LOCUS       NM_144499               3599 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens G protein subunit alpha transducin 1 (GNAT1),
            transcript variant 1, mRNA.
ACCESSION   NM_144499
VERSION     NM_144499.3
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 3599)
  AUTHORS   Hayashi,T., Hosono,K., Kurata,K., Katagiri,S., Mizobuchi,K.,
            Ueno,S., Kondo,M., Nakano,T. and Hotta,Y.
  TITLE     Coexistence of GNAT1 and ABCA4 variants associated with
            Nougaret-type congenital stationary night blindness and
            childhood-onset cone-rod dystrophy
  JOURNAL   Doc Ophthalmol 140 (2), 147-157 (2020)
   PUBMED   31583501
  REMARK    GeneRIF: This is the second report of a Nougaret-type congenital
            stationary night blindness (CSNB) family with the GNAT1 variant.
            Our novel findings suggest that coexistence of the GNAT1 and
            biallelic ABCA4 variants is associated with an overlapping
            phenotype with both Nougaret-type CSNB and cone-rod dystrophy.
REFERENCE   2  (bases 1 to 3599)
  AUTHORS   Kubota,D., Oishi,N., Gocho,K., Kikuchi,S., Yamaki,K., Igarashi,T.,
            Takahashi,H., Ishida,N., Iwata,T., Mizota,A. and Kameya,S.
  TITLE     Novel homozygous in-frame deletion of GNAT1 gene causes golden
            appearance of fundus and reduced scotopic ERGs similar to that in
            Oguchi disease in Japanese family
  JOURNAL   Ophthalmic Genet 40 (5), 480-487 (2019)
   PUBMED   31696758
  REMARK    GeneRIF: Homozygous in-frame deletion of GNAT1 gene is associated
            with Stationary night blindness, Oguchi type.
REFERENCE   3  (bases 1 to 3599)
  AUTHORS   Marmor,M.F. and Zeitz,C.
  TITLE     Riggs-type dominant congenital stationary night blindness: ERG
            findings, a new GNAT1 mutation and a systemic association
  JOURNAL   Doc Ophthalmol 137 (1), 57-62 (2018)
   PUBMED   30051303
  REMARK    GeneRIF: Our family's ERG showed essentially no rod response,
            consistent with a Danish GNAT1 pedigree but different from the
            Nougaret GNAT1 pedigree that shows partial preservation of rod
            signal. A genetic connection between Complete congenital stationary
            night blindness and postural orthostatic tachycardia syndrome would
            be intriguing, but we found no evidence for this.
REFERENCE   4  (bases 1 to 3599)
  AUTHORS   Carrigan,M., Duignan,E., Humphries,P., Palfi,A., Kenna,P.F. and
            Farrar,G.J.
  TITLE     A novel homozygous truncating GNAT1 mutation implicated in retinal
            degeneration
  JOURNAL   Br J Ophthalmol 100 (4), 495-500 (2016)
   PUBMED   26472407
  REMARK    GeneRIF: These data suggest that some truncating GNAT1 variants can
            indeed cause a recessive, mild, late-onset retinal degeneration in
            human beings rather than just stationary night-blindness as
            reported previously.
REFERENCE   5  (bases 1 to 3599)
  AUTHORS   Wang,K., Ling,T., Wu,H. and Zhang,J.
  TITLE     Screening of candidate tumor-suppressor genes in 3p21.3 and
            investigation of the methylation of gene promoters in oral squamous
            cell carcinoma
  JOURNAL   Oncol Rep 29 (3), 1175-1182 (2013)
   PUBMED   23292452
  REMARK    GeneRIF: Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and
            GNAT1 may be involved in oral squamous cell carcinoma.
REFERENCE   6  (bases 1 to 3599)
  AUTHORS   Fong,S.L.
  TITLE     Characterization of the human rod transducin alpha-subunit gene
  JOURNAL   Nucleic Acids Res 20 (11), 2865-2870 (1992)
   PUBMED   1614872
REFERENCE   7  (bases 1 to 3599)
  AUTHORS   Wilkie,T.M., Gilbert,D.J., Olsen,A.S., Chen,X.N., Amatruda,T.T.,
            Korenberg,J.R., Trask,B.J., de Jong,P., Reed,R.R., Simon,M.I. et
            al.
  TITLE     Evolution of the mammalian G protein alpha subunit multigene family
  JOURNAL   Nat Genet 1 (2), 85-91 (1992)
   PUBMED   1302014
  REMARK    Review article
REFERENCE   8  (bases 1 to 3599)
  AUTHORS   Bourne,H.R., Sanders,D.A. and McCormick,F.
  TITLE     The GTPase superfamily: conserved structure and molecular mechanism
  JOURNAL   Nature 349 (6305), 117-127 (1991)
   PUBMED   1898771
  REMARK    Review article
REFERENCE   9  (bases 1 to 3599)
  AUTHORS   Lerea,C.L., Bunt-Milam,A.H. and Hurley,J.B.
