LOCUS       NM_002074               3163 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens G protein subunit beta 1 (GNB1), transcript variant 1,
            mRNA.
ACCESSION   NM_002074
VERSION     NM_002074.5
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 3163)
  AUTHORS   Kleinendorst,L., Abawi,O., Vos,N., van der Valk,E.S., Maas,S.M.,
            Morgan,A.T., Hildebrand,M.S., Da Silva,J.D., Florijn,R.J.,
            Lauffer,P., Visser,J.A., van Rossum,E.F.C., van den Akker,E.L.T.
            and van Haelst,M.M.
  TITLE     GNB1 and obesity: Evidence for a correlation between
            haploinsufficiency and syndromic obesity
  JOURNAL   Clin Obes 14 (4), e12661 (2024)
   PUBMED   38596856
  REMARK    GeneRIF: GNB1 and obesity: Evidence for a correlation between
            haploinsufficiency and syndromic obesity.
REFERENCE   2  (bases 1 to 3163)
  AUTHORS   Tsuji,M., Ikeda,A., Tsuyusaki,Y., Iai,M., Kurosawa,K., Kosaki,K.
            and Goto,T.
  TITLE     Atypical clinical course in two patients with GNB1 variants who
            developed acute encephalopathy
  JOURNAL   Brain Dev 45 (8), 462-466 (2023)
   PUBMED   37453880
  REMARK    GeneRIF: Atypical clinical course in two patients with GNB1
            variants who developed acute encephalopathy.
REFERENCE   3  (bases 1 to 3163)
  AUTHORS   Zheng,H., Ma,L., Gui,R., Lin,X., Ke,X., Jian,X., Ye,C. and Chen,Q.
  TITLE     G Protein Subunit beta1 Facilitates Influenza A Virus Replication
            by Promoting the Nuclear Import of PB2
  JOURNAL   J Virol 96 (12), e0049422 (2022)
   PUBMED   35604143
  REMARK    GeneRIF: G Protein Subunit beta1 Facilitates Influenza A Virus
            Replication by Promoting the Nuclear Import of PB2.
            Erratum:[J Virol. 2023 Jun 29;97(6):e0054623. doi:
            10.1128/jvi.00546-23.. PMID: 37278529]
REFERENCE   4  (bases 1 to 3163)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 3163)
  AUTHORS   Tang,W., Zhang,L., Li,J. and Guan,Y.
  TITLE     AFAP1 antisense RNA 1 promotes retinoblastoma progression by
            sponging microRNA miR-545-3p that targets G protein subunit beta 1
  JOURNAL   Bioengineered 13 (3), 5638-5652 (2022)
   PUBMED   35193469
  REMARK    GeneRIF: AFAP1 antisense RNA 1 promotes retinoblastoma progression
            by sponging microRNA miR-545-3p that targets G protein subunit beta
            1.
REFERENCE   6  (bases 1 to 3163)
  AUTHORS   Stoyanov,B., Volinia,S., Hanck,T., Rubio,I., Loubtchenkov,M.,
            Malek,D., Stoyanova,S., Vanhaesebroeck,B., Dhand,R., Nurnberg,B. et
            al.
  TITLE     Cloning and characterization of a G protein-activated human
            phosphoinositide-3 kinase
  JOURNAL   Science 269 (5224), 690-693 (1995)
   PUBMED   7624799
REFERENCE   7  (bases 1 to 3163)
  AUTHORS   Revah-Politi,A., Sands,T.T., Colombo,S., Goldstein,D.B. and
            Anyane-Yeboa,K.
  TITLE     GNB1 Encephalopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32134617
REFERENCE   8  (bases 1 to 3163)
  AUTHORS   von Weizsacker,E., Strathmann,M.P. and Simon,M.I.
  TITLE     Diversity among the beta subunits of heterotrimeric GTP-binding
            proteins: characterization of a novel beta-subunit cDNA
  JOURNAL   Biochem Biophys Res Commun 183 (1), 350-356 (1992)
   PUBMED   1543505
REFERENCE   9  (bases 1 to 3163)
  AUTHORS   Levine,M.A., Modi,W.S. and O'Brien,S.J.
  TITLE     Chromosomal localization of the genes encoding two forms of the G
            protein beta polypeptide, beta 1 and beta 3, in man
  JOURNAL   Genomics 8 (2), 380-386 (1990)
   PUBMED   1979057
REFERENCE   10 (bases 1 to 3163)
  AUTHORS   Codina,J., Stengel,D., Woo,S.L. and Birnbaumer,L.
