GBRR1_HUMAN
ID GBRR1_HUMAN Reviewed; 479 AA.
AC P24046; A1L401; B4DJK8; B4DQT5; B7ZBQ7; Q9BX06;
DT 01-MAR-1992, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 2.
DT 03-AUG-2022, entry version 197.
DE RecName: Full=Gamma-aminobutyric acid receptor subunit rho-1;
DE AltName: Full=GABA(A) receptor subunit rho-1;
DE AltName: Full=GABA(C) receptor;
DE Flags: Precursor;
GN Name=GABRR1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Retina;
RX PubMed=1849271; DOI=10.1073/pnas.88.7.2673;
RA Cutting G.R., Lu L., O'Hara B.F., Kasch L.M., Montrose-Rafizadeh C.,
RA Donovan D.M., Shimada S., Antonarakis S.E., Guggino W.B., Uhl G.R.,
RA Kazazian H.H. Jr.;
RT "Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor
RT subunit highly expressed in the retina.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:2673-2677(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP VAL-26.
RC TISSUE=Thalamus;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate
CC brain, mediates neuronal inhibition by binding to the
CC GABA/benzodiazepine receptor and opening an integral chloride channel.
CC Rho-1 GABA receptor could play a role in retinal neurotransmission.
CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor
CC chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane
CC protein. Cell membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P24046-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P24046-2; Sequence=VSP_036363;
CC Name=3;
CC IsoId=P24046-3; Sequence=VSP_046665;
CC -!- TISSUE SPECIFICITY: Highly expressed in the retina and in a lesser
CC extent in brain, lung and thymus.
CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
CC Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR1 sub-
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA52509.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI30345.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; M62400; AAA52509.1; ALT_INIT; mRNA.
DR EMBL; AK296124; BAG58870.1; -; mRNA.
DR EMBL; AK298948; BAG61047.1; -; mRNA.
DR EMBL; AL353659; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353135; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC130344; AAI30345.1; ALT_INIT; mRNA.
DR CCDS; CCDS5019.2; -. [P24046-1]
DR CCDS; CCDS59028.1; -. [P24046-3]
DR CCDS; CCDS59029.1; -. [P24046-2]
DR PIR; A38627; A38627.
DR RefSeq; NP_001243632.1; NM_001256703.1. [P24046-2]
DR RefSeq; NP_001243633.1; NM_001256704.1. [P24046-3]
DR RefSeq; NP_001254511.1; NM_001267582.1. [P24046-3]
DR RefSeq; NP_002033.2; NM_002042.4. [P24046-1]
DR RefSeq; XP_016866178.1; XM_017010689.1. [P24046-3]
DR AlphaFoldDB; P24046; -.
DR SMR; P24046; -.
DR BioGRID; 108843; 12.
DR IntAct; P24046; 1.
DR STRING; 9606.ENSP00000412673; -.
DR BindingDB; P24046; -.
DR ChEMBL; CHEMBL3561; -.
DR DrugBank; DB01567; Fludiazepam.
DR DrugBank; DB00431; Lindane.
DR DrugBank; DB00466; Picrotoxin.
DR DrugCentral; P24046; -.
DR TCDB; 1.A.9.5.5; the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.
DR GlyGen; P24046; 3 sites.
DR iPTMnet; P24046; -.
DR PhosphoSitePlus; P24046; -.
DR BioMuta; GABRR1; -.
DR DMDM; 223590210; -.
DR EPD; P24046; -.
DR MassIVE; P24046; -.
DR MaxQB; P24046; -.
DR PaxDb; P24046; -.
DR PeptideAtlas; P24046; -.
DR PRIDE; P24046; -.
DR ProteomicsDB; 54179; -. [P24046-1]
DR ProteomicsDB; 54180; -. [P24046-2]
DR ProteomicsDB; 7154; -.
DR ABCD; P24046; 4 sequenced antibodies.
DR Antibodypedia; 31856; 234 antibodies from 24 providers.
DR DNASU; 2569; -.
DR Ensembl; ENST00000369451.7; ENSP00000358463.3; ENSG00000146276.12. [P24046-3]
DR Ensembl; ENST00000435811.5; ENSP00000394687.1; ENSG00000146276.12. [P24046-2]
DR Ensembl; ENST00000454853.7; ENSP00000412673.2; ENSG00000146276.12. [P24046-1]
DR Ensembl; ENST00000611484.4; ENSP00000478846.1; ENSG00000146276.12. [P24046-3]
DR Ensembl; ENST00000621627.4; ENSP00000481986.1; ENSG00000146276.12. [P24046-3]
DR GeneID; 2569; -.
DR KEGG; hsa:2569; -.
DR MANE-Select; ENST00000454853.7; ENSP00000412673.2; NM_002042.5; NP_002033.2.
DR UCSC; uc003pna.3; human. [P24046-1]
DR CTD; 2569; -.
DR DisGeNET; 2569; -.
DR GeneCards; GABRR1; -.
DR HGNC; HGNC:4090; GABRR1.
DR HPA; ENSG00000146276; Tissue enriched (retina).
DR MIM; 137161; gene.
DR neXtProt; NX_P24046; -.
DR OpenTargets; ENSG00000146276; -.
DR PharmGKB; PA28505; -.
DR VEuPathDB; HostDB:ENSG00000146276; -.
DR eggNOG; KOG3643; Eukaryota.