  TITLE     Alpha transducin is present in blue-, green-, and red-sensitive
            cone photoreceptors in the human retina
  JOURNAL   Neuron 3 (3), 367-376 (1989)
   PUBMED   2534964
REFERENCE   10 (bases 1 to 3599)
  AUTHORS   Van Dop,C., Medynski,D.C. and Apone,L.M.
  TITLE     Nucleotide sequence for a cDNA encoding the alpha subunit of
            retinal transducin (GNAT1) isolated from the human eye
  JOURNAL   Nucleic Acids Res 17 (12), 4887 (1989)
   PUBMED   2748346
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000063.1, BX953950.1,
            BC095505.1, BQ637667.1, AC002077.1 and BU727496.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_144499.2.
            
            Summary: Transducin is a 3-subunit guanine nucleotide-binding
            protein (G protein) which stimulates the coupling of rhodopsin and
            cGMP-phoshodiesterase during visual impulses. The transducin alpha
            subunits in rods and cones are encoded by separate genes. This gene
            encodes the alpha subunit in rods. This gene is also expressed in
            other cells, and has been implicated in bitter taste transduction
            in rat taste cells. Mutations in this gene result in autosomal
            dominant congenital stationary night blindness. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified. [provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript variant.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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##
            CDS exon combination :: BC095505.1, AF493908.1 [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000232461.8/ ENSP00000232461.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC000063.1         59-60               c
            3-113               BX953950.1         1-111
            114-1169            BC095505.1         1-1056
            1170-1761           BQ637667.1         22-613
            1762-3181           AC002077.1         32874-34293         c
            3182-3599           BU727496.1         19-436              c
FEATURES             Location/Qualifiers
     source          1..3599
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..3599
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /note="G protein subunit alpha transducin 1"
                     /db_xref="GeneID:2779"
                     /db_xref="HGNC:HGNC:4393"
                     /db_xref="MIM:139330"
     exon            1..222
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1169
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /note="transducin alpha-1 chain; guanine nucleotide
                     binding protein (G protein), alpha transducing activity
                     polypeptide 1; transducin, rod-specific; guanine
                     nucleotide-binding protein G(T), alpha-1 subunit; rod-type
                     transducin alpha subunit; heterotrimeric guanine
                     nucleotide-binding protein 1F"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein G(t) subunit
                     alpha-1"
                     /protein_id="NP_653082.1"
                     /db_xref="CCDS:CCDS2812.1"
                     /db_xref="GeneID:2779"
                     /db_xref="HGNC:HGNC:4393"
                     /db_xref="MIM:139330"
                     /translation="MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKST
                     IVKQMKIIHQDGYSLEECLEFIAIIYGNTLQSILAIVRAMTTLNIQYGDSARQDDARK
                     LMHMADTIEEGTMPKEMSDIIQRLWKDSGIQACFERASEYQLNDSAGYYLSDLERLVT
                     PGYVPTEQDVLRSRVKTTGIIETQFSFKDLNFRMFDVGGQRSERKKWIHCFEGVTCII
                     FIAALSAYDMVLVEDDEVNRMHESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKK
                     AHLSICFPDYDGPNTYEDAGNYIKVQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDA
                     VTDIIIKENLKDCGLF"
     exon            223..265
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            266..407
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            408..565
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            566..694
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            695..824
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            825..978
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1170
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..3599
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2400..2405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /note="hexamer: AATAAA"
     polyA_site      2418
                     /gene="GNAT1"
                     /gene_synonym="CSNB1G; CSNBAD3; GBT1; GNATR; HG1F"
