LOCUS       NM_001164277            2816 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens solute carrier family 37 member 4 (SLC37A4),
            transcript variant 1, mRNA.
ACCESSION   NM_001164277
VERSION     NM_001164277.2
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 2816)
  AUTHORS   Tanigaki,K., Matsumura,R., Sasaki,N., Kato,Y., Tamamori,T.,
            Yamaga,S., Nakamura,E., Sakanaka,A., Kuboniwa,M., Matsusaki,M.,
            Amano,A. and Takeuchi,H.
  TITLE     SLC37A4, gene responsible for glycogen storage disease type 1b,
            regulates gingival epithelial barrier function via JAM1 expression
  JOURNAL   Sci Rep 14 (1), 24797 (2024)
   PUBMED   39433915
  REMARK    GeneRIF: SLC37A4, gene responsible for glycogen storage disease
            type 1b, regulates gingival epithelial barrier function via JAM1
            expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2816)
  AUTHORS   Wang,Z., Zhao,R., Jia,X., Li,X., Ma,L. and Fu,H.
  TITLE     Three novel SLC37A4 variants in glycogen storage disease type 1b
            and a literature review
  JOURNAL   J Int Med Res 51 (12), 3000605231216633 (2023)
   PUBMED   38087503
  REMARK    GeneRIF: Three novel SLC37A4 variants in glycogen storage disease
            type 1b and a literature review.
            Review article
REFERENCE   3  (bases 1 to 2816)
  AUTHORS   Ng,B.G., Sosicka,P., Fenaille,F., Harroche,A.,
            Vuillaumier-Barrot,S., Porterfield,M., Xia,Z.J., Wagner,S.,
            Bamshad,M.J., Vergnes-Boiteux,M.C., Cholet,S., Dalton,S., Dell,A.,
            Dupre,T., Fiore,M., Haslam,S.M., Huguenin,Y., Kumagai,T., Kulik,M.,
            McGoogan,K., Michot,C., Nickerson,D.A., Pascreau,T., Borgel,D.,
            Raymond,K., Warad,D., Flanagan-Steet,H., Steet,R., Tiemeyer,M.,
            Seta,N., Bruneel,A. and Freeze,H.H.
  CONSRTM   University of Washington Center for Mendelian Genomics (UW-CMG)
  TITLE     A mutation in SLC37A4 causes a dominantly inherited congenital
            disorder of glycosylation characterized by liver dysfunction
  JOURNAL   Am J Hum Genet 108 (6), 1040-1052 (2021)
   PUBMED   33964207
  REMARK    GeneRIF: A mutation in SLC37A4 causes a dominantly inherited
            congenital disorder of glycosylation characterized by liver
            dysfunction.
REFERENCE   4  (bases 1 to 2816)
  AUTHORS   Xu,Q., Tang,H., Duan,L., Zuo,X., Shi,X., Li,Y., Zhao,H. and
            Zhang,H.
  TITLE     A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly
            causes enhanced leukocytes endoplasmic reticulum stress and
            apoptosis
  JOURNAL   Mol Genet Genomic Med 9 (1), e1568 (2021)
   PUBMED   33280276
  REMARK    GeneRIF: A novel SLC37A4 missense mutation in GSD-Ib without
            hepatomegaly causes enhanced leukocytes endoplasmic reticulum
            stress and apoptosis.
REFERENCE   5  (bases 1 to 2816)
  AUTHORS   Veiga-da-Cunha,M., Gerin,I., Chen,Y.T., de Barsy,T., de Lonlay,P.,
            Dionisi-Vici,C., Fenske,C.D., Lee,P.J., Leonard,J.V., Maire,I.,
            McConkie-Rosell,A., Schweitzer,S., Vikkula,M. and Van
            Schaftingen,E.
  TITLE     A gene on chromosome 11q23 coding for a putative glucose-
            6-phosphate translocase is mutated in glycogen-storage disease
            types Ib and Ic
  JOURNAL   Am J Hum Genet 63 (4), 976-983 (1998)
   PUBMED   9758626
REFERENCE   6  (bases 1 to 2816)
  AUTHORS   Annabi,B., Hiraiwa,H., Mansfield,B.C., Lei,K.J., Ubagai,T.,
            Polymeropoulos,M.H., Moses,S.W., Parvari,R., Hershkovitz,E.,
            Mandel,H., Fryman,M. and Chou,J.Y.
  TITLE     The gene for glycogen-storage disease type 1b maps to chromosome
            11q23
  JOURNAL   Am J Hum Genet 62 (2), 400-405 (1998)
   PUBMED   9463334
REFERENCE   7  (bases 1 to 2816)
  AUTHORS   Ihara,K., Takabayashi,A., Terasaki,K. and Hara,T.