  TITLE     Beta-subunits of the human liver Gs/Gi signal-transducing proteins
            and those of bovine retinal rod cell transducin are identical
  JOURNAL   FEBS Lett 207 (2), 187-192 (1986)
   PUBMED   3095147
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ881467.1, BC004186.2 and
            AI092255.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002074.4.
            
            Summary: Heterotrimeric guanine nucleotide-binding proteins (G
            proteins), which integrate signals between receptors and effector
            proteins, are composed of an alpha, a beta, and a gamma subunit.
            These subunits are encoded by families of related genes. This gene
            encodes a beta subunit. Beta subunits are important regulators of
            alpha subunits, as well as of certain signal transduction receptors
            and effectors. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            2 encode the same isoform.
            
            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 :: X04526.1, SRR3476690.964266.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378609.9/ ENSP00000367872.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                BQ881467.1         31-117
            88-3159             BC004186.2         1-3072
            3160-3163           AI092255.1         8-11                c
FEATURES             Location/Qualifiers
     source          1..3163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..3163
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /note="G protein subunit beta 1"
                     /db_xref="GeneID:2782"
                     /db_xref="HGNC:HGNC:4396"
                     /db_xref="MIM:139380"
     exon            1..268
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            269..317
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            318..420
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     CDS             364..1386
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /note="isoform 1 is encoded by transcript variant 1;
                     guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit
                     beta-1; transducin beta chain 1; heterotrimeric guanine
                     nucleotide-binding protein 2A; beta subunit,
                     signal-transducing proteins GS/GI; testicular tissue
                     protein Li 72; guanine nucleotide binding protein (G
                     protein), beta polypeptide 1"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(T) subunit beta-1 isoform 1"
                     /protein_id="NP_002065.1"
                     /db_xref="CCDS:CCDS34.1"
                     /db_xref="GeneID:2782"
                     /db_xref="HGNC:HGNC:4396"
                     /db_xref="MIM:139380"
                     /translation="MSELDQLRQEAEQLKNQIRDARKACADATLSQITNNIDPVGRIQ
                     MRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKLIIWDSYTTNKVHAIPLRSSWVMT
                     CAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTS
                     SGDTTCALWDIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMC
                     RQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQELMTYSHDNIICGITSV
                     SFSKSGRLLLAGYDDFNCNVWDALKADRAGVLAGHDNRVSCLGVTDDGMAVATGSWDS
                     FLKIWN"
     exon            421..459
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            460..566
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            567..630
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            631..793
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            794..860
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1062
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1279
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1395
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..3163
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3140..3145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /note="hexamer: AATAAA"
     polyA_site      3163
