LOCUS       NM_006516               3384 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens solute carrier family 2 member 1 (SLC2A1), mRNA.
ACCESSION   NM_006516
VERSION     NM_006516.4
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 3384)
  AUTHORS   Pei,J., Liao,Y., Bai,X., Li,M., Wang,J., Li,X., Zhang,H., Sui,L.
            and Kong,Y.
  TITLE     Dysregulated GLUT1 results in the pathogenesis of preeclampsia by
            impairing the function of trophoblast cells
  JOURNAL   Sci Rep 14 (1), 23761 (2024)
   PUBMED   39390043
  REMARK    GeneRIF: Dysregulated GLUT1 results in the pathogenesis of
            preeclampsia by impairing the function of trophoblast cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3384)
  AUTHORS   Olivotto,S., Freddi,A., Previtali,R., Mauri,A., Cereda,C., De
            Amicis,R., Bertoli,S., Doneda,C. and Veggiotti,P.
  TITLE     Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1
            Deficiency Syndrome
  JOURNAL   Pediatr Neurol 157, 118-126 (2024)
   PUBMED   38914025
  REMARK    GeneRIF: Stroke and Stroke-Like Episodes: Recurrent Manifestations
            in GLUT1 Deficiency Syndrome.
REFERENCE   3  (bases 1 to 3384)
  AUTHORS   Giugno,A., Falcone,E., Fortunato,F., Sammarra,I., Procopio,R.,
            Gagliardi,M., Bauleo,A., de Stefano,L., Martino,I. and
            Gambardella,A.
  TITLE     Glucose transporter-1 deficiency syndrome with extreme phenotypic
            variability in a five-generation family carrying a novel SLC2A1
            variant
  JOURNAL   Eur J Neurol 31 (8), e16325 (2024)
   PUBMED   38803061
  REMARK    GeneRIF: Glucose transporter-1 deficiency syndrome with extreme
            phenotypic variability in a five-generation family carrying a novel
            SLC2A1 variant.
REFERENCE   4  (bases 1 to 3384)
  AUTHORS   Zhou,Z., Li,Y., Chen,S., Xie,Z., Du,Y., Liu,Y., Shi,Y., Lin,X.,
            Zeng,X., Zhao,H. and Chen,G.
  TITLE     GLUT1 promotes cell proliferation via binds and stabilizes
            phosphorylated EGFR in lung adenocarcinoma
  JOURNAL   Cell Commun Signal 22 (1), 303 (2024)
   PUBMED   38831321
  REMARK    GeneRIF: GLUT1 promotes cell proliferation via binds and stabilizes
            phosphorylated EGFR in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3384)
  AUTHORS   Manel,N., Kim,F.J., Kinet,S., Taylor,N., Sitbon,M. and Battini,J.L.
  TITLE     The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV
  JOURNAL   Cell 115 (4), 449-459 (2003)
   PUBMED   14622599
  REMARK    GeneRIF: GLUT-1 is a receptor for HTLV
REFERENCE   6  (bases 1 to 3384)
  AUTHORS   Wang,D., Pascual,J.M. and De Vivo,D.
  TITLE     Glucose Transporter Type 1 Deficiency Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301603
REFERENCE   7  (bases 1 to 3384)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   8  (bases 1 to 3384)
  AUTHORS   Hebert,D.N. and Carruthers,A.
  TITLE     Glucose transporter oligomeric structure determines transporter
            function. Reversible redox-dependent interconversions of tetrameric
            and dimeric GLUT1
  JOURNAL   J Biol Chem 267 (33), 23829-23838 (1992)
   PUBMED   1429721
REFERENCE   9  (bases 1 to 3384)
  AUTHORS   De Vivo,D.C., Trifiletti,R.R., Jacobson,R.I., Ronen,G.M.,
            Behmand,R.A. and Harik,S.I.
  TITLE     Defective glucose transport across the blood-brain barrier as a
            cause of persistent hypoglycorrhachia, seizures, and developmental
            delay
  JOURNAL   N Engl J Med 325 (10), 703-709 (1991)
   PUBMED   1714544
REFERENCE   10 (bases 1 to 3384)
  AUTHORS   Holman,G.D., Kozka,I.J., Clark,A.E., Flower,C.J., Saltis,J.,
            Habberfield,A.D., Simpson,I.A. and Cushman,S.W.
  TITLE     Cell surface labeling of glucose transporter isoform GLUT4 by
            bis-mannose photolabel. Correlation with stimulation of glucose
            transport in rat adipose cells by insulin and phorbol ester
  JOURNAL   J Biol Chem 265 (30), 18172-18179 (1990)
   PUBMED   2211693
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB208987.1, BG682043.1,
            AF070544.1, BI490999.1, BQ948542.1, AW137914.1 and AC099795.2.
