LOCUS       NM_001105580            3113 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit rho3
            (GABRR3), transcript variant 1, mRNA.
ACCESSION   NM_001105580 XM_116036
VERSION     NM_001105580.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3113)
  AUTHORS   Jimenez-Jimenez,F.J., Esguevillas,G., Alonso-Navarro,H., Zurdo,M.,
            Turpin-Fenoll,L., Millan-Pascual,J., Adeva-Bartolome,T., Cubo,E.,
            Navacerrada,F., Amo,G., Rojo-Sebastian,A., Rubio,L.,
            Diez-Fairen,M., Pastor,P., Calleja,M., Plaza-Nieto,J.F.,
            Pilo-de-la-Fuente,B., Arroyo-Solera,M., Garcia-Albea,E.,
            Agundez,J.A.G. and Garcia-Martin,E.
  TITLE     Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and
            risk for restless legs syndrome
  JOURNAL   Pharmacogenomics J 18 (4), 565-577 (2018)
   PUBMED   29720720
  REMARK    GeneRIF: These results suggest association between GABRR3 rs832032
            polymorphism and the risk for restless legs syndrome , and a
            modifier effect of GABRA4 rs2229940 on the age of onset of restless
            legs syndrome .
REFERENCE   2  (bases 1 to 3113)
  AUTHORS   Garcia-Martin,E., Martinez,C., Alonso-Navarro,H., Benito-Leon,J.,
            Lorenzo-Betancor,O., Pastor,P., Puertas,I., Rubio,L.,
            Lopez-Alburquerque,T., Agundez,J.A. and Jimenez-Jimenez,F.J.
  TITLE     Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms
            and risk for essential tremor
  JOURNAL   J Neurol 258 (2), 203-211 (2011)
   PUBMED   20820800
  REMARK    GeneRIF: found no significant differences in either the frequencies
            of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X
            genotypes or in the frequencies of the allelic variants of these
            polymorphisms in patients with essential tremor
REFERENCE   3  (bases 1 to 3113)
  AUTHORS   Craddock,N., Jones,L., Jones,I.R., Kirov,G., Green,E.K.,
            Grozeva,D., Moskvina,V., Nikolov,I., Hamshere,M.L., Vukcevic,D.,
            Caesar,S., Gordon-Smith,K., Fraser,C., Russell,E., Norton,N.,
            Breen,G., St Clair,D., Collier,D.A., Young,A.H., Ferrier,I.N.,
            Farmer,A., McGuffin,P., Holmans,P.A., Donnelly,P., Owen,M.J. and
            O'Donovan,M.C.
  CONSRTM   Wellcome Trust Case Control Consortium (WTCCC)
  TITLE     Strong genetic evidence for a selective influence of GABAA
            receptors on a component of the bipolar disorder phenotype
  JOURNAL   Mol Psychiatry 15 (2), 146-153 (2010)
   PUBMED   19078961
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Mol Psychiatry. 2010 Nov;15(11):1121]
REFERENCE   4  (bases 1 to 3113)
  AUTHORS   Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R.,
            Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F.,
            Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L.,
            Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M.,
            Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and
            Carracedo,A.
  CONSRTM   Psychiatric Genetics Network Group
  TITLE     Identification of new putative susceptibility genes for several
            psychiatric disorders by association analysis of regulatory and
            non-synonymous SNPs of 306 genes involved in neurotransmission and
            neurodevelopment
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 150B (6), 808-816 (2009)
   PUBMED   19086053
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3113)
  AUTHORS   Alakuijala,A., Palgi,M., Wegelius,K., Schmidt,M., Enz,R.,
            Paulin,L., Saarma,M. and Pasternack,M.
  TITLE     GABA receptor rho subunit expression in the developing rat brain
  JOURNAL   Brain Res Dev Brain Res 154 (1), 15-23 (2005)
   PUBMED   15617751
  REMARK    GeneRIF: GABA(C) receptors are specifically involved in aspects of
            visual image motion processing in the rat brain
REFERENCE   6  (bases 1 to 3113)
  AUTHORS   Croci,C., Brandstatter,J.H. and Enz,R.
  TITLE     ZIP3, a new splice variant of the PKC-zeta-interacting protein
            family, binds to GABAC receptors, PKC-zeta, and Kv beta 2
  JOURNAL   J Biol Chem 278 (8), 6128-6135 (2003)
   PUBMED   12431995
REFERENCE   7  (bases 1 to 3113)
  AUTHORS   Bailey,M.E., Albrecht,B.E., Johnson,K.J. and Darlison,M.G.
  TITLE     Genetic linkage and radiation hybrid mapping of the three human
            GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 307-312 (1999)
   PUBMED   10542332
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026100.19 and KF459624.1.
