LOCUS       NM_000158               2941 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.
ACCESSION   NM_000158
VERSION     NM_000158.4
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 2941)
  AUTHORS   Lefevre,C.R., Collardeau-Frachon,S., Streichenberger,N.,
            Berenguer-Martin,S., Clemenson,A., Massardier,J., Prieur,F.,
            Laurichesse,H., Laffargue,F., Acquaviva-Bourdain,C., Froissart,R.
            and Pettazzoni,M.
  TITLE     Severe neuromuscular forms of glycogen storage disease type IV:
            Histological, clinical, biochemical, and molecular findings in a
            large French case series
  JOURNAL   J Inherit Metab Dis 47 (2), 255-269 (2024)
   PUBMED   38012812
  REMARK    GeneRIF: Severe neuromuscular forms of glycogen storage disease
            type IV: Histological, clinical, biochemical, and molecular
            findings in a large French case series.
            Review article
REFERENCE   2  (bases 1 to 2941)
  AUTHORS   Uemura,M.T., Suh,E.R., Robinson,J.L., Brunden,K.R., Grossman,M.,
            Irwin,D.J., Lee,V.M., Trojanowski,J.Q., Lee,E.B. and Van
            Deerlin,V.M.
  TITLE     Abundant copathologies of polyglucosan bodies, frontotemporal lobar
            degeneration with TDP-43 inclusions and ageing-related tau
            astrogliopathy in a family with a GBE1 mutation
  JOURNAL   Neuropathol Appl Neurobiol 49 (1), e12865 (2023)
   PUBMED   36456471
  REMARK    GeneRIF: Abundant copathologies of polyglucosan bodies,
            frontotemporal lobar degeneration with TDP-43 inclusions and
            ageing-related tau astrogliopathy in a family with a GBE1 mutation.
REFERENCE   3  (bases 1 to 2941)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   4  (bases 1 to 2941)
  AUTHORS   Fanjul-Fernandez,M., Brown,N.J., Hickey,P., Diakumis,P., Rafehi,H.,
            Bozaoglu,K., Green,C.C., Rattray,A., Young,S., Alhuzaimi,D.,
            Mountford,H.S., Gillies,G., Lukic,V., Vick,T., Finlay,K., Coe,B.P.,
            Eichler,E.E., Delatycki,M.B., Wilson,S.J., Bahlo,M., Scheffer,I.E.
            and Lockhart,P.J.
  TITLE     A family study implicates GBE1 in the etiology of autism spectrum
            disorder
  JOURNAL   Hum Mutat 43 (1), 16-29 (2022)
   PUBMED   34633740
  REMARK    GeneRIF: A family study implicates GBE1 in the etiology of autism
            spectrum disorder.
REFERENCE   5  (bases 1 to 2941)
  AUTHORS   Tang,T.T., Segura,A.D., Chen,Y.T., Ricci,L.M., Franciosi,R.A.,
            Splaingard,M.L. and Lubinsky,M.S.
  TITLE     Neonatal hypotonia and cardiomyopathy secondary to type IV
            glycogenosis
  JOURNAL   Acta Neuropathol 87 (5), 531-536 (1994)
   PUBMED   8059607
REFERENCE   6  (bases 1 to 2941)
  AUTHORS   Thon,V.J., Khalil,M. and Cannon,J.F.
  TITLE     Isolation of human glycogen branching enzyme cDNAs by screening
            complementation in yeast
  JOURNAL   J Biol Chem 268 (10), 7509-7513 (1993)
   PUBMED   8463281
REFERENCE   7  (bases 1 to 2941)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 2941)
  AUTHORS   Magoulas,P.L. and El-Hattab,A.W.
  TITLE     Glycogen Storage Disease Type IV
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23285490
REFERENCE   9  (bases 1 to 2941)
  AUTHORS   Akman,H.O., Lossos,A. and Kakhlon,O.
  TITLE     GBE1 Adult Polyglucosan Body Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301758
REFERENCE   10 (bases 1 to 2941)
  AUTHORS   Brown,D.H. and Brown,B.I.
  TITLE     Studies of the residual glycogen branching enzyme activity present
            in human skin fibroblasts from patients with type IV glycogen
            storage disease
  JOURNAL   Biochem Biophys Res Commun 111 (2), 636-643 (1983)
   PUBMED   6220706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017015.4, AC025029.16 and
            AC099049.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000158.3.
