LOCUS       NM_002103               3569 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens glycogen synthase 1 (GYS1), transcript variant 1,
            mRNA.
ACCESSION   NM_002103
VERSION     NM_002103.5
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 3569)
  AUTHORS   Fastman,N.M., Liu,Y., Ramanan,V., Merritt,H., Ambing,E.,
            DePaoli-Roach,A.A., Roach,P.J., Hurley,T.D., Mellem,K.T.,
            Ullman,J.C., Green,E., Morgans,D. Jr. and Tzitzilonis,C.
  TITLE     The structural mechanism of human glycogen synthesis by the
            GYS1-GYG1 complex
  JOURNAL   Cell Rep 40 (1), 111041 (2022)
   PUBMED   35793618
  REMARK    GeneRIF: The structural mechanism of human glycogen synthesis by
            the GYS1-GYG1 complex.
REFERENCE   2  (bases 1 to 3569)
  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   3  (bases 1 to 3569)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3569)
  AUTHORS   Testoni,G., Olmeda,B., Duran,J., Lopez-Rodriguez,E., Aguilera,M.,
            Hernandez-Alvarez,M.I., Prats,N., Perez-Gil,J. and Guinovart,J.J.
  TITLE     Pulmonary glycogen deficiency as a new potential cause of
            respiratory distress syndrome
  JOURNAL   Hum Mol Genet 29 (21), 3554-3565 (2021)
   PUBMED   33219378
  REMARK    GeneRIF: Pulmonary glycogen deficiency as a new potential cause of
            respiratory distress syndrome.
REFERENCE   5  (bases 1 to 3569)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3569)
  AUTHORS   Orho,M., Nikula-Ijas,P., Schalin-Jantti,C., Permutt,M.A. and
            Groop,L.C.
  TITLE     Isolation and characterization of the human muscle glycogen
            synthase gene
  JOURNAL   Diabetes 44 (9), 1099-1105 (1995)
   PUBMED   7657035
REFERENCE   7  (bases 1 to 3569)
  AUTHORS   Lofman,M., Yki-Jarvinen,H., Parkkonen,M., Lindstrom,J., Koranyi,L.,
            Schalin-Jantti,C. and Groop,L.
  TITLE     Increased concentrations of glycogen synthase protein in skeletal
            muscle of patients with NIDDM
  JOURNAL   Am J Physiol 269 (1 Pt 1), E27-E32 (1995)
   PUBMED   7631777
REFERENCE   8  (bases 1 to 3569)
  AUTHORS   Flotow,H., Graves,P.R., Wang,A.Q., Fiol,C.J., Roeske,R.W. and
            Roach,P.J.
  TITLE     Phosphate groups as substrate determinants for casein kinase I
            action
  JOURNAL   J Biol Chem 265 (24), 14264-14269 (1990)
   PUBMED   2117608
REFERENCE   9  (bases 1 to 3569)
  AUTHORS   Browner,M.F., Nakano,K., Bang,A.G. and Fletterick,R.J.
  TITLE     Human muscle glycogen synthase cDNA sequence: a negatively charged
            protein with an asymmetric charge distribution
  JOURNAL   Proc Natl Acad Sci U S A 86 (5), 1443-1447 (1989)
   PUBMED   2493642
REFERENCE   10 (bases 1 to 3569)
  AUTHORS   Rylatt,D.B., Aitken,A., Bilham,T., Condon,G.D., Embi,N. and
            Cohen,P.
  TITLE     Glycogen synthase from rabbit skeletal muscle. Amino acid sequence
            at the sites phosphorylated by glycogen synthase kinase-3, and
            extension of the N-terminal sequence containing the site
            phosphorylated by phosphorylase kinase
  JOURNAL   Eur J Biochem 107 (2), 529-537 (1980)
   PUBMED   6772446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP313940.1 and BC002617.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002103.4.