DR GeneTree; ENSGT00940000158591; -.
DR HOGENOM; CLU_010920_0_1_1; -.
DR InParanoid; P24046; -.
DR OMA; SSYVSMK; -.
DR OrthoDB; 640805at2759; -.
DR PhylomeDB; P24046; -.
DR TreeFam; TF315453; -.
DR PathwayCommons; P24046; -.
DR Reactome; R-HSA-977443; GABA receptor activation.
DR SignaLink; P24046; -.
DR SIGNOR; P24046; -.
DR BioGRID-ORCS; 2569; 14 hits in 1073 CRISPR screens.
DR ChiTaRS; GABRR1; human.
DR GeneWiki; GABRR1; -.
DR GenomeRNAi; 2569; -.
DR Pharos; P24046; Tchem.
DR PRO; PR:P24046; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; P24046; protein.
DR Bgee; ENSG00000146276; Expressed in descending thoracic aorta and 49 other tissues.
DR ExpressionAtlas; P24046; baseline and differential.
DR Genevisible; P24046; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR GO; GO:1902711; C:GABA-A receptor complex; IBA:GO_Central.
DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW.
DR GO; GO:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0004890; F:GABA-A receptor activity; TAS:ProtInc.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0099507; F:ligand-gated ion channel activity involved in regulation of presynaptic membrane potential; IEA:Ensembl.
DR GO; GO:0030594; F:neurotransmitter receptor activity; IBA:GO_Central.
DR GO; GO:0019904; F:protein domain specific binding; IEA:Ensembl.
DR GO; GO:0044877; F:protein-containing complex binding; IEA:Ensembl.
DR GO; GO:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:1902476; P:chloride transmembrane transport; IBA:GO_Central.
DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; TAS:ProtInc.
DR GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0050877; P:nervous system process; IBA:GO_Central.
DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 1.20.58.390; -; 1.
DR Gene3D; 2.70.170.10; -; 1.
DR InterPro; IPR006028; GABAA/Glycine_rcpt.
DR InterPro; IPR008058; GABAAa_rho1_rcpt.
DR InterPro; IPR008057; GABAAa_rho_rcpt.
DR InterPro; IPR006202; Neur_chan_lig-bd.
DR InterPro; IPR036734; Neur_chan_lig-bd_sf.
DR InterPro; IPR006201; Neur_channel.
DR InterPro; IPR036719; Neuro-gated_channel_TM_sf.
DR InterPro; IPR038050; Neuro_actylchol_rec.
DR InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR PANTHER; PTHR18945; PTHR18945; 1.
DR Pfam; PF02931; Neur_chan_LBD; 1.
DR Pfam; PF02932; Neur_chan_memb; 1.
DR PRINTS; PR00253; GABAARECEPTR.
DR PRINTS; PR01670; GABAARRHO.
DR PRINTS; PR01671; GABAARRHO1.
DR PRINTS; PR00252; NRIONCHANNEL.
DR SUPFAM; SSF63712; SSF63712; 1.
DR SUPFAM; SSF90112; SSF90112; 1.
DR TIGRFAMs; TIGR00860; LIC; 1.
DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Chloride; Chloride channel;
KW Disulfide bond; Glycoprotein; Ion channel; Ion transport; Membrane;
KW Postsynaptic cell membrane; Reference proteome; Signal; Synapse;
KW Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..479
FT /note="Gamma-aminobutyric acid receptor subunit rho-1"
FT /id="PRO_0000000485"
FT TOPO_DOM 22..281
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 282..305
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 309..331
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 343..365
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 366..457
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 458..479
FT /note="Helical"
FT /evidence="ECO:0000305"
FT REGION 32..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 140
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 234
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 274
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 198..212
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..87
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046665"
FT VAR_SEQ 41..57
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036363"
FT VARIANT 26
FT /note="M -> V (in dbSNP:rs12200969)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_054426"
FT VARIANT 27
FT /note="H -> R (in dbSNP:rs1186902)"
FT /id="VAR_024361"
FT CONFLICT 40
FT /note="G -> GS (in Ref. 4; AAI30345)"
FT /evidence="ECO:0000305"
FT CONFLICT 424..425
FT /note="MV -> VM (in Ref. 2; BAG61047)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 479 AA; 55883 MW; C0C1985F16C18231 CRC64;
MLAVPNMRFG IFLLWWGWVL ATESRMHWPG REVHEMSKKG RPQRQRREVH EDAHKQVSPI
LRRSPDITKS PLTKSEQLLR IDDHDFSMRP GFGGPAIPVG VDVQVESLDS ISEVDMDFTM
TLYLRHYWKD ERLSFPSTNN LSMTFDGRLV KKIWVPDMFF VHSKRSFIHD TTTDNVMLRV
QPDGKVLYSL RVTVTAMCNM DFSRFPLDTQ TCSLEIESYA YTEDDLMLYW KKGNDSLKTD
ERISLSQFLI QEFHTTTKLA FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW
VSFWIDRRAV PARVPLGITT VLTMSTIITG VNASMPRVSY IKAVDIYLWV SFVFVFLSVL
EYAAVNYLTT VQERKEQKLR EKLPCTSGLP PPRTAMLDGN YSDGEVNDLD NYMPENGEKP
DRMMVQLTLA SERSSPQRKS QRSSYVSMRI DTHAIDKYSR IIFPAAYILF NLIYWSIFS
