LOCUS       NM_002042               2742 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit rho1
            (GABRR1), transcript variant 1, mRNA.
ACCESSION   NM_002042
VERSION     NM_002042.5
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 2742)
  AUTHORS   Fan,C., Cowgill,J., Howard,R.J. and Lindahl,E.
  TITLE     Divergent mechanisms of steroid inhibition in the human rho1 GABAA
            receptor
  JOURNAL   Nat Commun 15 (1), 7795 (2024)
   PUBMED   39242530
  REMARK    GeneRIF: Divergent mechanisms of steroid inhibition in the human
            rho1 GABAA receptor.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2742)
  AUTHORS   Van Assche,E., Moons,T., Cinar,O., Viechtbauer,W., Oldehinkel,A.J.,
            Van Leeuwen,K., Verschueren,K., Colpin,H., Lambrechts,D., Van den
            Noortgate,W., Goossens,L., Claes,S. and van Winkel,R.
  TITLE     Gene-based interaction analysis shows GABAergic genes interacting
            with parenting in adolescent depressive symptoms
  JOURNAL   J Child Psychol Psychiatry 58 (12), 1301-1309 (2017)
   PUBMED   28660714
  REMARK    GeneRIF: GABAergic genes interacting with parenting in adolescent
            depressive symptoms: GABRR1 X perceived parental support
            interaction.
REFERENCE   3  (bases 1 to 2742)
  AUTHORS   Blednov,Y.A., Borghese,C.M., Ruiz,C.I., Cullins,M.A., Da Costa,A.,
            Osterndorff-Kahanek,E.A., Homanics,G.E. and Harris,R.A.
  TITLE     Mutation of the inhibitory ethanol site in GABAA rho1 receptors
            promotes tolerance to ethanol-induced motor incoordination
  JOURNAL   Neuropharmacology 123, 201-209 (2017)
   PUBMED   28623169
  REMARK    GeneRIF: Study determined that levels of GABAA receptors rho1 and
            rho2 are not altered in the cerebellum of WT and rho1 knockin mice.
            In addition, findings show that mutation of the inhibitory ethanol
            site in rho1 does not alter normal channel function, but is
            important for the development of acute tolerance to ethanol-induced
            motor impairment.
REFERENCE   4  (bases 1 to 2742)
  AUTHORS   Garcia-Martin,E., Martinez,C., Serrador,M., Alonso-Navarro,H.,
            Navacerrada,F., Esguevillas,G., Garcia-Albea,E., Agundez,J.A.G. and
            Jimenez-Jimenez,F.J.
  TITLE     Gamma-Aminobutyric Acid (Gaba) Receptors Rho (Gabrr) Gene
            Polymorphisms and Risk for Migraine
  JOURNAL   Headache 57 (7), 1118-1135 (2017)
   PUBMED   28699326
  REMARK    GeneRIF: The most common polymorphisms in the GABRR genes seemed to
            be not associated with the risk for migraine in Caucasian Spanish
            people, although one of them (GABRR1 rs1186902) shows a
            statistically significant association with the age of onset of
            migraine.
REFERENCE   5  (bases 1 to 2742)
  AUTHORS   Naffaa,M.M., Absalom,N., Solomon,V.R., Chebib,M., Hibbs,D.E. and
            Hanrahan,J.R.
  TITLE     Investigating the Role of Loop C Hydrophilic Residue 'T244' in the
            Binding Site of rho1 GABAC Receptors via Site Mutation and Partial
            Agonism
  JOURNAL   PLoS One 11 (5), e0156618 (2016)
   PUBMED   27244450
  REMARK    GeneRIF: Thr244 of rho1 GABAC Receptors is an important residue for
            channel activation as it forms a H-bond with agonists, initiating
            the conformational changes required for priming of the receptor and
            stabilizes the open conformation (review).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2742)
  AUTHORS   Kusama,T., Hatama,K., Sakurai,M., Kizawa,Y., Uhl,G.R. and
            Murakami,H.
  TITLE     Consensus phosphorylation sites of human GABA(c)/GABArho receptors
            are not critical for inhibition by protein kinase C activation
  JOURNAL   Neurosci Lett 255 (1), 17-20 (1998)
   PUBMED   9839716
REFERENCE   7  (bases 1 to 2742)
  AUTHORS   Hackam,A.S., Wang,T.L., Guggino,W.B. and Cutting,G.R.
  TITLE     The N-terminal domain of human GABA receptor rho1 subunits contains
            signals for homooligomeric and heterooligomeric interaction
  JOURNAL   J Biol Chem 272 (21), 13750-13757 (1997)
   PUBMED   9153229
REFERENCE   8  (bases 1 to 2742)
  AUTHORS   Wang,T.L., Hackam,A., Guggino,W.B. and Cutting,G.R.