            
            On Feb 13, 2020 this sequence version replaced NM_006516.3.
            
            Summary: This gene encodes a major glucose transporter in the
            mammalian blood-brain barrier. The encoded protein is found
            primarily in the cell membrane and on the cell surface, where it
            can also function as a receptor for human T-cell leukemia virus
            (HTLV) I and II. Mutations in this gene have been found in a family
            with paroxysmal exertion-induced dyskinesia. [provided by RefSeq,
            Apr 2013].
            
            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 :: AK292791.1, SRR14038195.1182231.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000426263.10/ ENSP00000416293.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1084              AB208987.1         29-1112
            1085-1606           BG682043.1         236-757
            1607-2499           AF070544.1         943-1835
            2500-2906           BI490999.1         19-425              c
            2907-3026           BQ948542.1         238-357
            3027-3362           AW137914.1         18-353              c
            3363-3384           AC099795.2         33790-33811         c
FEATURES             Location/Qualifiers
     source          1..3384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..3384
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="solute carrier family 2 member 1"
                     /db_xref="GeneID:6513"
                     /db_xref="HGNC:HGNC:11005"
                     /db_xref="MIM:138140"
     exon            1..235
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..1696
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="hepG2 glucose transporter; glucose transporter type
                     1, erythrocyte/brain; human T-cell leukemia virus (I and
                     II) receptor; receptor for HTLV-1 and HTLV-2; solute
                     carrier family 2 (facilitated glucose transporter), member
                     1; choreoathetosis/spasticity, episodic (paroxysmal
                     choreoathetosis/spasticity); dystonia gene 18; dystonia
                     gene 9"
                     /codon_start=1
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 1"
                     /protein_id="NP_006507.2"
                     /db_xref="CCDS:CCDS477.1"
                     /db_xref="GeneID:6513"
                     /db_xref="HGNC:HGNC:11005"
                     /db_xref="MIM:138140"
                     /translation="MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFY
                     NQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLL
                     AFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
                     QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINR
                     NEENRAKSVLKKLRGTADVTHDLQEMKEESRQMMREKKVTILELFRSPAYRQPILIAV
                     VLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRR
                     TLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVA
                     ELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYF
                     KVPETKGRTFDEIASGFRQGGASQSDKTPEELFHPLGADSQV"
     exon            236..331
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            332..492
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            493..733
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            734..896
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1084
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1189
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1291
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1495
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..3384
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2473..2478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="hexamer: ATTAAA"
     polyA_site      2499
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="major polyA site"
     regulatory      2559..2564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="hexamer: TATAAA"
     polyA_site      2581
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="major polyA site"
     regulatory      2760..2765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="hexamer: AATATA"
     polyA_site      2782
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
     regulatory      2888..2893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="hexamer: AGTAAA"
     polyA_site      2906
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
