LOCUS       NM_182632               2095 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 6 member 18 (SLC6A18), mRNA.
ACCESSION   NM_182632
VERSION     NM_182632.3
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 2095)
  AUTHORS   Fairweather,S.J., Broer,A., Subramanian,N., Tumer,E., Cheng,Q.,
            Schmoll,D., O'Mara,M.L. and Broer,S.
  TITLE     Molecular basis for the interaction of the mammalian amino acid
            transporters B0AT1 and B0AT3 with their ancillary protein
            collectrin
  JOURNAL   J Biol Chem 290 (40), 24308-24325 (2015)
   PUBMED   26240152
REFERENCE   2  (bases 1 to 2095)
  AUTHORS   Wolpin,B.M., Rizzato,C., Kraft,P., Kooperberg,C., Petersen,G.M.,
            Wang,Z., Arslan,A.A., Beane-Freeman,L., Bracci,P.M., Buring,J.,
            Canzian,F., Duell,E.J., Gallinger,S., Giles,G.G., Goodman,G.E.,
            Goodman,P.J., Jacobs,E.J., Kamineni,A., Klein,A.P., Kolonel,L.N.,
            Kulke,M.H., Li,D., Malats,N., Olson,S.H., Risch,H.A., Sesso,H.D.,
            Visvanathan,K., White,E., Zheng,W., Abnet,C.C., Albanes,D.,
            Andreotti,G., Austin,M.A., Barfield,R., Basso,D., Berndt,S.I.,
            Boutron-Ruault,M.C., Brotzman,M., Buchler,M.W.,
            Bueno-de-Mesquita,H.B., Bugert,P., Burdette,L., Campa,D.,
            Caporaso,N.E., Capurso,G., Chung,C., Cotterchio,M., Costello,E.,
            Elena,J., Funel,N., Gaziano,J.M., Giese,N.A., Giovannucci,E.L.,
            Goggins,M., Gorman,M.J., Gross,M., Haiman,C.A., Hassan,M.,
            Helzlsouer,K.J., Henderson,B.E., Holly,E.A., Hu,N., Hunter,D.J.,
            Innocenti,F., Jenab,M., Kaaks,R., Key,T.J., Khaw,K.T., Klein,E.A.,
            Kogevinas,M., Krogh,V., Kupcinskas,J., Kurtz,R.C., LaCroix,A.,
            Landi,M.T., Landi,S., Le Marchand,L., Mambrini,A., Mannisto,S.,
            Milne,R.L., Nakamura,Y., Oberg,A.L., Owzar,K., Patel,A.V.,
            Peeters,P.H., Peters,U., Pezzilli,R., Piepoli,A., Porta,M.,
            Real,F.X., Riboli,E., Rothman,N., Scarpa,A., Shu,X.O.,
            Silverman,D.T., Soucek,P., Sund,M., Talar-Wojnarowska,R.,
            Taylor,P.R., Theodoropoulos,G.E., Thornquist,M., Tjonneland,A.,
            Tobias,G.S., Trichopoulos,D., Vodicka,P., Wactawski-Wende,J.,
            Wentzensen,N., Wu,C., Yu,H., Yu,K., Zeleniuch-Jacquotte,A.,
            Hoover,R., Hartge,P., Fuchs,C., Chanock,S.J.,
            Stolzenberg-Solomon,R.S. and Amundadottir,L.T.
  TITLE     Genome-wide association study identifies multiple susceptibility
            loci for pancreatic cancer
  JOURNAL   Nat Genet 46 (9), 994-1000 (2014)
   PUBMED   25086665
REFERENCE   3  (bases 1 to 2095)
  AUTHORS   Friedman,E., Moran,D.S., Ben-Avraham,D., Yanovich,R. and Atzmon,G.