            
            Summary: The protein encoded by this gene is a glycogen branching
            enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl
            units from the outer end of a glycogen chain to an alpha-1,6
            position on the same or a neighboring glycogen chain. Branching of
            the chains is essential to increase the solubility of the glycogen
            molecule and, consequently, in reducing the osmotic pressure within
            cells. Highest level of this enzyme are found in liver and muscle.
            Mutations in this gene are associated with glycogen storage disease
            IV (also known as Andersen's disease). [provided by RefSeq, Jul
            2008].
            
            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 :: L07956.1, AK125918.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000429644.7/ ENSP00000410833.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-271               AC017015.4         155155-155425       c
            272-441             AC017015.4         99224-99393         c
            442-557             AC017015.4         64618-64733         c
            558-683             AC017015.4         43576-43701         c
            684-819             AC017015.4         42636-42771         c
            820-910             AC017015.4         40172-40262         c
            911-1120            AC017015.4         36561-36770         c
            1121-1236           AC025029.16        14244-14359
            1237-1364           AC025029.16        17103-17230
            1365-1463           AC025029.16        22077-22175
            1464-1574           AC025029.16        26992-27102
            1575-1746           AC025029.16        30171-30342
            1747-1931           AC025029.16        71172-71356
            1932-2062           AC025029.16        72942-73072
            2063-2180           AC099049.2         161765-161882       c
            2181-2941           AC099049.2         152358-153118       c
FEATURES             Location/Qualifiers
     source          1..2941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.2"
     gene            1..2941
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="1,4-alpha-glucan branching enzyme 1"
                     /db_xref="GeneID:2632"
                     /db_xref="HGNC:HGNC:4180"
                     /db_xref="MIM:607839"
     exon            1..271
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..2237
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /EC_number="2.4.1.18"
                     /note="amylo-(1,4 to 1,6) transglucosidase; amylo-(1,4 to
                     1,6) transglycosylase; glycogen branching enzyme; brancher
                     enzyme; glucan (1,4-alpha-), branching enzyme 1"
                     /codon_start=1
                     /product="1,4-alpha-glucan-branching enzyme"
                     /protein_id="NP_000149.4"
                     /db_xref="CCDS:CCDS54612.1"
                     /db_xref="GeneID:2632"
                     /db_xref="HGNC:HGNC:4180"
                     /db_xref="MIM:607839"
                     /translation="MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVD
                     FQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTG
                     DFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPW
                     AKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKH
                     FTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTA
                     HSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEI
                     LRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTY
                     LMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEF
                     KDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTP
                     FTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQ
                     FHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFI
                     FNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYS
                     LLVYIPSRVALILQNVDLPN"
     exon            272..441
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            442..557
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            558..683
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            684..819
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            820..910
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1120
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1236
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1364