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /note="major polyA site"
ORIGIN      
        1 aggggcccgc cgcgcccatc ccgatggctg gaggcgtctg aggggcggac ggaggcggcg
       61 gcggcggcgg cgggagcggg agcgggcggc gagtggggag cggggccggg agtggagcag
      121 ccgccgcggc gggactggac cgagcctcgc cggcgcgcac ctgcccgcag cgcccgcgga
      181 gcgcgcagcg cggcccgagc gcgacgacct gccgagcggc ggccgaggcg gcggtgtggg
      241 cgcgtcaggc cgcgacgagg gcgctgagac aaatttacat gtattggaga ccagaccaga
      301 agcccttctg aattaagatc tcacattctt gaaggtggca ttgaagagca ctaagatcgg
      361 aagatgagtg agcttgacca gttacggcag gaggccgagc aacttaagaa ccagattcga
      421 gacgccagga aagcatgtgc agatgcaact ctctctcaga tcacaaacaa catcgaccca
      481 gtgggaagaa tccaaatgcg cacgaggagg acactgcggg ggcacctggc caagatctac
      541 gccatgcact ggggcacaga ctccaggctt ctcgtcagtg cctcgcagga tggtaaactt
      601 atcatctggg acagctacac caccaacaag gtccacgcca tccctctgcg ctcctcctgg
      661 gtcatgacct gtgcatatgc cccttctggg aactatgtgg cctgcggtgg cctggataac
      721 atttgctcca tttacaatct gaaaactcgt gaggggaacg tgcgcgtgag tcgtgagctg
      781 gcaggacaca caggttacct gtcctgctgc cgattcctgg atgacaatca gatcgtcacc
      841 agctctggag acaccacgtg tgccctgtgg gacatcgaga ccggccagca gacgaccacg
      901 tttaccggac acactggaga tgtcatgagc ctttctcttg ctcctgacac cagactgttc
      961 gtctctggtg cttgtgatgc ttcagccaaa ctctgggatg tgcgagaagg catgtgccgg
     1021 cagaccttca ctggccacga gtctgacatc aatgccattt gcttctttcc aaatggcaat
     1081 gcatttgcca ctggctcaga cgacgccacc tgcaggctgt ttgaccttcg tgctgaccag
     1141 gagctcatga cttactccca tgacaacatc atctgcggga tcacctctgt ctccttctcc
     1201 aagagcgggc gcctcctcct tgctgggtac gacgacttca actgcaacgt ctgggatgca
     1261 ctcaaagccg accgggcagg tgtcttggct gggcatgaca accgcgtcag ctgcctgggc
     1321 gtgactgacg atggcatggc tgtggcgaca gggtcctggg atagcttcct caagatctgg
     1381 aactaacgcc agtagcatgt ggatgccatg gagactggaa gaccattcca acttggacgc
     1441 gttaccatga gagcatatcc tatccaaccg tactaacgtg gacaccctac acctcccctc
     1501 agaacttcaa aagggcaaga tcttttttcc ttcacttatt gctgaaacca agagcacaat
     1561 tcccattgag agaaagatct ctgtgctgta aactaaaaca aattgtgcat tccttccggg
     1621 gccatcgtct ttgttttctt ttttgtcttg aatgaatttt aaaaggaaat atataataaa
     1681 aatgttaacc agaaggtaaa cttgagtgta attgtcagac agacacactt ttccaccagt
     1741 gtatttgaat tttagaccag tgaccctgtt ttgtggcatt catgcaaaac atgctgaggg
     1801 ctttgttcat ctggtcatcg tgtccaaatt tcagtcatgt ttgtagcaag attttggaag
     1861 cattcatatt tcctttttaa aatgtattcc tttgtgttca acagttaatc aaaaccagag
     1921 agtctagggc agcctctctg atgttgtcaa tgatgtaaat tcagtccctg gtttttaatt
     1981 ttctgtctga tgtcacagat cattgttgca cacaaacgtg gcatagaaaa gaacatgttc
     2041 agaagccatg gggccaagca catgcgggga cggtctcaaa tgcgtgatca gagaatcctt
     2101 cacctttgct gaaaagtgag ctcagatcca gcaccatgtt cctcctgacc catcctgtct
     2161 atcttctcag ttgagttttt aatctcactt tgggtttcct tgtgaagttg gagggaagtt
     2221 tataatagcc taacactacc ccacccccaa ctaggaggaa cctctgtttt caagagagat
     2281 gcctgtcctg tgcttggata gtcagtcaat tatttgtgta tgaaacaatg tacaaatcaa
     2341 tgttttgaaa ataatgatct cagactttct aagttaaatt ttaaaaattt tgattgtttg
     2401 ccatattggg tgggtttact cttagaatcg catgctgtag aaatgctcaa aagtgcatat
     2461 gggactcagt ccttaggtgt tctttttctt ttaagaaata acctcttaca gttgtaacca
     2521 ttgcggctct gtccacttct cgttgctgct ctgtggcaca tatcggaagc agtacagcgc
     2581 gcggctctac acgcttgggt agcgggataa gtcactgttt tctttatttc tttaaaaaaa
     2641 aaaaagttct gttgcaaacg actgctgttg gattctgagg gtggggaggg agagagaggg
     2701 agggagaggg agtgaagagc ctgccctcct atatggattc ttcagggccc tccacatctg
     2761 aggtggctca ttcccatcac acacagattg tcctggtgtt catttcaagg ccagtgttca
     2821 gcagcagcgt ttggaaagca ggttctgtgg gaccccccgc cccgcccccc gcactccttc
     2881 atagcagcag tagtggcttc tccatcctgt tttctgcaac attctataca aaactgtgct
     2941 gtgaccttgc ggtaggcctg gatctggcaa agagaataca aatgaaaccc cttctttctc
     3001 tttccgtcca acaactctgt agagctctct gcacccttac ccctttccac cttttgtatt
     3061 taattttaaa gtcagtgtac tgcaaggaag ctggatgcaa gatagatact atattaaact
     3121 gtactgttat ttaagatgta ataaagcagt ttgacatgag gga
//
