390        400        410        420 
EVPAAPVQRE KHPEAPLQNT NANLNMRKRT NALVHSESDV GNRTEVGNHS SKSSTVVQES 

       430        440        450        460        470        480 
SKGTPRSYLA SSPNPFSRAN AAETISAARA LPSASPTSIR TGYMPRKASV GSASTRHVFG 

       490        500        510        520        530        540 
SRLQRIKTTV NTIGATGKLS ATPPPSAPPP SGSGTSKIDK YARILFPVTF GAFNMVYWVV 

       550 
YLSKDTMEKS ESLM 

P48169 in FASTA format

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