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1463
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1574
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1746
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1931
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..2062
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2180
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            2181..2941
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2763..2768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="hexamer: TATAAA"
     polyA_site      2788
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="major polyA site"
     regulatory      2922..2927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="hexamer: AATAAA"
     polyA_site      2941
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="major polyA site"
ORIGIN      
        1 cggcttgcct cgacacgcct aggcgccctc cggctccgcc ctagccgccg cgtcccagct
       61 agagctccag cgcccgctca ggccccactc gacctctcgg gcctcggcta cttggactgc
      121 ggcggaatat ggcggctccg atgactcccg cggctcggcc cgaggactac gaggcggcgc
      181 tcaatgccgc cctggctgac gtgcccgaac tggccagact cctggagatc gacccgtact
      241 tgaagcccta cgccgtggac ttccagcgca ggtataagca gtttagccaa attttgaaga
      301 acattggaga aaatgaaggt ggtattgata agttttccag aggctatgaa tcatttggcg
      361 tccacagatg tgctgatggt ggtttatact gcaaagaatg ggccccggga gcagaaggag
      421 tttttcttac tggagatttt aatggttgga atccattttc gtacccatac aaaaaactgg
      481 attatggaaa atgggagctg tatatcccac caaagcagaa taaatctgta ctcgtgcctc
      541 atggatccaa attaaaggta gttattacta gtaaaagcgg agagatcttg tatcgtattt
      601 caccgtgggc aaagtatgtg gttcgtgaag gtgataatgt gaattatgat tggatacact
      661 gggatccaga acactcatat gagtttaagc attccagacc aaagaagcca cggagtctaa
      721 gaatttatga atctcatgtg ggaatttctt cccatgaagg aaaagtagct tcttataaac
      781 attttacatg caatgtacta ccaagaatca aaggccttgg atacaactgc attcagttga
      841 tggcaatcat ggagcatgct tactatgcca gctttggtta ccaaatcaca agcttctttg
      901 cagcttccag ccgttatgga acacctgaag agctacaaga actggtagac acagctcatt
      961 ccatgggtat catagtcctc ttagatgtgg tacacagcca tgcttcaaaa aattcagcag
     1021 atggattgaa tatgtttgat gggacagatt cctgttattt tcattctgga cctagaggga
     1081 ctcatgatct ttgggatagc agattgtttg cctactccag ctgggaaatt ttaagattcc
     1141 ttctgtcaaa cataagatgg tggttggaag aatatcgctt tgatggattt cgttttgatg
     1201 gtgttacgtc catgctttat catcaccatg gagtgggtca aggtttctca ggtgattaca
     1261 gtgaatattt cggactacaa gtagatgaag atgccttgac ttacctcatg ttggcaaatc
     1321 atttggttca cacgctgtgt cccgattcta taacaatagc tgaggatgta tcaggaatgc
     1381 cagctctgtg ctctccaatt tcccagggag ggggtggttt tgactatcga ctagccatgg
     1441 caattccaga taagtggatt cagctactta aagagtttaa agatgaagac tggaacatgg
     1501 gcgatatagt atacacgctc acaaacaggc gctaccttga aaagtgcatt gcttatgcag
     1561 agagccatga tcaggcattg gttggggata agtcgctggc attttggttg atggatgccg
     1621 aaatgtatac aaacatgagt gtcctgactc cttttactcc agttattgat cgtggaatac
     1681 agcttcataa aatgattcga ctcattacgc atgggcttgg tggagaaggc tatctcaatt
     1741 tcatgggtaa tgaatttggg catcctgaat ggttagactt cccaagaaaa ggaaataatg
     1801 agagttacca ttatgccagg cggcagtttc atttaactga cgacgacctt cttcgctaca
     1861 agttcctaaa taattttgac agggatatga atagattgga agaaagatat ggttggcttg
     1921 cagctccaca ggcctacgtg agtgaaaaac atgaaggcaa taagatcatt gcttttgaaa
     1981 gagcaggtct tcttttcatt ttcaacttcc atccaagcaa gagctacact gactaccgag
     2041 ttggaacagc attgccaggg aaattcaaaa ttgtgctaga ttcagatgca gcggaatatg
     2101 gagggcatca gagactggac cacagcactg actttttttc tgaggctttt gaacataatg
     2161 ggcgtcccta ttctcttttg gtgtacattc caagcagagt ggccctcatc cttcagaatg
     2221 tggatctgcc gaattgaaga ggcctgattt cagctccacc agatgcagat ttgtgttttg
     2281 ttttcttgtt atcactgtca cacagcttat aacatgtatg cttttcagaa tacagttgtc
     2341 tagccaagcc atcaagtgtc tgaaattcaa tattggttta tgcaaataca gcaaactttt
     2401 atttaagtag atgggagaat atgtttaaaa tattaggaat cctagaccat attttcaagt
     2461 catcttagca gctaggattc tcaaatggaa gtgttatata taatatgtta aaaacatttt
     2521 gctttcctgg ctaattattt gatcctttta aattcaaatt tgaatcattt gtcatgtatg
     2581 attatttctg ttaaatgtac acagtattta agatggatat ttggtggctc tatttgttct
     2641 gatatctttt ggtctaaatt atgaggtacc aagattgttt ctttgtttct ttttttcaaa
     2701 ttgtgtttag aaatactgta ataaatatgc agtagtgata taaagaatta tatccaaggt
     2761 aatataaaag ccattacgta tgaactcatc cgtgtctcat tttgtgtttt attttgtgat
     2821 ctcttgtcca ctaagtatct tgttaaatgc cagtatctca gtctttctga agccctgaaa
     2881 tggtaattgt agcatttcag aaaatgtctt tcatttcaat caataaaaag cttttgtaaa
     2941 a
//