            
            On Oct 23, 2020 this sequence version replaced NM_001105580.2.
            
            Summary: The neurotransmitter gamma-aminobutyric acid (GABA)
            functions in the central nervous system to regulate synaptic
            transmission of neurons. This gene encodes one of three related
            subunits, which combine as homo- or hetero-pentamers to form
            GABA(C) receptors. In humans, some individuals contain a
            single-base polymorphism (dbSNP rs832032) that is predicted to
            inactivate the gene product. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (1) represents the functional
            allele (SNP rs832032, has Tyr205 versus a stop codon) and encodes
            the supported protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968968, SAMEA2147975
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000472788.6/ ENSP00000420790.1
            polymorphic pseudogene    :: PMID: 20820800
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-126               AC026100.19        21690-21815
            127-253             AC026100.19        22016-22142
            254-366             AC026100.19        31326-31438
            367-434             AC026100.19        39283-39350
            435-658             AC026100.19        44438-44661
            659-741             AC026100.19        47967-48049
            742-882             KF459624.1         179-319
            883-1035            AC026100.19        55238-55390
            1036-1232           AC026100.19        63957-64153
            1233-3113           AC026100.19        70023-71903
FEATURES             Location/Qualifiers
     source          1..3113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..3113
                     /gene="GABRR3"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     rho3"
                     /db_xref="GeneID:200959"
                     /db_xref="HGNC:HGNC:17969"
                     /db_xref="MIM:618668"
     exon            1..126
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            127..253
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1532
                     /gene="GABRR3"
                     /note="gamma-aminobutyric acid receptor subunit rho-3;
                     GABA(A) receptor subunit rho-3; GABA(C) receptor;
                     gamma-aminobutyric acid type A receptor rho3 subunit;
                     gamma-aminobutyric acid (GABA) A receptor, rho 3; GABAAR
                     subunit rho-3"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit rho-3
                     precursor"
                     /protein_id="NP_001099050.1"
                     /db_xref="CCDS:CCDS54617.1"
                     /db_xref="GeneID:200959"
                     /db_xref="HGNC:HGNC:17969"
                     /db_xref="MIM:618668"
                     /translation="MVLAFQLVSFTYIWIILKPNVCAASNIKMTHQRCSSSMKQTCKQ
                     ETRMKKDDSTKARPQKYEQLLHIEDNDFAMRPGFGGSPVPVGIDVHVESIDSISETNM
                     DFTMTFYLRHYWKDERLSFPSTANKSMTFDHRLTRKIWVPDIFFVHSKRSFIHDTTME
                     NIMLRVHPDGNVLLSLRITVSAMCFMDFSRFPLDTQNCSLELESYAYNEDDLMLYWKH
                     GNKSLNTEEHMSLSQFFIEDFSASSGLAFYSSTGWYNRLFINFVLRRHVFFFVLQTYF
                     PAILMVMLSWVSFWIDRRAVPARVSLGITTVLTMSTIITAVSASMPQVSYLKAVDVYL
                     WVSSLFVFLSVIEYAAVNYLTTVEERKQFKKTGKISRMYNIDAVQAMAFDGCYHDSEI
                     DMDQTSLSLNSEDFMRRKSICSPSTDSSRIKRRKSLGGHVGRIILENNHVIDTYSRIL
                     FPIVYILFNLFYWGVYV"
     exon            254..366
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            367..434
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            435..658
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            659..741
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            742..882
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1035
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1232
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..3113
