GBRR3_HUMAN
ID GBRR3_HUMAN Reviewed; 467 AA.
AC A8MPY1; Q9UIV9;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Gamma-aminobutyric acid receptor subunit rho-3;
DE AltName: Full=GABA(A) receptor subunit rho-3;
DE AltName: Full=GABA(C) receptor;
DE Flags: Precursor;
GN Name=GABRR3;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 369-467.
RX PubMed=10542332; DOI=10.1016/s0167-4781(99)00167-0;
RA Bailey M.E.S., Albrecht B.E., Johnson K.J., Darlison M.G.;
RT "Genetic linkage and radiation hybrid mapping of the three human GABA(C)
RT receptor rho subunit genes: GABRR1, GABRR2 and GABRR3.";
RL Biochim. Biophys. Acta 1447:307-312(1999).
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 {ECO:0000250}.
CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor
CC chains: alpha, beta, gamma, delta, and rho. Forms a ternary complex
CC with SQSTM1 and PRKCZ (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250}; Multi-
CC pass membrane protein {ECO:0000250}. Cell membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
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. GABRR3 sub-
CC subfamily. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC026100; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Y18994; CAB60835.1; -; Genomic_DNA.
DR CCDS; CCDS54617.1; -.
DR RefSeq; NP_001099050.1; NM_001105580.2.
DR AlphaFoldDB; A8MPY1; -.
DR SMR; A8MPY1; -.
DR STRING; 9606.ENSP00000481321; -.
DR BindingDB; A8MPY1; -.
DR ChEMBL; CHEMBL2109242; -.
DR DrugBank; DB01567; Fludiazepam.
DR GlyGen; A8MPY1; 1 site.
DR iPTMnet; A8MPY1; -.
DR PhosphoSitePlus; A8MPY1; -.
DR BioMuta; GABRR3; -.
DR PaxDb; A8MPY1; -.
DR PeptideAtlas; A8MPY1; -.
DR PRIDE; A8MPY1; -.
DR Antibodypedia; 73148; 49 antibodies from 11 providers.
DR DNASU; 200959; -.
DR Ensembl; ENST00000472788.5; ENSP00000420790.1; ENSG00000183185.9.
DR Ensembl; ENST00000621172.4; ENSP00000481321.1; ENSG00000183185.9.
DR GeneID; 200959; -.
DR KEGG; hsa:200959; -.
DR MANE-Select; ENST00000472788.6; ENSP00000420790.1; NM_001105580.3; NP_001099050.1.
DR UCSC; uc021xbo.2; human.
DR CTD; 200959; -.
DR DisGeNET; 200959; -.
DR GeneCards; GABRR3; -.
DR HGNC; HGNC:17969; GABRR3.
DR HPA; ENSG00000183185; Tissue enriched (retina).
DR MIM; 618668; gene.
DR neXtProt; NX_A8MPY1; -.
DR OpenTargets; ENSG00000183185; -.
DR PharmGKB; PA134952133; -.
DR VEuPathDB; HostDB:ENSG00000183185; -.
DR eggNOG; KOG3643; Eukaryota.
DR GeneTree; ENSGT00940000159906; -.
DR HOGENOM; CLU_010920_0_1_1; -.
DR InParanoid; A8MPY1; -.
DR OMA; STKVWPL; -.
DR OrthoDB; 480926at2759; -.
DR PhylomeDB; A8MPY1; -.
DR PathwayCommons; A8MPY1; -.
DR Reactome; R-HSA-977443; GABA receptor activation.
DR BioGRID-ORCS; 200959; 3 hits in 191 CRISPR screens.
DR ChiTaRS; GABRR3; human.
DR GeneWiki; GABRR3; -.
DR GenomeRNAi; 200959; -.
DR Pharos; A8MPY1; Tbio.
DR PRO; PR:A8MPY1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A8MPY1; protein.
DR Bgee; ENSG00000183185; Expressed in islet of Langerhans and 10 other tissues.
DR Genevisible; A8MPY1; 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: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; NAS:UniProtKB.
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: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; NAS:UniProtKB.
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; 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; 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 3: Inferred from homology;
KW Cell membrane; Chloride; Chloride channel; Disulfide bond; Glycoprotein;
KW Ion channel; Ion transport; Membrane; Postsynaptic cell membrane;
KW Reference proteome; Signal; Synapse; Transmembrane; Transmembrane helix;
KW Transport.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..467
FT /note="Gamma-aminobutyric acid receptor subunit rho-3"
FT /id="PRO_0000332189"
FT TOPO_DOM 24..266
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 267..287
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 288..299
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 300..320
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 321..331
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 332..352
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 353..446
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 447..467
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 347..448
FT /note="Interaction with SQSTM1"
FT /evidence="ECO:0000250"
FT CARBOHYD 220
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 184..198
FT /evidence="ECO:0000250"
SQ SEQUENCE 467 AA; 54272 MW; A374DCA1CF6079C6 CRC64;
MVLAFQLVSF TYIWIILKPN VCAASNIKMT HQRCSSSMKQ TCKQETRMKK DDSTKARPQK
YEQLLHIEDN DFAMRPGFGG SPVPVGIDVH VESIDSISET NMDFTMTFYL RHYWKDERLS
FPSTANKSMT FDHRLTRKIW VPDIFFVHSK RSFIHDTTME NIMLRVHPDG NVLLSLRITV
SAMCFMDFSR FPLDTQNCSL ELESYAYNED DLMLYWKHGN KSLNTEEHMS LSQFFIEDFS
ASSGLAFYSS TGWYNRLFIN FVLRRHVFFF VLQTYFPAIL MVMLSWVSFW IDRRAVPARV
SLGITTVLTM STIITAVSAS MPQVSYLKAV DVYLWVSSLF VFLSVIEYAA VNYLTTVEER
KQFKKTGKIS RMYNIDAVQA MAFDGCYHDS EIDMDQTSLS LNSEDFMRRK SICSPSTDSS
RIKRRKSLGG HVGRIILENN HVIDTYSRIL FPIVYILFNL FYWGVYV
