LOCUS       NM_001080397            2496 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens solute carrier family 45 member 1 (SLC45A1),
            transcript variant 2, mRNA.
ACCESSION   NM_001080397 XM_001129279 XM_005263467
VERSION     NM_001080397.3
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 2496)
  AUTHORS   Srour,M., Shimokawa,N., Hamdan,F.F., Nassif,C., Poulin,C., Al
            Gazali,L., Rosenfeld,J.A., Koibuchi,N., Rouleau,G.A., Al Shamsi,A.
            and Michaud,J.L.
  TITLE     Dysfunction of the Cerebral Glucose Transporter SLC45A1 in
            Individuals with Intellectual Disability and Epilepsy
  JOURNAL   Am J Hum Genet 100 (5), 824-830 (2017)
   PUBMED   28434495
  REMARK    GeneRIF: Our data strongly suggest that recessive mutations in
            SLC45A1 cause intellectual disability and epilepsy. SLC45A1 thus
            represents the second cerebral glucose transporter, in addition to
            GLUT1, to be involved in neurodevelopmental disability.
REFERENCE   2  (bases 1 to 2496)
  AUTHORS   Guan,W., Steffen,B.T., Lemaitre,R.N., Wu,J.H.Y., Tanaka,T.,
            Manichaikul,A., Foy,M., Rich,S.S., Wang,L., Nettleton,J.A.,
            Tang,W., Gu,X., Bandinelli,S., King,I.B., McKnight,B., Psaty,B.M.,
            Siscovick,D., Djousse,L., Chen,Y.I., Ferrucci,L., Fornage,M.,
            Mozafarrian,D., Tsai,M.Y. and Steffen,L.M.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   3  (bases 1 to 2496)
  CONSRTM   Cross-Disorder Group of the Psychiatric Genomics Consortium
  TITLE     Identification of risk loci with shared effects on five major
            psychiatric disorders: a genome-wide analysis
  JOURNAL   Lancet 381 (9875), 1371-1379 (2013)
   PUBMED   23453885
  REMARK    Erratum:[Lancet. 2013 Apr 20;381(9875):1360]
REFERENCE   4  (bases 1 to 2496)
  AUTHORS   Song,C., Chen,G.K., Millikan,R.C., Ambrosone,C.B., John,E.M.,
            Bernstein,L., Zheng,W., Hu,J.J., Ziegler,R.G., Nyante,S.,
            Bandera,E.V., Ingles,S.A., Press,M.F., Deming,S.L.,
            Rodriguez-Gil,J.L., Chanock,S.J., Wan,P., Sheng,X., Pooler,L.C.,
            Van Den Berg,D.J., Le Marchand,L., Kolonel,L.N., Henderson,B.E.,
            Haiman,C.A. and Stram,D.O.
  TITLE     A genome-wide scan for breast cancer risk haplotypes among African
            American women
  JOURNAL   PLoS One 8 (2), e57298 (2013)
   PUBMED   23468962
REFERENCE   5  (bases 1 to 2496)
  AUTHORS   Choy,K.W., Wang,C.C., Ogura,A., Lau,T.K., Rogers,M.S., Ikeo,K.,
            Gojobori,T., Lam,D.S. and Pang,C.P.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   6  (bases 1 to 2496)
  AUTHORS   Amler,L.C., Bauer,A., Corvi,R., Dihlmann,S., Praml,C.,
            Cavenee,W.K., Schwab,M. and Hampton,G.M.
  TITLE     Identification and characterization of novel genes located at the
            t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma
            cell line NGP
  JOURNAL   Genomics 64 (2), 195-202 (2000)
   PUBMED   10729226
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY013542.1, BU527858.1,
            AL356072.21, BY798065.2 and HY328991.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 19, 2019 this sequence version replaced NM_001080397.2.