  TITLE     A single histidine residue is essential for zinc inhibition of GABA
            rho 1 receptors
  JOURNAL   J Neurosci 15 (11), 7684-7691 (1995)
   PUBMED   7472519
REFERENCE   9  (bases 1 to 2742)
  AUTHORS   Cutting,G.R., Curristin,S., Zoghbi,H., O'Hara,B., Seldin,M.F. and
            Uhl,G.R.
  TITLE     Identification of a putative gamma-aminobutyric acid (GABA)
            receptor subunit rho2 cDNA and colocalization of the genes encoding
            rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and
            mouse chromosome 4
  JOURNAL   Genomics 12 (4), 801-806 (1992)
   PUBMED   1315307
REFERENCE   10 (bases 1 to 2742)
  AUTHORS   Cutting,G.R., Lu,L., O'Hara,B.F., Kasch,L.M.,
            Montrose-Rafizadeh,C., Donovan,D.M., Shimada,S., Antonarakis,S.E.,
            Guggino,W.B., Uhl,G.R. et al.
  TITLE     Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA
            receptor subunit highly expressed in the retina
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2673-2677 (1991)
   PUBMED   1849271
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353659.13 and AL353135.32.
            
            On Jul 29, 2019 this sequence version replaced NM_002042.4.
            
            Summary: GABA is the major inhibitory neurotransmitter in the
            mammalian brain where it acts at GABA receptors, which are
            ligand-gated chloride channels. GABRR1 is a member of the rho
            subunit family. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M62400.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000454853.7/ ENSP00000412673.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-158               AL353659.13        18015-18172         c
            159-209             AL353659.13        4249-4299           c
            210-316             AL353659.13        1973-2079           c
            317-384             AL353659.13        176-243             c
            385-608             AL353135.32        126387-126610       c
            609-691             AL353135.32        118532-118614       c
            692-832             AL353135.32        113677-113817       c
            833-985             AL353135.32        110272-110424       c
            986-1182            AL353135.32        108659-108855       c
            1183-2742           AL353135.32        105871-107430       c
FEATURES             Location/Qualifiers
     source          1..2742
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..2742
                     /gene="GABRR1"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     rho1"
                     /db_xref="GeneID:2569"
                     /db_xref="HGNC:HGNC:4090"
                     /db_xref="MIM:137161"
     exon            1..158
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1476
                     /gene="GABRR1"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; gamma-aminobutyric acid (GABA) A receptor,
                     rho-1; gamma-aminobutyric acid receptor subunit rho-1;
                     bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho
                     1); GABA(A) receptor subunit rho-1; GABA(C) receptor;
                     GABA(A) receptor, rho 1; gamma-aminobutyric acid type A
                     receptor rho1 subunit; GABAAR subunit rho-1"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit rho-1
                     isoform a precursor"
                     /protein_id="NP_002033.2"
                     /db_xref="CCDS:CCDS5019.2"
                     /db_xref="GeneID:2569"
                     /db_xref="HGNC:HGNC:4090"
                     /db_xref="MIM:137161"
                     /translation="MLAVPNMRFGIFLLWWGWVLATESRMHWPGREVHEMSKKGRPQR
                     QRREVHEDAHKQVSPILRRSPDITKSPLTKSEQLLRIDDHDFSMRPGFGGPAIPVGVD
                     VQVESLDSISEVDMDFTMTLYLRHYWKDERLSFPSTNNLSMTFDGRLVKKIWVPDMFF
                     VHSKRSFIHDTTTDNVMLRVQPDGKVLYSLRVTVTAMCNMDFSRFPLDTQTCSLEIES
                     YAYTEDDLMLYWKKGNDSLKTDERISLSQFLIQEFHTTTKLAFYSSTGWYNRLYINFT
                     LRRHIFFFLLQTYFPATLMVMLSWVSFWIDRRAVPARVPLGITTVLTMSTIITGVNAS
                     MPRVSYIKAVDIYLWVSFVFVFLSVLEYAAVNYLTTVQERKEQKLREKLPCTSGLPPP
                     RTAMLDGNYSDGEVNDLDNYMPENGEKPDRMMVQLTLASERSSPQRKSQRSSYVSMRI
                     DTHAIDKYSRIIFPAAYILFNLIYWSIFS"
     exon            159..209
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            210..316