  TITLE     Novel candidate genes putatively involved in stress fracture
            predisposition detected by whole-exome sequencing
  JOURNAL   Genet Res (Camb) 96, e004 (2014)
   PUBMED   25023003
  REMARK    GeneRIF: Mutations in SLC6A18 gene is associated with stress
            fracture.
REFERENCE   4  (bases 1 to 2095)
  AUTHORS   Matsumoto,K., Shimodaira,M., Nakagawa,T., Nakayama,T., Nakazato,T.,
            Izumi,Y., Soma,M., Matsumoto,K., Sato,N. and Aoi,N.
  TITLE     Association study: SLC6A18 gene and myocardial infarction
  JOURNAL   Clin Biochem 44 (10-11), 789-794 (2011)
   PUBMED   21420947
  REMARK    GeneRIF: These results suggest that SLC6A18 or neighboring genes
            are associated with increased susceptibility to myocardial
            infarction.
REFERENCE   5  (bases 1 to 2095)
  AUTHORS   Guey,L.T., Garcia-Closas,M., Murta-Nascimento,C., Lloreta,J.,
            Palencia,L., Kogevinas,M., Rothman,N., Vellalta,G., Calle,M.L.,
            Marenne,G., Tardon,A., Carrato,A., Garcia-Closas,R., Serra,C.,
            Silverman,D.T., Chanock,S., Real,F.X. and Malats,N.
  CONSRTM   EPICURO/Spanish Bladder Cancer Study investigators
  TITLE     Genetic susceptibility to distinct bladder cancer subphenotypes
  JOURNAL   Eur Urol 57 (2), 283-292 (2010)
   PUBMED   19692168
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2095)
  AUTHORS   Broer,S.
  TITLE     Amino acid transport across mammalian intestinal and renal
            epithelia
  JOURNAL   Physiol Rev 88 (1), 249-286 (2008)
   PUBMED   18195088
  REMARK    Review article
REFERENCE   7  (bases 1 to 2095)
  AUTHORS   Eslami,B., Kinboshi,M., Inoue,S., Harada,K., Inoue,K. and
            Koizumi,A.
  TITLE     A nonsense polymorphism (Y319X) of the solute carrier family 6
            member 18 (SLC6A18) gene is not associated with hypertension and
            blood pressure in Japanese
  JOURNAL   Tohoku J Exp Med 208 (1), 25-31 (2006)
   PUBMED   16340170
  REMARK    GeneRIF: Observational study of genotype prevalence and
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2095)
  AUTHORS   Hoglund,P.J., Adzic,D., Scicluna,S.J., Lindblom,J. and
            Fredriksson,R.
  TITLE     The repertoire of solute carriers of family 6: identification of
            new human and rodent genes
  JOURNAL   Biochem Biophys Res Commun 336 (1), 175-189 (2005)
   PUBMED   16125675
REFERENCE   9  (bases 1 to 2095)
  AUTHORS   Kleta,R., Romeo,E., Ristic,Z., Ohura,T., Stuart,C.,
            Arcos-Burgos,M., Dave,M.H., Wagner,C.A., Camargo,S.R., Inoue,S.,
            Matsuura,N., Helip-Wooley,A., Bockenhauer,D., Warth,R.,
            Bernardini,I., Visser,G., Eggermann,T., Lee,P., Chairoungdua,A.,
            Jutabha,P., Babu,E., Nilwarangkoon,S., Anzai,N., Kanai,Y.,
            Verrey,F., Gahl,W.A. and Koizumi,A.
  TITLE     Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
  JOURNAL   Nat Genet 36 (9), 999-1002 (2004)
   PUBMED   15286787
REFERENCE   10 (bases 1 to 2095)
  AUTHORS   Leem,S.H., Londono-Vallejo,J.A., Kim,J.H., Bui,H., Tubacher,E.,
            Solomon,G., Park,J.E., Horikawa,I., Kouprina,N., Barrett,J.C. and
            Larionov,V.
