LOCUS       NM_001309840            1580 bp    mRNA    linear   PRI 18-OCT-2024
DEFINITION  Homo sapiens GNAS complex locus (GNAS), transcript variant 9, mRNA.
ACCESSION   NM_001309840 NR_003259
VERSION     NM_001309840.2
KEYWORDS    RefSeq.
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 1580)
  AUTHORS   Qi,J., Huang,Y. and Bian,Y.
  TITLE     GNAS, not a Highly Mutated Gene, Has Prognostic Significance and
            Carcinogenic Effects in Osteosarcoma
  JOURNAL   Cell Physiol Biochem 58 (5), 510-526 (2024)
   PUBMED   39305132
  REMARK    GeneRIF: GNAS, not a Highly Mutated Gene, Has Prognostic
            Significance and Carcinogenic Effects in Osteosarcoma.
REFERENCE   2  (bases 1 to 1580)
  AUTHORS   Crane,J.L., Shamblott,M.J., Axelman,J., Hsu,S., Levine,M.A. and
            Germain-Lee,E.L.
  TITLE     Imprinting status of Galpha(s), NESP55, and XLalphas in cell
            cultures derived from human embryonic germ cells: GNAS imprinting
            in human embryonic germ cells
  JOURNAL   Clin Transl Sci 2 (5), 355-360 (2009)
   PUBMED   20443919
  REMARK    GeneRIF: analysis of the imprinting Status of Galpha(s), NESP55,
            and XLalphas in cell cultures derived from human embryonic germ
            cells
REFERENCE   3  (bases 1 to 1580)
  AUTHORS   Bastepe,M.
  TITLE     The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha,
            XLalphas, and other Imprinted Transcripts
  JOURNAL   Curr Genomics 8 (6), 398-414 (2007)
   PUBMED   19412439
  REMARK    GeneRIF: GNAS locus has a highly complex imprinted expression
            pattern, giving rise to transcripts (including non-coding) that are
            maternally, paternally, or biallelically expressed.
REFERENCE   4  (bases 1 to 1580)
  AUTHORS   Jakobsen,A.M., Ahlman,H., Kolby,L., Abrahamsson,J.,
            Fischer-Colbrie,R. and Nilsson,O.
  TITLE     NESP55, a novel chromogranin-like peptide, is expressed in
            endocrine tumours of the pancreas and adrenal medulla but not in
            ileal carcinoids
  JOURNAL   Br J Cancer 88 (11), 1746-1754 (2003)
   PUBMED   12771991
  REMARK    GeneRIF: Neuroendocrine secretory protein 55 is found in a subset
            of neuroendocrine tumours showing differentiation towards adrenal
            chromaffin cells and pancreatic islets cells and not in ileal
            carcinoids
REFERENCE   5  (bases 1 to 1580)
  AUTHORS   Freson,K., Jaeken,J., Van Helvoirt,M., de Zegher,F.,
            Wittevrongel,C., Thys,C., Hoylaerts,M.F., Vermylen,J. and Van
            Geet,C.
  TITLE     Functional polymorphisms in the paternally expressed XLalphas and
            its cofactor ALEX decrease their mutual interaction and enhance
            receptor-mediated cAMP formation
  JOURNAL   Hum Mol Genet 12 (10), 1121-1130 (2003)
   PUBMED   12719376
REFERENCE   6  (bases 1 to 1580)
  AUTHORS   Weiss,U., Ischia,R., Eder,S., Lovisetti-Scamihorn,P., Bauer,R. and
            Fischer-Colbrie,R.
  TITLE     Neuroendocrine secretory protein 55 (NESP55): alternative splicing
            onto transcripts of the GNAS gene and posttranslational processing
            of a maternally expressed protein
  JOURNAL   Neuroendocrinology 71 (3), 177-186 (2000)
   PUBMED   10729789
REFERENCE   7  (bases 1 to 1580)
  AUTHORS   Ischia,R., Lovisetti-Scamihorn,P., Hogue-Angeletti,R.,
            Wolkersdorfer,M., Winkler,H. and Fischer-Colbrie,R.