                     /gene="GABRR3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gctgagggtt tactgagtat ggattgagca tcacactaaa aaccttcccc ggaaaaaggg
       61 accaaaggat gtaaactgaa aattttaaaa atctgctttg ttttcctcaa attgctgaag
      121 atccagagat ggtcctggct ttccagttag tctccttcac ctacatctgg atcatattga
      181 aaccaaatgt ttgtgctgct tctaacatca agatgacaca ccagcggtgc tcctcttcaa
      241 tgaaacaaac ctgcaaacaa gaaactagaa tgaagaaaga tgacagtacc aaagcgcggc
      301 ctcagaaata tgagcaactt ctccatatag aggacaacga tttcgcaatg agacctggat
      361 ttggagggtc tccagtgcca gtaggtatag atgtccatgt tgaaagcatt gacagcattt
      421 cagagactaa catggacttt acaatgactt tttatctcag gcattactgg aaagacgaga
      481 ggctctcctt tcctagcaca gcaaacaaaa gcatgacatt tgatcataga ttgaccagaa
      541 agatctgggt gcctgatatc ttttttgtcc actctaaaag atccttcatc catgatacaa
      601 ctatggagaa tatcatgctg cgcgtacacc ctgatggaaa cgtcctccta agtctcagga
      661 taacggtttc ggccatgtgc tttatggatt tcagcaggtt tcctcttgac actcaaaatt
      721 gttctcttga actggaaagc tatgcctaca atgaggatga cctaatgcta tactggaaac
      781 acggaaacaa gtccttaaat actgaagaac atatgtccct ttctcagttc ttcattgaag
      841 acttcagtgc atctagtgga ttagctttct atagcagcac aggttggtac aataggcttt
      901 tcatcaactt tgtgctaagg aggcatgttt tcttctttgt gctgcaaacc tatttcccag
      961 ccatattgat ggtgatgctt tcatgggttt cattttggat tgaccgaaga gctgttcctg
     1021 caagagtttc cctgggaatc accacagtgc tgaccatgtc cacaatcatc actgctgtga
     1081 gcgcctccat gccccaggtg tcctacctca aggctgtgga tgtgtacctg tgggtcagct
     1141 ccctctttgt gttcctgtca gtcattgagt atgcagctgt gaactacctc accacagtgg
     1201 aagagcggaa acaattcaag aagacaggaa agatttctag gatgtacaat attgatgcag
     1261 ttcaagctat ggcctttgat ggttgttacc atgacagcga gattgacatg gaccagactt
     1321 ccctctctct aaactcagaa gacttcatga gaagaaaatc gatatgcagc cccagcaccg
     1381 attcatctcg gataaagaga agaaaatccc taggaggaca tgttggtaga atcattctgg
     1441 aaaacaacca tgtcattgac acctattcta ggattttatt ccccattgtg tatattttat
     1501 ttaatttgtt ttactggggt gtatatgtat gaaggggaat ttcaaatgta tacaacttta
     1561 aagccagatg atgtttaaaa acaaaactct tgaatatgag ttggatagtc ctagatggaa
     1621 ctgggaaaga gcaagtcacc tctcctgccc taatgaaaat ttgaaagctg tctgatttac
     1681 atctaagaaa gagtttaggt cctagaaaag tttgactcca taaataagag tcataggcat
     1741 gtgtattatg ggaaaaacag ttttccattg ggaagggctt tataactact tcatctgaac
     1801 cctccttctt tcttaatgaa atgttcttta tttaactagg gaagaaagct ggactataac
     1861 aataattcaa agatattttg tttcttagtg ccagccaagt gcctggttat ctaccagagc
     1921 tcaaccgtcc taggcaagaa catccacata gaggtggtat catccacact cacacagctg
     1981 agaatcctat gaaggatctc caatctcctt ctccagtcaa gtatttattc ttatttaaat
     2041 attgtttcag gccaggtgcc gtggctcatg cttgttatcc cagcactttg ggaggccgag
     2101 gtgtgcagat catttgaggt caggagttca agaccagcct ggccaacatg gtgaaacccc
     2161 gtctctacta aacgtacaaa aattagcggg catggtggca cacgcctgta gtctgtgcta
     2221 cttgggaggc tgaggcagga gaatcacttt aacatgggag gcagaggttg cagtgagctg
     2281 agattgagcc actgcactct agcctgggcg acagagcgag acatcatctc aaaaaataaa
     2341 taaaataaaa aaaaatatat atatatataa aatattgttt catgtatttg tgagcataag
     2401 tggagagggg aagctaaact tccacttatt cttctcattc taatgttaaa ttaatacatc
     2461 agtcatcaat aataacatct cgcattttgt agatcatgta ttgttttcac agctttttag
     2521 aggtttttaa ttaatcactt tgttcaacaa atgtttattg accacctacg tgtgccaggc
     2581 acttcactaa gtgttatgta ctgaaaaaat gaatatgaaa tagcgttcct gccttctcta
     2641 agtgcatagc caacaggagc agtgaactgg agctataaaa catgtgacga atgttaaaac
     2701 agaggtatgt acactgtctg gtgtgaattc tgaaaggggg ataccaaaga aaggaaaaga
     2761 acatctccaa agggatgtgg actctcaatt tataaacaac tggagatgct tccagatatt
     2821 gtattgagtg aaaaaactga atgaaatgta tttatcccat agtaatcctt aatatctttg
     2881 gtcgaaccaa gtaaaccagg tcaagtgggt attaaataaa tttttgttaa gtaggaaaac
     2941 ctcctatgat cagtgttcat tttgcagatt ggcagtgtgc atgcttttgt tttgagtatt
     3001 ttctgaacaa gattcaattt aaagaaaagc ccttggcagg aaatatgaaa tattccgata
     3061 cctattttga ttgctgggat tgaattaaga gaaataaatt aaatggtgta tta
//