     regulatory      3339..3344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
                     /note="hexamer: AATAAA"
     polyA_site      3384
                     /gene="SLC2A1"
                     /gene_synonym="CSE; DYT17; DYT18; DYT9; EIG12; GLUT;
                     GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN"
ORIGIN      
        1 aagaggcaag aggtagcaac agcgagcgtg ccggtcgcta gtcgcgggtc cccgagtgag
       61 cacgccaggg agcaggagac caaacgacgg gggtcggagt cagagtcgca gtgggagtcc
      121 ccggaccgga gcacgagcct gagcgggaga gcgccgctcg cacgcccgtc gccacccgcg
      181 tacccggcgc agccagagcc accagcgcag cgctgccatg gagcccagca gcaagaagct
      241 gacgggtcgc ctcatgctgg ccgtgggagg agcagtgctt ggctccctgc agtttggcta
      301 caacactgga gtcatcaatg ccccccagaa ggtgatcgag gagttctaca accagacatg
      361 ggtccaccgc tatggggaga gcatcctgcc caccacgctc accacgctct ggtccctctc
      421 agtggccatc ttttctgttg ggggcatgat tggctccttc tctgtgggcc ttttcgttaa
      481 ccgctttggc cggcggaatt caatgctgat gatgaacctg ctggccttcg tgtccgccgt
      541 gctcatgggc ttctcgaaac tgggcaagtc ctttgagatg ctgatcctgg gccgcttcat
      601 catcggtgtg tactgcggcc tgaccacagg cttcgtgccc atgtatgtgg gtgaagtgtc
      661 acccacagcc cttcgtgggg ccctgggcac cctgcaccag ctgggcatcg tcgtcggcat
      721 cctcatcgcc caggtgttcg gcctggactc catcatgggc aacaaggacc tgtggcccct
      781 gctgctgagc atcatcttca tcccggccct gctgcagtgc atcgtgctgc ccttctgccc
      841 cgagagtccc cgcttcctgc tcatcaaccg caacgaggag aaccgggcca agagtgtgct
      901 aaagaagctg cgcgggacag ctgacgtgac ccatgacctg caggagatga aggaagagag
      961 tcggcagatg atgcgggaga agaaggtcac catcctggag ctgttccgct cccccgccta
     1021 ccgccagccc atcctcatcg ctgtggtgct gcagctgtcc cagcagctgt ctggcatcaa
     1081 cgctgtcttc tattactcca cgagcatctt cgagaaggcg ggggtgcagc agcctgtgta
     1141 tgccaccatt ggctccggta tcgtcaacac ggccttcact gtcgtgtcgc tgtttgtggt
     1201 ggagcgagca ggccggcgga ccctgcacct cataggcctc gctggcatgg cgggttgtgc
     1261 catactcatg accatcgcgc tagcactgct ggagcagcta ccctggatgt cctatctgag
     1321 catcgtggcc atctttggct ttgtggcctt ctttgaagtg ggtcctggcc ccatcccatg
     1381 gttcatcgtg gctgaactct tcagccaggg tccacgtcca gctgccattg ccgttgcagg
     1441 cttctccaac tggacctcaa atttcattgt gggcatgtgc ttccagtatg tggagcaact
     1501 gtgtggtccc tacgtcttca tcatcttcac tgtgctcctg gttctgttct tcatcttcac
     1561 ctacttcaaa gttcctgaga ctaaaggccg gaccttcgat gagatcgctt ccggcttccg
     1621 gcagggggga gccagccaaa gtgacaagac acccgaggag ctgttccatc ccctgggggc
     1681 tgattcccaa gtgtgagtcg ccccagatca ccagcccggc ctgctcccag cagccctaag
     1741 gatctctcag gagcacaggc agctggatga gacttccaaa cctgacagat gtcagccgag
     1801 ccgggcctgg ggctcctttc tccagccagc aatgatgtcc agaagaatat tcaggactta
     1861 acggctccag gattttaaca aaagcaagac tgttgctcaa atctattcag acaagcaaca
     1921 ggttttataa tttttttatt actgattttg ttatttttat atcagcctga gtctcctgtg
     1981 cccacatccc aggcttcacc ctgaatggtt ccatgcctga gggtggagac taagccctgt
     2041 cgagacactt gccttcttca cccagctaat ctgtagggct ggacctatgt cctaaggaca
     2101 cactaatcga actatgaact acaaagcttc tatcccagga ggtggctatg gccacccgtt
     2161 ctgctggcct ggatctcccc actctagggg tcaggctcca ttaggatttg ccccttccca
     2221 tctcttccta cccaaccact caaattaatc tttctttacc tgagaccagt tgggagcact
     2281 ggagtgcagg gaggagaggg gaagggccag tctgggctgc cgggttctag tctcctttgc
     2341 actgagggcc acactattac catgagaaga gggcctgtgg gagcctgcaa actcactgct
     2401 caagaagaca tggagactcc tgccctgttg tgtatagatg caagatattt atatatattt
     2461 ttggttgtca atattaaata cagacactaa gttatagtat atctggacaa gccaacttgt
     2521 aaatacacca cctcactcct gttacttacc taaacagata taaatggctg gtttttagaa
     2581 acatggtttt gaaatgcttg tggattgagg gtaggaggtt tggatgggag tgagacagaa
     2641 gtaagtgggg ttgcaaccac tgcaacggct tagacttcga ctcaggatcc agtcccttac
     2701 acgtacctct catcagtgtc ctcttgctca aaaatctgtt tgatccctgt tacccagaga
     2761 atatatacat tctttatctt gacattcaag gcatttctat cacatatttg atagttggtg
     2821 ttcaaaaaaa cactagtttt gtgccagccg tgatgctcag gcttgaaatg cattattttg
     2881 aatgtgaagt aaatactgta cctttattgg acaggctcaa agaggttatg tgcctgaagt
     2941 cgcacagtga ataagctaaa acacctgctt ttaacaatgg taccatacaa ccactactcc
     3001 attaactcca cccacctcct gcacccctcc ccacacacac aaaatgaacc acgttctttg
     3061 tatgggccca atgagctgtc aagctgccct gtgttcattt catttggaat tgccccctct
     3121 ggttcctctg tatactactg cttcatctct aaagacagct catcctcctc cttcacccct
     3181 gaatttccag agcacttcat ctgctccttc atcacaagtc cagttttctg ccactagtct
     3241 gaatttcatg agaagatgcc gatttggttc ctgtgggtcc tcagcactat tcagtacagt
     3301 gcttgatgca cagcaggcac tcagaaaata ctggaggaaa taaaacacca aagatatttg
     3361 tctctagagg ctcagctgac aaaa
//