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            317..384
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            385..608
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            609..691
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            692..832
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            833..985
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1182
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..2742
                     /gene="GABRR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2000..2005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRR1"
                     /note="hexamer: AATAAA"
     polyA_site      2023
                     /gene="GABRR1"
                     /note="major polyA site"
     regulatory      2720..2725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRR1"
                     /note="hexamer: AATAAA"
     polyA_site      2742
                     /gene="GABRR1"
                     /note="major polyA site"
ORIGIN      
        1 ctgtttctgg agagagctgt ttgaatttgg aaacccatgt tggctgtccc aaatatgaga
       61 tttggcatct ttcttttgtg gtggggatgg gttttggcca ctgaaagcag aatgcactgg
      121 cccggaagag aagtccacga gatgtctaag aaaggcaggc cccaaagaca aagacgagaa
      181 gtacatgaag atgcccacaa gcaagtcagc ccaattctga gacgaagtcc tgacatcacc
      241 aaatcgcctc tgacaaagtc agaacagctt ctgaggatag atgaccatga tttcagcatg
      301 aggcctggct ttggaggccc tgccattcct gttggtgtgg atgtgcaggt ggagagtttg
      361 gatagcatct cagaggttga catggacttt acgatgaccc tctacctgag gcactactgg
      421 aaggacgaga ggctgtcttt tccaagcacc aacaacctca gcatgacgtt tgacggccgg
      481 ctggtcaaga agatctgggt ccctgacatg tttttcgtgc actccaaacg ctccttcatc
      541 cacgacacca ccacagacaa cgtcatgttg cgggtccagc ctgatgggaa agtgctctat
      601 agtctcaggg ttacagtaac tgcaatgtgc aacatggact tcagccgatt tcccttggac
      661 acacaaacgt gctctcttga aattgaaagc tatgcctata cagaagatga cctcatgctg
      721 tactggaaaa agggcaatga ctccttaaag acagatgaac ggatctcact ctcccagttc
      781 ctcattcagg aattccacac caccaccaaa ctggctttct acagcagcac aggctggtac
      841 aaccgtctct acattaattt cacgttgcgt cgccacatct tcttcttctt gctccaaact
      901 tatttccccg ctaccctgat ggtcatgctg tcctgggtgt ccttctggat cgaccgcaga
      961 gccgtgcctg ccagagtccc cttaggtatc acaacggtgc tgaccatgtc caccatcatc
     1021 acgggcgtga atgcctccat gccgcgcgtc tcctacatca aggccgtgga catctacctc
     1081 tgggtcagct ttgtgttcgt gttcctctcg gtgctggagt atgcggccgt caactacctg
     1141 accactgtgc aggagaggaa ggaacagaag ctgcgggaga agcttccctg caccagcgga
     1201 ttacctccgc cccgcactgc gatgctggac ggcaactaca gtgatgggga ggtgaatgac
     1261 ctggacaact acatgccaga gaatggagag aagcccgaca ggatgatggt gcagctgacc
     1321 ctggcctcag agaggagctc cccacagagg aaaagtcaga gaagcagcta tgtgagcatg
     1381 agaatcgaca cccacgccat tgataaatac tccaggatca tctttccagc agcatacatt
     1441 ttattcaatt taatatactg gtctattttc tcctagatgc ttgtaattct acaaatttca
     1501 catttccatg gcatgcacta cagaaataac tgtataatga aaaagtattt aaggatatgg
     1561 ttaaaaaaaa atcccaggac ccacccatgt tttcactatc ccttctgcag ctttccaaag
     1621 ctacattgac gagacactta ctggtttaat ttgcacttat taaccatcta ttgaatacac
     1681 agcattatat taggtgctgc aggaaatacg acactgtagc gactgatgtt agttgttacc
     1741 cagatcccct ggaaaagcac actaccagtg ttgtgggcac atttagttcc acccgttaga
     1801 cccttgatgc tattcacatg aataatttat tttcctcaag tgtcattaca ttgttcaggc
     1861 tacgtgaact tggaagcacc tacaggccat ttgcatgaaa ttcacatgca cctaaatcct
     1921 cactttgaca gaaactcatg cttcagttta taacctatta cctattttgt atgcgactcc
     1981 acctccgcat gtttatttta ataaaaggca atgataacat tcacattatt tttctttata
     2041 tgctgtggtt cacaggcttt accccttcac aagaaaagct ctttagattg gcgcaattgc
     2101 ttctgatttt ggtgaaattt tccctggtag ggaaactttg aagataagag tacacacatg
     2161 cattttgtct gttgtgtcat agaggtaact aggctagaaa atttgtgttt aaatgttccc
     2221 tattttatat aatcaccact tcatgtttct tcttcttgga gcatgtcctt gttcaaagag
     2281 aagtgctttc tcagtgatgt gatatcttca ctgaggaact tgggtagaga atgatttctt
     2341 ctgcataaac acttcaagga aatacataat ttgggactac ttgtaactca ttagaatgag
     2401 aaatactcac atggtttctt aagagaaaaa gaacatcgga aagcaaaata aatgggaaga
     2461 tatcactgga catctgcatt tatactcgaa ataccagcat tttctatgga ccagaaaact
     2521 gccatcacct agaccacaca gcccagatac caggcagacg gatggcccaa tggcaactga
     2581 tgtcagggca tggggtaaag gagagggttc taatctggtg tatcacttaa aaacagttat
     2641 ttatattata tatctgctat atagatcaac ctccaccaaa cttacccaaa cagcatttgt
     2701 tttatttgaa actcacttta ataaagtgaa ttatatacac aa
//