                     /note="major polyA site"
ORIGIN      
        1 agttgattgc aggtcctcct ggggccagaa gggtgcctgg gaggccaggt tctggggatc
       61 ccctccatcc agaagaacca cctgctcact ctgtcccttc gcctgctgct gggaccatgg
      121 gggctggggc cagtgctgag gagaagcact ccagggagct ggaaaagaag ctgaaagagg
      181 acgctgagaa ggatgctcga accgtgaagc tgctgcttct gggtgccggt gagtccggga
      241 agagcaccat cgtcaagcag atgaagatta tccaccagga cgggtactcg ctggaagagt
      301 gcctcgagtt tatcgccatc atctacggca acacgttgca gtccatcctg gccatcgtac
      361 gcgccatgac cacactcaac atccagtacg gagactctgc acgccaggac gacgcccgga
      421 agctgatgca catggcagac actatcgagg agggcacgat gcccaaggag atgtcggaca
      481 tcatccagcg gctgtggaag gactccggta tccaggcctg ttttgagcgc gcctcggagt
      541 accagctcaa cgactcggcg ggctactacc tctccgacct ggagcgcctg gtaaccccgg
      601 gctacgtgcc caccgagcag gacgtgctgc gctcgcgagt caagaccact ggcatcatcg
      661 agacgcagtt ctccttcaag gatctcaact tccggatgtt cgatgtgggc gggcagcgct
      721 cggagcgcaa gaagtggatc cactgcttcg agggcgtgac ctgcatcatc ttcatcgcgg
      781 cgctgagcgc ctacgacatg gtgctagtgg aggacgacga agtgaaccgc atgcacgaga
      841 gcctgcacct gttcaacagc atctgcaacc accgctactt cgccacgacg tccatcgtgc
      901 tcttccttaa caagaaggac gtcttcttcg agaagatcaa gaaggcgcac ctcagcatct
      961 gtttcccgga ctacgatgga cccaacacct acgaggacgc cggcaactac atcaaggtgc
     1021 agttcctcga gctcaacatg cggcgcgacg tgaaggagat ctattcccac atgacgtgcg
     1081 ccaccgacac gcagaacgtc aaatttgtct tcgacgctgt caccgacatc atcatcaagg
     1141 agaacctcaa agactgtggc ctcttctgag gtgcctgaat tcatgcgtgt cagtcaccct
     1201 gagacctggt agccctagct gccttgcagc cccaaacccc aggaccctat cagccccctg
     1261 ggactccctg gccccaacct gccacctcac caaagctctg agccctgcta gccttgaggc
     1321 gcggaccctc ccccatacct cccacagtat cccagcgcct catgccccca accccaagcc
     1381 ctgcccttca ccgcccggct gcactggcct ctaggactca cagcagccag ccccagctag
     1441 gaacgggcag gacttggggc agctgaagct cacggtgact cagcagtgcc caactgacca
     1501 atctcccgca gctctcctgc ccctgggggc ccacgactca cctggtgggc ctgggctcag
     1561 caaacagccc tccctcccag tatttcatca aggacaggga atatccctcc cacacacagg
     1621 ccagctgctc accctgccac ctccatgtga caagtttgac acctgtctac ccagagccag
     1681 tgactgtccc tcccagcagc ctccaaaggg tccaaagtcc aagctagctc tggcctgtgt
     1741 ggcccccaca taaataaatt agtggggagg gggcagacct gggggccctt gggtgccaga
     1801 gtgagacaca gcaggaccct tccccaaata ctaggctcag agcaacctcc agccttctcc
     1861 agcaggatct gctccctgtg tccttggaca gcagatccac acaccacttc cccacccaca
     1921 cacagtaccc tgggctggtt ggacaacagg atggtgtgtt aaggggttaa gggagggtac
     1981 tgttgacacc agctatggcc aatagctggg ctgtcctgag gggtggctgg ggacagagtc
     2041 cagctccctt ggatcagccc agaggattca ggataggaca aaggccctgg ctgtgcccaa
     2101 aagggtctac ctcaggtggg gttacaagca aacctgggtg accctcttgt ccctaccagc
     2161 agcttctctt gccccttcca ttcagggttc cctggcaggg gaagctgaga gccatggctg
     2221 aactatcagg gacaaaggcc catgtcccca catccctgct ccctccttcc tcatccagca
     2281 ccaaatcttt gcttatgtcc acaggccagg gcctgtgctg cagtcgggga caaggagctt
     2341 ccgtctggca aggccggggc acaatttgca ctcccctcag ctagacgcac agactcagca
     2401 ataaaccttt gcatcaggct ccagctgtcc tttcttggtg gaggacttaa ttatcacaag
     2461 tcatgggcat ttattaagtg cccagtgctg ggttgggcat gaagtgggaa gatggcccct
     2521 cccaggaaga agtacctggc ctgacaaggt ggggcactct tgggggtatg ggaccaactc
     2581 atggcttttc acgggagttg aggagagagg agctgtggaa aatattcact gggacagtct
     2641 tggatcaaga gggagttttg aggtggaggc tcattctggc agggaccgta gtgtctacca
     2701 gccccagaaa catgggctta tggccacagg agttcagtgg agcaagagca ggggaggaga
     2761 gacgtggaca ggtgcccaaa gccagtcgga gggcctgggc tttctcagaa ggtgatggag
     2821 agtcttggaa gccctcgagg caggaacata attgcagggc tgggattagg gtgagggaag
     2881 tgaggcacac tcaccttggg tgcaacattt aaggcgatgc caaaaaattt agtaaccaag
     2941 gtaaataata ttaggataat atttttaaaa atcaaatgaa tgcaaaaccc cacaatgaat
     3001 gaaatatcaa aatccaacag aggatcaaac agaggcatgc taagatatat tggggcttga
     3061 agcaaaggga aaactatttg ttgctatatg tttgtaggga ttttttgcca gttttaaaaa
     3121 tacatgtatc ataaagttta ctatctcagc cacttgccgg tgtatagttt ggtggtgtta
     3181 agtacattca taatgttgta caaccaccgc aactgttcat ctccagaact cctttcctct
     3241 tgtaaaactg taactctgta cccatgaaaa aataaccccc cattcctgcc ttcccccggc
     3301 tcctggcatc caccattcta ctttccatct ctatgaatgt gactgctcta agtgcctcag
     3361 atgtgtgggt ccatgaagtc tttgtctttt tgcaactggc ttatttcact tagcatcatg
     3421 tcttcaaggt ttattcatgt gtagcatatg gcagaatctc cttccttttt aaggttgaat
     3481 aatattccat tgtatatatt ccacactttg tttatttatt catctattga tgaatggtta
     3541 catctgcctt ttggctattg tgaataatgc tgctatgaac atgggtgtac aaatctctc
//