            
            Summary: This gene was isolated initially from a region on
            chromosome 1p that is frequently deleted in human neuroblastoma,
            although no causal relationship has since been demonstrated. The
            encoded protein belongs to the glycoside-pentoside-hexuronide
            cation symporter transporter family and may play a role in glucose
            uptake. [provided by RefSeq, Mar 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2243324.1,
                                           SRR11853559.202.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000471889.7/ ENSP00000418096.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-446               HY013542.1         8-453
            447-520             HY013542.1         455-528
            521-940             BU527858.1         312-731
            941-1531            AL356072.21        46173-46763
            1532-2114           BY798065.2         1-583               c
            2115-2439           HY328991.1         82-406              c
            2440-2496           AL356072.21        59945-60001
FEATURES             Location/Qualifiers
     source          1..2496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     gene            1..2496
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /note="solute carrier family 45 member 1"
                     /db_xref="GeneID:50651"
                     /db_xref="HGNC:HGNC:17939"
                     /db_xref="MIM:605763"
     exon            1..73
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            74..494
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..2344
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     proton-associated sugar transporter A; deleted in
                     neuroblastoma 5 protein; H+/sugar symporter"
                     /codon_start=1
                     /product="proton-associated sugar transporter A isoform 2"
                     /protein_id="NP_001073866.3"
                     /db_xref="CCDS:CCDS30577.3"
                     /db_xref="GeneID:50651"
                     /db_xref="HGNC:HGNC:17939"
                     /db_xref="MIM:605763"
                     /translation="MIPAASSTPPGDALFPSVAPQDFWRSQVTGYSGSVTRHLSHRAN
                     NFKRHPKRRKCIRPSPPPPPNTPCPLELVDFGDLHPQRSFRELLFNGCILFGIEFSYA
                     METAYVTPVLLQMGLPDQLYSLVWFISPILGFLLQPLLGAWSDRCTSRFGRRRPFILV
                     LAIGALLGLSLLLNGRDIGIALADVTGNHKWGLLLTVCGVVLMDFSADSADNPSHAYM
                     MDVCSPADQDRGLNIHALLAGLGGGFGYVVGGIHWDKTGFGRALGGQLRVIYLFTAVT
                     LSVTTVLTLVSIPERPLRPPSEKRAAMKSPSLPLPPSPPVLPEEGPGDSLPSHTATNF
                     SSPISPPSPLTPKYGSFISRDSSLTGISEFASSFGTANIDSVLIDCFTGGHDSYLAIP
                     GSVPRPPISVSFPRAPDGFYRQDRGLLEGREGALTSGCDGDILRVGSLDTSKPRSSGI
                     LKRPQTLAIPDAAGGGGPETSRRRNVTFSQQVANILLNGVKYESELTGSSERAEQPLS
                     VGRLCSTICNMPKALRTLCVNHFLGWLSFEGMLLFYTDFMGEVVFQGDPKAPHTSEAY
                     QKYNSGVTMGCWGMCIYAFSAAFYSAILEKLEEFLSVRTLYFIAYLAFGLGTGLATLS
                     RNLYVVLSLCITYGILFSTLCTLPYSLLCDYYQSKKFAGSSADGTRRGMGVDISLLSC
                     QYFLAQILVSLVLGPLTSAVGSANGVMYFSSLVSFLGCLYSSLFVIYEIPPSDAADEE
                     HRPLLLNV"
     exon            495..587
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            588..812
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            813..1540
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1694
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1871