  TITLE     The human telomerase gene: complete genomic sequence and analysis
            of tandem repeat polymorphisms in intronic regions
  JOURNAL   Oncogene 21 (5), 769-777 (2002)
   PUBMED   11850805
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK055798.1 and BC056757.1.
            
            On Nov 23, 2018 this sequence version replaced NM_182632.2.
            
            Summary: The SLC6 family of proteins, which includes SLC6A18, act
            as specific transporters for neurotransmitters, amino acids, and
            osmolytes like betaine, taurine, and creatine. SLC6 proteins are
            sodium cotransporters that derive the energy for solute transport
            from the electrochemical gradient for sodium ions (Hoglund et al.,
            2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010].
            
            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 :: BC056757.1, AK055798.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324642.4/ ENSP00000323549.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-191               AK055798.1         27-217
            192-2095            BC056757.1         176-2079
FEATURES             Location/Qualifiers
     source          1..2095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..2095
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /note="solute carrier family 6 member 18"
                     /db_xref="GeneID:348932"
                     /db_xref="HGNC:HGNC:26441"
                     /db_xref="MIM:610300"
     exon            1..257
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1984
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /note="solute carrier family 6 (neurotransmitter
                     transporter), member 18; sodium-dependent neutral amino
                     acid transporter B(0)AT3; sodium channel-like protein;
                     system B(0) neutral amino acid transporter AT3; sodium-
                     and chloride-dependent transporter XTRP2; solute carrier
                     family 6 (neutral amino acid transporter), member 18"
                     /codon_start=1
                     /product="inactive sodium-dependent neutral amino acid
                     transporter B(0)AT3"
                     /protein_id="NP_872438.2"
                     /db_xref="CCDS:CCDS3860.1"
                     /db_xref="GeneID:348932"
                     /db_xref="HGNC:HGNC:26441"
                     /db_xref="MIM:610300"
                     /translation="MAHAPEPDPAACDLGDERPKWDNKAQYLLSCTGFAVGLGNIWRF
                     PYLCQTYGGGAFLIPYVIALVFEGIPIFHVELAIGQRLRKGSVGVWTAISPYLSGVGL
                     GCVTLSFLISLYYNTIVAWVLWYLLNSFQHPLPWSSCPPDLNRTGFVEECQGSSAVSY
                     FWYRQTLNITADINDSGSIQWWLLICLAASWAVVYMCVIRGIETTGKVIYFTALFPYL
                     VLTIFLIRGLTLPGATKGLIYLFTPNMHILQNPRVWLDAATQIFFSLSLAFGGHIAFA
                     SYNSPRNDCQKDAVVIALVNRMTSLYASIAVFSVLGFKATNDYEHCLDRNILSLINDF
                     DFPEQSISRDDYPAVLMHLNATWPKRVAQLPLKACLLEDFLDKSASGPGLAFVVFTET
                     DLHMPGAPVWAMLFFGMLFTLGLSTMFGTVEAVITPLLDVGVLPRWVPKEALTGLVCL
                     VCFLSATCFTLQSGNYWLEIFDNFAASPNLLMLAFLEVVGVVYVYGMKRFCDDIAWMT
                     GRRPSPYWRLTWRVVSPLLLTIFVAYIILLFWKPLRYKAWNPKYELFPSRQEKLYPGW
                     ARAACVLLSLLPVLWVPVAALAQLLTRRRRTWRDRDARPDTDMRPDTDTRPDTDMRPD
                     TDMR"
     exon            258..398
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            399..536