  TITLE     Molecular cloning and characterization of NESP55, a novel
            chromogranin-like precursor of a peptide with 5-HT1B receptor
            antagonist activity
  JOURNAL   J Biol Chem 272 (17), 11657-11662 (1997)
   PUBMED   9111083
REFERENCE   8  (bases 1 to 1580)
  AUTHORS   Haldeman-Englert,C.R., Hurst,A.C.E. and Levine,M.A.
  TITLE     Disorders of GNAS Inactivation
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29072892
REFERENCE   9  (bases 1 to 1580)
  AUTHORS   Szymczuk,V., Florenzano,P., de Castro,L.F., Collins,M.T. and
            Boyce,A.M.
  TITLE     Fibrous Dysplasia / McCune-Albright Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25719192
REFERENCE   10 (bases 1 to 1580)
  AUTHORS   Weinstein,L.S., Gejman,P.V., de Mazancourt,P., American,N. and
            Spiegel,A.M.
  TITLE     A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1)
            in a patient with Albright hereditary osteodystrophy
  JOURNAL   Genomics 13 (4), 1319-1321 (1992)
   PUBMED   1505964
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL537118.3, CN403086.1,
            X56009.1 and X04408.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001309840.1.
            
            Summary: This locus has a highly complex imprinted expression
            pattern. It gives rise to maternally, paternally, and biallelically
            expressed transcripts that are derived from four alternative
            promoters and 5' exons. Some transcripts contain a differentially
            methylated region (DMR) at their 5' exons, and this DMR is commonly
            found in imprinted genes and correlates with transcript expression.
            An antisense transcript is produced from an overlapping locus on
            the opposite strand. One of the transcripts produced from this
            locus, and the antisense transcript, are paternally expressed
            noncoding RNAs, and may regulate imprinting in this region. In
            addition, one of the transcripts contains a second overlapping ORF,
            which encodes a structurally unrelated protein - Alex. Alternative
            splicing of downstream exons is also observed, which results in
            different forms of the stimulatory G-protein alpha subunit, a key
            element of the classical signal transduction pathway linking
            receptor-ligand interactions with the activation of adenylyl
            cyclase and a variety of cellular reponses. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            Mutations in this gene result in pseudohypoparathyroidism type 1a,
            pseudohypoparathyroidism type 1b, Albright hereditary
            osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright
            syndrome, progressive osseus heteroplasia, polyostotic fibrous
            dysplasia of bone, and some pituitary tumors. [provided by RefSeq,
            Aug 2012].
            
            Transcript Variant: This variant (9) is paternally expressed,
            contains an alternate 5' terminal exon (A/B or Exon 1A) and uses a
            downstream start codon, compared to variant 1. Variants 9 and 11
            encode the same isoform h (described in PMID:21713996), which has a
            shorter N-terminus, compared to isoform GNASL.