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..2077
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     exon            2078..2496
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2475..2480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /note="hexamer: AATAAA"
     polyA_site      2496
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /note="major polyA site"
ORIGIN      
        1 gcagcagccg ggaccgcggc cgggcaggca gcagcccagc ggggacaggg atgcctgccg
       61 tctccaccca cagggacgcc caccagccct ccccacgatg atccccgcag ccagcagcac
      121 cccgccggga gatgccctct tccccagcgt ggccccacag gacttctgga ggtcccaggt
      181 cacgggctac tcggggtccg tgacacgaca cctcagtcac cgggccaaca acttcaaacg
      241 acaccccaag aggaggaagt gcattcgtcc ctccccaccc ccgcccccca acaccccgtg
      301 cccgcttgag ctggtggact tcggggacct gcacccccag aggtccttcc gggagctgct
      361 tttcaacggc tgcattctct ttggcatcga gttcagctac gccatggaga cggcgtacgt
      421 gaccccggtg ctcctgcaga tgggcctgcc cgaccagctc tacagcctgg tgtggttcat
      481 cagccccatc ctcggattcc tactgcagcc tctgttgggt gcttggagtg accggtgtac
      541 ctcaaggttt ggaaggagac gccctttcat tcttgtcctg gctatagggg cactgctggg
      601 cctctcgctc ttgctgaatg gccgggacat tggcatcgcc ctggctgacg tgaccgggaa
      661 ccacaagtgg ggcctgctgc tgaccgtgtg cggtgtggtg ctgatggact ttagcgccga
      721 ctcggcggac aaccccagcc acgcctacat gatggacgtg tgcagccccg cagaccagga
      781 ccgaggcctg aacatccacg ccctcctggc aggtctcgga ggaggctttg gatacgtggt
      841 cggcggaatc cactgggata aaacgggctt cgggagggcc ctggggggac agctccgagt
      901 catttacctc ttcactgcgg tcaccctgag cgtcaccacc gtcctgaccc tggtcagcat
      961 ccctgagagg ccgctgcggc cgccgagtga gaagcgggca gccatgaaga gccccagcct
     1021 cccgctgccc ccgtccccac ccgtcctgcc agaggaaggc cctggcgaca gcctcccgtc
     1081 gcacacggcc accaacttct ccagccccat ctcgccgccc agccccctca cgcccaagta
     1141 cggcagcttc atcagcaggg acagctccct gacgggcatc agcgagttcg cctcatcctt
     1201 tggcacggcc aacatagaca gcgtcctcat tgactgcttc acgggcggcc acgacagcta
     1261 cctggccatc cctggcagcg tccccaggcc gcccatcagc gtcagcttcc cccgggcccc
     1321 cgacggcttc taccgccagg accgtggact tctggagggc agagagggtg ccctgacctc
     1381 cggctgtgac ggggacattc tgagggtggg ctccttggac acctctaagc cgaggtcatc
     1441 agggattctg aagagacctc agaccttggc catcccggac gcagccggag gagggggtcc
     1501 cgaaaccagc aggagaagga atgtgacctt cagtcagcag gtggccaata tcctgctcaa
     1561 cggcgtgaag tatgagagcg agctgacggg ctccagcgag cgcgcggagc agcctctgtc
     1621 cgtggggcgc ctctgctcca ccatctgcaa catgcccaag gcgctacgca ccctctgcgt
     1681 caaccacttc ctggggtggc tctcattcga ggggatgttg ctcttctaca cagacttcat
     1741 gggcgaggtg gtgtttcagg gggaccccaa ggccccgcac acatcagagg cgtatcagaa
     1801 gtacaacagc ggcgtgacca tgggctgctg gggcatgtgt atctacgcct tcagtgctgc
     1861 cttctactca gctatcctgg agaagctgga ggagttcctc agcgtccgca ccctctactt
     1921 catcgcctat ctcgccttcg gcctggggac cgggcttgcc accctctcca ggaacctcta
     1981 cgtggtcctg tcgctctgca taacctacgg gattttattt tccaccctgt gcaccttgcc
     2041 ttactcgctg ctctgcgatt actatcagag taagaagttt gcagggtcca gtgcggacgg
     2101 cacccggcgg ggcatgggcg tggacatctc tctgctgagc tgccagtact tcctggctca
     2161 gattctggtc tccctggtcc tggggcccct gacctcggcc gtgggcagtg ccaacggggt
     2221 gatgtacttc tccagcctcg tgtccttcct gggctgcctg tactcctccc tgtttgtcat
     2281 ttatgaaatt cctcccagcg acgctgcaga cgaggagcac cggcccctcc tgctgaacgt
     2341 ctgacatcgc ggagcctcga ctccggacac gcgcctgcac ctgggggtct ggagcaggcc
     2401 gaccagtgag gaccaaaggg ccttgttgga cagggggact ggctgcctac tggaatgtaa
     2461 atatgtgata aaataataaa tgacagcggc aaagcc
//
