LOCUS       NM_002555               1543 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens solute carrier family 22 member 18 (SLC22A18),
            transcript variant 1, mRNA.
ACCESSION   NM_002555
VERSION     NM_002555.6
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 1543)
  AUTHORS   Song,H.S., Ha,S.Y., Kim,J.Y., Kim,M. and Choi,J.H.
  TITLE     The effect of genetic variants of SLC22A18 on proliferation,
            migration, and invasion of colon cancer cells
  JOURNAL   Sci Rep 14 (1), 3925 (2024)
   PUBMED   38366023
  REMARK    GeneRIF: The effect of genetic variants of SLC22A18 on
            proliferation, migration, and invasion of colon cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1543)
  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   3  (bases 1 to 1543)
  AUTHORS   Ito,S., Honda,G., Fujino,Y., Ogata,S., Hirayama-Kurogi,M. and
            Ohtsuki,S.
  TITLE     Knockdown of Orphan Transporter SLC22A18 Impairs Lipid Metabolism
            and Increases Invasiveness of HepG2 Cells
  JOURNAL   Pharm Res 36 (3), 39 (2019)
   PUBMED   30635741
  REMARK    GeneRIF: suppression of SLC22A18 decreased the supply of
            intracellular free fatty acids from triglyceride-rich lipid
            droplets by impairing the lysosomal/autophagy degradation pathway
            and reduced the invasive activity of HepG2 cells by decreasing
            IGFBP-1 expression
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1543)
  AUTHORS   Ali,A.M., Bajaj,V., Gopinath,K.S. and Kumar,A.
  TITLE     Characterization of the human SLC22A18 gene promoter and its
            regulation by the transcription factor Sp1
  JOURNAL   Gene 429 (1-2), 37-43 (2009)
   PUBMED   18996451
  REMARK    GeneRIF: Mutational analysis of the two Sp1 sites suggested their
            requirement for the promoter activityof SLC22A18.
            GeneRIF: recent demonstration that the promoter of this gene is
            positively regulated by Sp1
REFERENCE   5  (bases 1 to 1543)
  AUTHORS   Onyango,P., Miller,W., Lehoczky,J., Leung,C.T., Birren,B.,
            Wheelan,S., Dewar,K. and Feinberg,A.P.
  TITLE     Sequence and comparative analysis of the mouse 1-megabase region
            orthologous to the human 11p15 imprinted domain
  JOURNAL   Genome Res 10 (11), 1697-1710 (2000)
   PUBMED   11076855
  REMARK    Erratum:[Genome Res 2001 Feb;11(2):308]
REFERENCE   6  (bases 1 to 1543)
  AUTHORS   Lee,M.P., Reeves,C., Schmitt,A., Su,K., Connors,T.D., Hu,R.J.,
            Brandenburg,S., Lee,M.J., Miller,G. and Feinberg,A.P.
  TITLE     Somatic mutation of TSSC5, a novel imprinted gene from human
            chromosome 11p15.5
  JOURNAL   Cancer Res 58 (18), 4155-4159 (1998)
   PUBMED   9751628
  REMARK    GeneRIF: SLC22A18 gene is imprinted, with preferential expression
            from the maternal allele.
REFERENCE   7  (bases 1 to 1543)
  AUTHORS   Morisaki,H., Hatada,I., Morisaki,T. and Mukai,T.
  TITLE     A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in
            mice
  JOURNAL   DNA Res 5 (4), 235-240 (1998)
   PUBMED   9802569
REFERENCE   8  (bases 1 to 1543)
  AUTHORS   Cooper,P.R., Smilinich,N.J., Day,C.D., Nowak,N.J., Reid,L.H.,
            Pearsall,R.S., Reece,M., Prawitt,D., Landers,J., Housman,D.E.,
            Winterpacht,A., Zabel,B.U., Pelletier,J., Weissman,B.E., Shows,T.B.
            and Higgins,M.J.
  TITLE     Divergently transcribed overlapping genes expressed in liver and
            kidney and located in the 11p15.5 imprinted domain
  JOURNAL   Genomics 49 (1), 38-51 (1998)
   PUBMED   9570947
REFERENCE   9  (bases 1 to 1543)
  AUTHORS   Dao,D., Frank,D., Qian,N., O'Keefe,D., Vosatka,R.J., Walsh,C.P. and
            Tycko,B.
  TITLE     IMPT1, an imprinted gene similar to polyspecific transporter and
            multi-drug resistance genes
  JOURNAL   Hum Mol Genet 7 (4), 597-608 (1998)
   PUBMED   9499412
REFERENCE   10 (bases 1 to 1543)
  AUTHORS   Schwienbacher,C., Sabbioni,S., Campi,M., Veronese,A., Bernardi,G.,
            Menegatti,A., Hatada,I., Mukai,T., Ohashi,H., Barbanti-Brodano,G.,
            Croce,C.M. and Negrini,M.