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            537..718
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            719..829
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            830..942
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1071
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1228
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1433
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1593
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1753
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     exon            1754..2095
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /note="hexamer: AATACA"
     polyA_site      2095
                     /gene="SLC6A18"
                     /gene_synonym="Xtrp2"
                     /note="major polyA site"
ORIGIN      
        1 ggtttccaaa cgtcggcaga ggctggagac ggctctctag tgctgggtgt ggagtgaggc
       61 accacccttg ccctgaagcc tggggcactc agtcaccatg gctcatgccc cagaaccgga
      121 cccggccgcc tgcgacctcg gggatgagag gcccaagtgg gacaacaagg cccagtacct
      181 cctgagctgc actgggtttg ccgtgggact ggggaacatt tggcggttcc catacctgtg
      241 ccagacctat ggaggagggg ccttcctcat cccctacgtc atcgcgctgg tcttcgaggg
      301 gatccccatt ttccacgtcg agctcgccat cggccagcgg ctgcggaagg gcagcgtcgg
      361 cgtgtggacg gccatctccc cgtacctcag tggagtaggg ctgggctgtg tcacgctgtc
      421 cttcctgatc agcctgtact acaacaccat cgtggcgtgg gtgctgtggt acctcctcaa
      481 ctccttccag cacccgctgc cctggagctc ctgcccaccg gacctcaaca gaacagggtt
      541 tgtggaggag tgccagggca gcagcgccgt gagctacttc tggtaccggc agacactgaa
      601 catcacagcc gacatcaatg acagtggctc catccagtgg tggctgctca tctgcttggc
      661 agcctcctgg gcagtcgtgt acatgtgtgt catcaggggc attgagacta cagggaaggt
      721 gatttacttc acagctttgt tcccttacct ggtcctgacc atctttctca tcagagggct
      781 gaccctgcca ggggcaacaa aaggactcat ctacttgttc actcccaaca tgcacattct
      841 ccagaacccc cgggtgtggc tggacgcagc cacccagata ttcttctctc tgtccctggc
      901 cttcggagga cacatcgctt ttgcaagtta caactcgccc aggaatgact gccagaagga
      961 tgcggtggtc atcgccctgg tcaacaggat gacctccctg tacgcgtcca tcgctgtctt
     1021 ctctgtcctg gggttcaaag caactaatga ctacgagcac tgcctggaca gaaacatcct
     1081 cagcctcatc aacgactttg acttcccaga gcagagcatc tccagggacg actacccagc
     1141 cgtcctcatg cacctgaacg ccacctggcc caagagggtg gcccagctcc ccctgaaggc
     1201 ctgcctcctg gaagactttc tggataagag tgcctcgggc ccgggcctgg ccttcgtcgt
     1261 cttcacggag accgacctcc acatgccggg ggctcctgtg tgggccatgc tcttcttcgg
     1321 gatgctgttc accttggggc tatcgaccat gttcgggacc gtggaggcgg tcatcacacc
     1381 cctgctggac gtgggggtcc tgcctagatg ggtccccaag gaggccctga ctgggctggt
     1441 ctgcctggtc tgcttcctct ccgccacctg cttcacgctg cagtctggga actactggct
     1501 ggagattttc gacaattttg ccgcttcccc gaacctgctc atgttggcct ttctcgaggt
     1561 tgtgggtgtc gtttatgttt atggaatgaa acggttctgc gatgacattg cgtggatgac
     1621 cgggaggcgg cccagcccct actggcggct gacctggagg gtggtcagtc ccctgctgct
     1681 gaccatcttt gtggcttaca tcatcctcct gttctggaag ccactgagat acaaggcctg
     1741 gaaccccaaa tacgagctgt tcccctcgcg tcaggagaag ctctacccgg gctgggcgcg
     1801 cgccgcctgt gtgctgctgt ccttgctgcc cgtgctgtgg gtcccggtgg ccgcgcttgc
     1861 tcagctgctc acccggcgga ggcggacgtg gagggacagg gacgcgcgcc cagacacgga
     1921 catgcgcccg gacacggaca cgcgcccaga cacggacatg cgcccggaca cggacatgcg
     1981 ctgaagccgg ccggagcggg gcctgcatgg gcgggtctgt gggggggctt ggcctgatgg
     2041 tgggcggggc cccgcccaca gggccgaccc caatacacca gcgactcaac cttga
//