            
            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 :: X56009.1, ERR279840.2185.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 19412439
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AL537118.3         83-103
            22-55               CN403086.1         35-68
            56-138              AL537118.3         142-224
            139-427             X56009.1           180-468
            428-1580            X04408.1           461-1613
FEATURES             Location/Qualifiers
     source          1..1580
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     gene            1..1580
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /note="GNAS complex locus"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
     exon            1..174
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            175..247
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..1220
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /note="isoform h is encoded by transcript variant 9;
                     secretogranin VI; G protein subunit alpha S; guanine
                     nucleotide binding protein (G protein), alpha stimulating
                     activity polypeptide 1; guanine nucleotide regulatory
                     protein; adenylate cyclase-stimulating G alpha protein;
                     protein ALEX; extra large alphas protein; alternative gene
                     product encoded by XL-exon"
                     /codon_start=1
                     /product="protein ALEX isoform h"
                     /protein_id="NP_001296769.1"
                     /db_xref="CCDS:CCDS93068.1"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
                     /translation="MRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAI
                     ETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRA
                     CYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNF
                     HMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIW
                     NNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVT
                     RAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYEL
                     L"
     exon            248..292
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            293..347
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            348..467
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            468..565
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            566..620
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            621..694
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            695..753
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            754..874
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1005
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1073
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1580
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1558..1563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /note="hexamer: AATAAA"
     polyA_site      1580
                     /gene="GNAS"
                     /gene_synonym="AHO; AIMAH1; C20orf45; GNAS1; GPSA; GSA;
                     GSP; NESP; PITA3; POH; SCG6; SgVI"
                     /note="major polyA site"
ORIGIN      
        1 agtcgcgtcg gcaccgcgga gcgggctgcg tcaggtggct ggccggcgcg gcgctcccct
       61 gctctctggc tccgggctgc ggcgcggcgg ctggagcgag cccctgtccc ggcgcggggc
      121 ggcggcgggc ggccggcagg cgctgccttg cgtgtgagtg cacctcactc acatgtgctg
      181 gagaatctgg taaaagcacc attgtgaagc agatgaggat cctgcatgtt aatgggttta
      241 atggagaggg cggcgaagag gacccgcagg ctgcaaggag caacagcgat ggtgagaagg
      301 caaccaaagt gcaggacatc aaaaacaacc tgaaagaggc gattgaaacc attgtggccg
      361 ccatgagcaa cctggtgccc cccgtggagc tggccaaccc cgagaaccag ttcagagtgg
      421 actacatcct gagtgtgatg aacgtgcctg actttgactt ccctcccgaa ttctatgagc
      481 atgccaaggc tctgtgggag gatgaaggag tgcgtgcctg ctacgaacgc tccaacgagt
      541 accagctgat tgactgtgcc cagtacttcc tggacaagat cgacgtgatc aagcaggctg
      601 actatgtgcc gagcgatcag gacctgcttc gctgccgtgt cctgacttct ggaatctttg
      661 agaccaagtt ccaggtggac aaagtcaact tccacatgtt tgacgtgggt ggccagcgcg
      721 atgaacgccg caagtggatc cagtgcttca acgatgtgac tgccatcatc ttcgtggtgg
      781 ccagcagcag ctacaacatg gtcatccggg aggacaacca gaccaaccgc ctgcaggagg
      841 ctctgaacct cttcaagagc atctggaaca acagatggct gcgcaccatc tctgtgatcc
      901 tgttcctcaa caagcaagat ctgctcgctg agaaagtcct tgctgggaaa tcgaagattg
      961 aggactactt tccagaattt gctcgctaca ctactcctga ggatgctact cccgagcccg
     1021 gagaggaccc acgcgtgacc cgggccaagt acttcattcg agatgagttt ctgaggatca
     1081 gcactgccag tggagatggg cgtcactact gctaccctca tttcacctgc gctgtggaca
     1141 ctgagaacat ccgccgtgtg ttcaacgact gccgtgacat cattcagcgc atgcaccttc
     1201 gtcagtacga gctgctctaa gaagggaacc cccaaattta attaaagcct taagcacaat
     1261 taattaaaag tgaaacgtaa ttgtacaagc agttaatcac ccaccatagg gcatgattaa
     1321 caaagcaacc tttcccttcc cccgagtgat tttgcgaaac ccccttttcc cttcagcttg
     1381 cttagatgtt ccaaatttag aaagcttaag gcggcctaca gaaaaaggaa aaaaggccac
     1441 aaaagttccc tctcactttc agtaaaaata aataaaacag cagcagcaaa caaataaaat
     1501 gaaataaaag aaacaaatga aataaatatt gtgttgtgca gcattaaaaa aaatcaaaat
     1561 aaaaattaaa tgtgagcaaa
//