  TITLE     Transcriptional map of 170-kb region at chromosome 11p15.5:
            identification and mutational analysis of the BWR1A gene reveals
            the presence of mutations in tumor samples
  JOURNAL   Proc Natl Acad Sci U S A 95 (7), 3873-3878 (1998)
   PUBMED   9520460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013791.9, DA582280.1,
            AF059663.1 and AW452749.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_002555.5.
            
            Summary: This gene is one of several tumor-suppressing
            subtransferable fragments located in the imprinted gene domain of
            11p15.5, an important tumor-suppressor gene region. Alterations in
            this region have been associated with the Beckwith-Wiedemann
            syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma,
            and lung, ovarian, and breast cancer. This gene is imprinted, with
            preferential expression from the maternal allele. Mutations in this
            gene have been found in Wilms' tumor and lung cancer. This protein
            may act as a transporter of organic cations, and have a role in the
            transport of chloroquine and quinidine-related compounds in kidney.
            Several alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Oct
            2015].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 3. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 1 and 2
            both encode the same isoform (b).
            
            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 :: SRR7346977.644378.1,
                                           DRR138522.1072196.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 9751628
            MANE Ensembl match     :: ENST00000649076.2/ ENSP00000497561.1
            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
            1-4                 AC013791.9         40102-40105         c
            5-234               DA582280.1         90-319
            235-452             AF059663.1         210-427
            453-453             AC013791.9         34061-34061         c
            454-1538            AF059663.1         429-1513
            1539-1543           AW452749.1         17-21               c
FEATURES             Location/Qualifiers
     source          1..1543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1543
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /note="solute carrier family 22 member 18"
                     /db_xref="GeneID:5002"
                     /db_xref="HGNC:HGNC:10964"
                     /db_xref="MIM:602631"
     exon            1..87
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            88..363
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            364..461
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            462..622
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            623..755
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            756..874
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            875..982
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1083
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1185
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1306
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1543
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1518..1523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /note="hexamer: AATAAA"
     polyA_site      1543
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /note="major polyA site"
ORIGIN      
        1 gctcatcccg gaaggaccgg tgtctaggtc accctggagc gctcacccca ccggcacccg
       61 tgcccaagcc cgcccctgca aaggcaggca aggccaggcg ggtgctgcct gggacccagt
      121 gactcagcac ccctgcccgg atcaactgga cttttgcccc ctgctccgcc agcctcctgc
      181 ttggatctct cctgggtctc cctgctgcgc ctgtccagga tgcagggagc tcgggctccc
      241 agggaccagg gccggtcccc cggcaggatg agcgctctag gccggtcctc ggtcatcttg
      301 cttacctacg tgctggccgc cacagaactt acctgcctct tcatgcagtt ctccatcgtg
      361 ccatacctgt ctcggaaact gggcctggat tccattgcct tcggctacct gcaaaccacc
      421 ttcggggtgc tgcagctgct gggcgggccg gtatttggca ggttcgcaga ccagcgcggg
      481 gcgcgggcgg cgctcacgct ctccttcctg gctgccttgg cgctctacct gctcctggcg
      541 gccgcctcca gcccggccct gcccggggtc tacctgctct tcgcctcgcg cctgcccgga
      601 gcgctcatgc acacgctgcc agccgcccag atggtcatca cggacctgtc ggcacccgag
      661 gagcggcccg cggccctggg ccggctgggc ctctgcttcg gcgtcggagt catcctcggc
      721 tccctgctgg gcgggaccct ggtctccgcg tacgggattc agtgcccggc catcctggct
      781 gccctggcca ccctcctggg agctgtcctc agcttcacct gcatccccgc cagcaccaaa
      841 ggggccaaaa ctgacgccca ggctccactg ccaggcggcc cccgggccag tgtgttcgac
      901 ctgaaggcca tcgcctccct gctgcggctg ccagacgtcc cgaggatctt cctggtgaag
      961 gtggcctcca actgccccac agggctcttc atggtcatgt tctccatcat ctccatggac
     1021 ttcttccagc tggaggccgc ccaagctggc tacctcatgt ccttcttcgg gctcctccag
     1081 atggtgaccc agggcctggt catcgggcag ctgagcagcc acttctcgga ggaggtgctg
     1141 ctccgggcca gcgtgctggt cttcatcgtg gtgggcctgg ccatggcctg gatgtccagc
     1201 gtcttccact tctgcctcct ggtgcccggc ctggtgttca gcctctgcac cctcaacgtg
     1261 gtcaccgaca gcatgctgat caaggctgtc tccacctcgg acacagggac catgctgggc
     1321 ctctgcgcct ctgtacaacc actgctccga actctgggac ccacggtcgg cggcctcctg
     1381 taccgcagct ttggcgtccc cgtcttcggc cacgtgcagg ttgctatcaa tacccttgtc
     1441 ctcctggtcc tctggaggaa acctatgccc cagaggaagg acaaagtccg gtgaccgctg
     1501 cccagacaca gactggcaat aaactcctac taaatccctc cga
//