            
            Summary: The protein encoded by this gene catalyzes the addition of
            glucose monomers to the growing glycogen molecule through the
            formation of alpha-1,4-glycoside linkages. Mutations in this gene
            are associated with muscle glycogen storage disease. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR1660803.34801.1,
                                           SRR1660803.122420.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323798.8/ ENSP00000317904.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-409               BP313940.1         45-453
            410-3569            BC002617.2         393-3552
FEATURES             Location/Qualifiers
     source          1..3569
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3569
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /note="glycogen synthase 1"
                     /db_xref="GeneID:2997"
                     /db_xref="HGNC:HGNC:4706"
                     /db_xref="MIM:138570"
     exon            1..315
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..2411
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /EC_number="2.4.1.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycogen [starch] synthase, muscle; glycogen synthase 1
                     (muscle)"
                     /codon_start=1
                     /product="glycogen [starch] synthase, muscle isoform 1"
                     /protein_id="NP_002094.2"
                     /db_xref="CCDS:CCDS12747.1"
                     /db_xref="GeneID:2997"
                     /db_xref="HGNC:HGNC:4706"
                     /db_xref="MIM:138570"
                     /translation="MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIY
                     TVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVY
                     FGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTW
                     FLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAV
                     DFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDI
                     VTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEF
                     SNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDT
                     ANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLD
                     DSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSY
                     YEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQ
                     LTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYE
                     PNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAA
                     KDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLSTPSEPLSPTSSLGEERN"
     exon            316..497
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            498..689
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            690..875
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1020
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1138
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1259
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1366
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1426
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1505
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..1619
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1746
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1842
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1843..2006
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            2007..2087
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     exon            2088..3569
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3550..3555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /note="hexamer: AATACA"
     polyA_site      3569
                     /gene="GYS1"
                     /gene_synonym="GSY; GYS"
                     /note="major polyA site"
ORIGIN      
        1 agtgacgctg cggcctcctt ctgcctaggt cccaacgctt cggggcaggg gtgcggtctt
       61 gcaataggaa gccgagcgtc ttgcaagctt cccgtcgggc accagctact cggccccgca
      121 ccctacctgg tgcattccct agacacctcc ggggtcccta cctggagatc cccggagccc
      181 cccttcctgc gccagccatg cctttaaacc gcactttgtc catgtcctca ctgccaggac