  TITLE     Assignment1 of glucose 6-phosphate translocase (G6PT1) to human
            chromosome band 11q23.3 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 50-51 (1998)
   PUBMED   9925924
REFERENCE   8  (bases 1 to 2816)
  AUTHORS   Gerin,I., Veiga-da-Cunha,M., Achouri,Y., Collet,J.F. and Van
            Schaftingen,E.
  TITLE     Sequence of a putative glucose 6-phosphate translocase, mutated in
            glycogen storage disease type Ib
  JOURNAL   FEBS Lett 419 (2-3), 235-238 (1997)
   PUBMED   9428641
REFERENCE   9  (bases 1 to 2816)
  AUTHORS   Bali,D.S., El-Gharbawy,A., Austin,S., Pendyal,S. and Kishnani,P.S.
  TITLE     Glycogen Storage Disease Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301489
REFERENCE   10 (bases 1 to 2816)
  AUTHORS   Narisawa,K., Igarashi,Y., Otomo,H. and Tada,K.
  TITLE     A new variant of glycogen storage disease type I probably due to a
            defect in the glucose-6-phosphate transport system
  JOURNAL   Biochem Biophys Res Commun 83 (4), 1360-1364 (1978)
   PUBMED   212064
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003392.2 and FP885832.1.
            
            On Sep 2, 2020 this sequence version replaced NM_001164277.1.
            
            Summary: This gene regulates glucose-6-phosphate transport from the
            cytoplasm to the lumen of the endoplasmic reticulum, in order to
            maintain glucose homeostasis. It also plays a role in ATP-mediated
            calcium sequestration in the lumen of the endoplasmic reticulum.
            Mutations in this gene have been associated with various forms of
            glycogen storage disease. Alternative splicing in this gene results
            in multiple transcript variants.[provided by RefSeq, Aug 2009].
            
            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 :: AK289642.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642844.3/ ENSP00000493469.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                AP003392.2         121914-121942       c
            30-533              AP003392.2         121297-121800       c
            534-876             AP003392.2         120287-120629       c
            877-1109            AP003392.2         119259-119491       c
            1110-1353           FP885832.1         151-394             c
            1354-1512           AP003392.2         118002-118160       c
            1513-1598           AP003392.2         117668-117753       c
            1599-1712           AP003392.2         117032-117145       c
            1713-1851           AP003392.2         116256-116394       c
            1852-2816           AP003392.2         115177-116141       c
FEATURES             Location/Qualifiers
     source          1..2816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..2816
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /note="solute carrier family 37 member 4"
                     /db_xref="GeneID:2542"
                     /db_xref="HGNC:HGNC:4061"
                     /db_xref="MIM:602671"
     exon            1..29
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            30..533
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            534..876
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     CDS             729..2018
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glucose-6-phosphate translocase; glucose-6-phosphatase,
                     transport (glucose-6-phosphate) protein 1;
                     glucose-6-phosphatase, transport (phosphate/pyrophosphate)
                     protein 2; glucose-6-phosphatase, transport (glucose)
                     protein 3; microsomal glucose-6-phosphate transporter;
                     glucose-5-phosphate transporter; transformation-related
                     gene 19 protein; solute carrier family 37
                     (glucose-6-phosphate transporter), member 4;
                     glucose-6-phosphate exchanger SLC37A4;
                     glucose-6-phosphatase transporter; sugar-phosphate
                     exchange protein 4"
                     /codon_start=1
                     /product="glucose-6-phosphate exchanger SLC37A4 isoform 1"
                     /protein_id="NP_001157749.1"
                     /db_xref="GeneID:2542"
                     /db_xref="HGNC:HGNC:4061"
                     /db_xref="MIM:602671"
                     /translation="MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPL
                     DKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPV
                     FAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
                     QSYSWRSTLALSGALCVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQ
                     ELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVG
