ID   GBRG1_HUMAN             Reviewed;         465 AA.
AC   Q8N1C3; Q5H9T8;
DT   17-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT   14-OCT-2008, sequence version 2.
DT   25-NOV-2008, entry version 63.
DE   RecName: Full=Gamma-aminobutyric acid receptor subunit gamma-1;
DE   AltName: Full=GABA(A) receptor subunit gamma-1;
DE   Flags: Precursor;
GN   Name=GABRG1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Amygdala;
RG   The German cDNA consortium;
RL   Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLU-403.
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: GABA, the major inhibitory neurotransmitter in the
CC       vertebrate brain, mediates neuronal inhibition by binding to the
CC       GABA/benzodiazepine receptor and opening an integral chloride
CC       channel.
CC   -!- SUBUNIT: Generally pentameric. There are five types of GABA(A)
CC       receptor chains: alpha, beta, gamma, delta, and rho.
CC   -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
CC       membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
CC       membrane protein.
CC   -!- PTM: May be palmitoylated (By similarity).
CC   -!- MISCELLANEOUS: This subunit carries the benzodiazepine binding
CC       site.
CC   -!- SIMILARITY: Belongs to the ligand-gated ionic channel (TC 1.A.9)
CC       family.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue
CC       56 of March 2005;
CC       URL="http://www.expasy.org/spotlight/back_issues/sptlt056.shtml";
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DR   EMBL; AK122845; BAG53758.1; -; mRNA.
DR   EMBL; CR933628; CAI45936.1; -; mRNA.
DR   EMBL; CH471069; EAW93021.1; -; Genomic_DNA.
DR   EMBL; BC031087; AAH31087.1; -; mRNA.
DR   RefSeq; NP_775807.2; -.
DR   UniGene; Hs.375051; -.
DR   PhosphoSite; Q8N1C3; -.
DR   Ensembl; ENSG00000163285; Homo sapiens.
DR   GeneID; 2565; -.
DR   KEGG; hsa:2565; -.
DR   HGNC; HGNC:4086; GABRG1.
DR   MIM; 137166; gene.
DR   PharmGKB; PA28500; -.
DR   HOGENOM; Q8N1C3; -.
DR   HOVERGEN; Q8N1C3; -.
DR   ArrayExpress; Q8N1C3; -.
DR   CleanEx; HS_GABRG1; -.
DR   GermOnline; ENSG00000163285; Homo sapiens.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0016021; C:integral to membrane; IEA:InterPro.
DR   GO; GO:0045211; C:postsynaptic membrane; IEA:InterPro.
DR   GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW.
DR   GO; GO:0031404; F:chloride ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0005230; F:extracellular ligand-gated ion channel acti...; IEA:InterPro.
DR   GO; GO:0004890; F:GABA-A receptor activity; IEA:InterPro.
DR   GO; GO:0030594; F:neurotransmitter receptor activity; IEA:InterPro.
DR   GO; GO:0006821; P:chloride transport; IEA:InterPro.
DR   GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IEA:InterPro.
DR   InterPro; IPR006028; GABAA_rcpt.
DR   InterPro; IPR005438; GABBAg1_rcpt.
DR   InterPro; IPR005437; GABBAg_rcpt.
DR   InterPro; IPR006029; Neu_channel_TM.
DR   InterPro; IPR006202; Neur_chan_lig_bd.
DR   InterPro; IPR006201; Neur_channel.
DR   Gene3D; G3DSA:2.70.170.10; Neur_chan_lig_bd; 1.
DR   PANTHER; PTHR18945; Neur_channel; 1.
DR   Pfam; PF02931; Neur_chan_LBD; 1.
DR   Pfam; PF02932; Neur_chan_memb; 1.
DR   PRINTS; PR00253; GABAARECEPTR.
DR   PRINTS; PR01620; GABAARGAMMA.
DR   PRINTS; PR01621; GABAARGAMMA1.
DR   PRINTS; PR00252; NRIONCHANNEL.
DR   TIGRFAMs; TIGR00860; LIC; 1.
DR   PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE   2: Evidence at transcript level;
KW   Cell junction; Cell membrane; Chloride; Chloride channel;
KW   Glycoprotein; Ion transport; Ionic channel; Lipoprotein; Membrane;
KW   Palmitate; Polymorphism; Postsynaptic cell membrane; Signal; Synapse;
KW   Transmembrane; Transport.
FT   SIGNAL        1     35       Potential.
FT   CHAIN        36    465       Gamma-aminobutyric acid receptor subunit
FT                                gamma-1.
FT                                /FTId=PRO_0000000473.
FT   TOPO_DOM     36    272       Extracellular (Probable).
FT   TRANSMEM    273    294       Probable.
FT   TRANSMEM    299    320       Probable.
FT   TRANSMEM    332    354       Probable.
FT   TOPO_DOM    355    444       Cytoplasmic (Probable).
FT   TRANSMEM    445    465       Probable.
FT   CARBOHYD     50     50       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    127    127       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    245    245       N-linked (GlcNAc...) (Potential).
FT   DISULFID    188    202       By similarity.
FT   VARIANT     403    403       G -> E (in dbSNP:rs17852913).
FT                                /FTId=VAR_047056.
SQ   SEQUENCE   465 AA;  53595 MW;  6C322FF55704FA57 CRC64;
     MGPLKAFLFS PFLLRSQSRG VRLVFLLLTL HLGNCVDKAD DEDDEDLTVN KTWVLAPKIH
     EGDITQILNS LLQGYDNKLR PDIGVRPTVI ETDVYVNSIG PVDPINMEYT IDIIFAQTWF
     DSRLKFNSTM KVLMLNSNMV GKIWIPDTFF RNSRKSDAHW ITTPNRLLRI WNDGRVLYTL
     RLTINAECYL QLHNFPMDEH SCPLEFSSYG YPKNEIEYKW KKPSVEVADP KYWRLYQFAF
     VGLRNSTEIT HTISGDYVIM TIFFDLSRRM GYFTIQTYIP CILTVVLSWV SFWINKDAVP
     ARTSLGITTV LTMTTLSTIA RKSLPKVSYV TAMDLFVSVC FIFVFAALME YGTLHYFTSN
     QKGKTATKDR KLKNKASMTP GLHPGSTLIP MNNISVPQED DYGYQCLEGK DCASFFCCFE
     DCRTGSWREG RIHIRIAKID SYSRIFFPTA FALFNLVYWV GYLYL
//