      241 tggaggactg ggaggatgaa ttcgacctgg agaacgcagt gctcttcgaa gtggcctggg
      301 aggtggctaa caaggtgggt ggcatctaca cggtgctgca gacgaaggcg aaggtgacag
      361 gggacgaatg gggcgacaac tacttcctgg tggggccgta cacggagcag ggcgtgagga
      421 cccaggtgga actgctggag gcccccaccc cggccctgaa gaggacactg gattccatga
      481 acagcaaggg ctgcaaggtg tatttcgggc gctggctgat cgagggaggc cctctggtgg
      541 tgctcctgga cgtgggtgcc tcagcttggg ccctggagcg ctggaaggga gagctctggg
      601 atacctgcaa catcggagtg ccgtggtacg accgcgaggc caacgacgct gtcctctttg
      661 gctttctgac cacctggttc ctgggtgagt tcctggcaca gagtgaggag aagccacatg
      721 tggttgctca cttccatgag tggttggcag gcgttggact ctgcctgtgt cgtgcccggc
      781 gactgcctgt agcaaccatc ttcaccaccc atgccacgct gctggggcgc tacctgtgtg
      841 ccggtgccgt ggacttctac aacaacctgg agaacttcaa cgtggacaag gaagcagggg
      901 agaggcagat ctaccaccga tactgcatgg aaagggcggc agcccactgc gctcacgtct
      961 tcactactgt gtcccagatc accgccatcg aggcacagca cttgctcaag aggaaaccag
     1021 atattgtgac ccccaatggg ctgaatgtga agaagttttc tgccatgcat gagttccaga
     1081 acctccatgc tcagagcaag gctcgaatcc aggagtttgt gcggggccat ttttatgggc
     1141 atctggactt caacttggac aagaccttat acttctttat cgccggccgc tatgagttct
     1201 ccaacaaggg tgctgacgtc ttcctggagg cattggctcg gctcaactat ctgctcagag
     1261 tgaacggcag cgagcagaca gtggttgcct tcttcatcat gccagcgcgg accaacaatt
     1321 tcaacgtgga aaccctcaaa ggccaagctg tgcgcaaaca gctttgggac acggccaaca
     1381 cggtgaagga aaagttcggg aggaagcttt atgaatcctt actggttggg agccttcccg
     1441 acatgaacaa gatgctggat aaggaagact tcactatgat gaagagagcc atctttgcaa
     1501 cgcagcggca gtctttcccc cctgtgtgca cccacaatat gctggatgac tcctcagacc
     1561 ccatcctgac caccatccgc cgaatcggcc tcttcaatag cagtgccgac agggtgaagg
     1621 tgattttcca cccggagttc ctctcctcca caagccccct gctccctgtg gactatgagg
     1681 agtttgtccg tggctgtcac cttggagtct tcccctccta ctatgagcct tggggctaca
     1741 caccggctga gtgcacggtt atgggaatcc ccagtatctc caccaatctc tccggcttcg
     1801 gctgcttcat ggaggaacac atcgcagacc cctcagctta cggtatctac attcttgacc
     1861 ggcggttccg cagcctggat gattcctgct cgcagctcac ctccttcctc tacagtttct
     1921 gtcagcagag ccggcggcag cgtatcatcc agcggaaccg cacggagcgc ctctccgacc
     1981 ttctggactg gaaataccta ggccggtact atatgtctgc gcgccacatg gcgctgtcca
     2041 aggcctttcc agagcacttc acctacgagc ccaacgaggc ggatgcggcc caggggtacc
     2101 gctacccacg gccagcctcg gtgccaccgt cgccctcgct gtcacgacac tccagcccgc
     2161 accagagtga ggacgaggag gatccccgga acgggccgct ggaggaagac ggcgagcgct
     2221 acgatgagga cgaggaggcc gccaaggacc ggcgcaacat ccgtgcacca gagtggccgc
     2281 gccgagcgtc ctgcacctcc tccaccagcg gcagcaagcg caactctgtg gacacggcca
     2341 cctccagctc actcagcacc ccgagcgagc ccctcagccc caccagctcc ctgggcgagg
     2401 agcgtaacta agtccgcccc accacactcc ccgcctgtcc tgcctctctg ctccagagag
     2461 aggatgcaga ggggtgctgc tcctaaaccc ccgctccaga tctgcactgg gtgtggcccc
     2521 gcagtgcccc cacccagtcc gccaaacact ccaccccctc cagctccagt ttccaagttc
     2581 ctgcactcca gaatccacaa agccgtgcct ttctctggct ccagaatatg cataatcagc
     2641 gccctggagt cccctgggcc tggaccgctt cccagaggcc aggaatctgc cattactctg
     2701 cggtggtgcc agaggtttta ggaaacctgg catggtgctt tcaggtctgg ggcttttaga
     2761 gccccccgtg tggcttacaa attctacagc atacagagca ggccacgctc aggcccggca
     2821 tgcgggccac caagttctgg aaaccacgtg gtgtccctgc gaatggggcg atcaagtcca
     2881 gagccggggc actttcagag tttgaaggta actgagagca gatggtcctc catttcaact
     2941 ccagaagtgg ggctctggga gggatgttct agccctccct ggcatgtcag agccaggctc
     3001 tgcctggagg atccctccat ccggctcctg tcatccccta cactttggcc aagcaagagg
     3061 tggtagaacc acttggctgc tcattccttc tggaggacac acagtctcag tccagatgcc
     3121 ttcctgtctt tctggccctt tctggaccag atcctactct tcctttctaa atctgagatc
     3181 tccctccagg gaatccgcct gcagaggaca gagctggctg tcttccccca cccctaacct
     3241 ggcttattcc caactgctct gcccactgtg aaaccactag gttctaggtc ctggcttcta
     3301 gatctggaac cttaccacgt tactgcatac tgatcccttt cccatgatcc agaactgagg
     3361 tcactgggtt ctagaacccc cacatttacc tcgaggctct tccatcccca aactgtgccc
     3421 tgccttcagc tttggtgaaa gggagggccc ctcatgtgtg ctgtgctgtg tctgcaccgc
     3481 ttggtttgca gttgagaggg gagggcagga ggggtgtgat tggagtgtgt ccggagatga
     3541 gatgaaaaaa atacatctat atttaagaa
//