                     SIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVL
                     GAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYS
                     WSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE"
     exon            877..1109
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1353
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1512
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1598
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1712
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1851
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..2816
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2551..2556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /note="hexamer: ATTAAA"
     polyA_site      2574
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /note="major polyA site"
     regulatory      2794..2799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
                     /note="hexamer: ATTAAA"
     polyA_site      2816
                     /gene="SLC37A4"
                     /gene_synonym="CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b;
                     GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19"
ORIGIN      
        1 gtcctattcg ggctcccgcc tctgttcagt tccagagaca attcatgggt cttggggcca
       61 ccgaggcgct gtccctgacc accagcacga gacccctttc tatcgcgcca gtcctgtggt
      121 ctccgcacct ctccagctcc tgcacccccg gcccccgtgg ttcccagccg cacagtagcg
      181 tgtcctgggt agcgtgagga cccacggggc tgggcaggtg ccacgagccc gccgcctctt
      241 cgccgcccgc cgcctctcct cctctcccgc ccgccgcctg gccctcccct accaggctga
      301 gcctctgggt gccagaagcg cggggcctcc gggagaatac gtgcggtcgc ccgctccgcg
      361 tgcgcctacg ccttctgctc cagttgcttt cccaattgag cggaaaagcc ggggcatgtt
      421 gccggggccc tgggcgggac ggttgtgccc tgcagcccga agcccgccgg ggcaccttcc
      481 cgcccacgag ctgcccagtc cctctgcttg cggcccctgc caacgtccca caggacactg
      541 ggtccccttg gagcctcccc aggcttaatg attgtccaga aggcggctat aaagggagcc
      601 tgggaggctg ggtggaggag ggagcagaaa aaacccaact cagcagatct gggaactgtg
      661 agagcggcaa gcaggaactg tggtcagagg ctgtgcgtct tggctggtag ggcctgctct
      721 tttctaccat ggcagcccag ggctatggct attatcgcac tgtgatcttc tcagccatgt
      781 ttgggggcta cagcctgtat tacttcaatc gcaagacctt ctcctttgtc atgccatcat
      841 tggtggaaga gatccctttg gacaaggatg atttggggtt catcaccagc agccagtcgg
      901 cagcttatgc tatcagcaag tttgtcagtg gggtgctgtc tgaccagatg agtgctcgct
      961 ggctcttctc ttctgggctg ctcctggttg gcctggtcaa catattcttt gcctggagct
     1021 ccacagtacc tgtctttgct gccctctggt tccttaatgg cctggcccag gggctgggct
     1081 ggcccccatg tgggaaggtc ctgcggaagt ggtttgagcc atctcagttt ggcacttggt
     1141 gggccatcct gtcaaccagc atgaacctgg ctggagggct gggccctatc ctggcaacca
     1201 tccttgccca gagctacagc tggcgcagca cgctggccct atctggggca ctgtgtgtgg
     1261 ttgtctcctt cctctgtctc ctgctcatcc acaatgaacc tgctgatgtt ggactccgca
     1321 acctggaccc catgccctct gagggcaaga agggctcctt gaaggaggag agcaccctgc
     1381 aggagctgct gctgtcccct tacctgtggg tgctctccac tggttacctt gtggtgtttg
     1441 gagtaaagac ctgctgtact gactggggcc agttcttcct tatccaggag aaaggacagt
     1501 cagcccttgt aggtagctcc tacatgagtg ccctggaagt tgggggcctt gtaggcagca
     1561 tcgcagctgg ctacctgtca gaccgggcca tggcaaaggc gggactgtcc aactacggga
     1621 accctcgcca tggcctgttg ctgttcatga tggctggcat gacagtgtcc atgtacctct
     1681 tccgggtaac agtgaccagt gactccccca agctctggat cctggtattg ggagctgtat
     1741 ttggtttctc ctcgtatggc cccattgccc tgtttggagt catagccaac gagagtgccc
     1801 ctcccaactt gtgtggcacc tcccacgcca ttgtgggact catggccaat gtgggcggct
     1861 ttctggctgg gctgcccttc agcaccattg ccaagcacta cagttggagc acagccttct
     1921 gggtggctga agtgatttgt gcggccagca cggctgcctt cttcctccta cgaaacatcc
     1981 gcaccaagat gggccgagtg tccaagaagg ctgagtgaag agagtccagg ttccggagca
     2041 ccatcccacg gtggccttcc ccctgcacgc tctgcgggga gaaaaggagg ggcctgcctg
     2101 gctagccctg aacctttcac tttccatttc tgcgcctttt ctgtcacccg ggtggcgctg
     2161 gaagttatca gtggctagtg aggtcccagc tccctgatcc tatgctctat ttaaaagata
     2221 acctttggcc ttagactccg ttagctccta tttcctgcct tcagacaaac aggaaacttc
     2281 tgcagtcagg aaggctcctg tacccttctt cttttcctag gccctgtcct gcccgcatcc
     2341 taccccatcc ccacctgaag tgaggctatc cctgcagctg cagggcacta atgacccttg
     2401 acttctgctg ggtcctaagt cctctcagca gtgggtgact gctgttgcca atacctcaga
     2461 ctccagggaa agagaggagg ccatcattct cactgtacca ctaggcgcag ttggatatag
     2521 gtgggaagaa aaggtgactt gttatagaag attaaaacta gatttgatac tgaacactgt
     2581 cagtgattca ttttttcaaa gtgagacagc ttccttggga aatattgtca atacctgctc
     2641 tttccacccc aaaatggaaa gacttcattt ccctggaatg gggaagctga agtgtagatg
     2701 gactccttta aaactcatgc ctcctctgcc ttcacctgaa cattgaatag ttcaatgatt
     2761 attttagaga taaagctatt gggttgtgga cagattaaat aacttgatgg agggaa
//
