LOCUS       NM_014270               1766 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 7 member 9 (SLC7A9), transcript
            variant 1, mRNA.
ACCESSION   NM_014270
VERSION     NM_014270.5
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 1766)
  AUTHORS   Wu,C.W., Badreddine,J., Chang,J., Huang,Y.M., Kim,F.J., Wild,T.,
            Tsai,A.C., Meeks,N., Donalisio Da Silva,R., Molina,W.R. and
            Schumacher,F.R.
  TITLE     Population genetics analysis of SLC3A1 and SLC7A9 revealed the
            etiology of cystine stone may be more than what our current genetic
            knowledge can explain
  JOURNAL   Urolithiasis 51 (1), 101 (2023)
   PUBMED   37561200
  REMARK    GeneRIF: Population genetics analysis of SLC3A1 and SLC7A9 revealed
            the etiology of cystine stone may be more than what our current
            genetic knowledge can explain.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1766)
  AUTHORS   Lee,B., Lee,S.Y., Han,D.H. and Park,H.D.
  TITLE     Interpretation of SLC3A1 and SLC7A9 variants in cystinuria
            patients: The significance of the PM3 criterion and protein
            stability
  JOURNAL   Urolithiasis 51 (1), 94 (2023)
   PUBMED   37439839
  REMARK    GeneRIF: Interpretation of SLC3A1 and SLC7A9 variants in cystinuria
            patients: The significance of the PM3 criterion and protein
            stability.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1766)
  AUTHORS   Baba,H., Kanda,M., Sawaki,K., Nakamura,S., Ueda,S., Shimizu,D.,
            Koike,M., Kodera,Y. and Fujii,T.
  TITLE     SLC7A9 as a Potential Biomarker for Lymph Node Metastasis of
            Esophageal Squamous Cell Carcinoma
  JOURNAL   Ann Surg Oncol 29 (4), 2699-2709 (2022)
   PUBMED   34773193
  REMARK    GeneRIF: SLC7A9 as a Potential Biomarker for Lymph Node Metastasis
            of Esophageal Squamous Cell Carcinoma.
REFERENCE   4  (bases 1 to 1766)
  AUTHORS   Tkaczyk,M., Gadomska-Prokop,K., Zaluska-Lesniewska,I., Musial,K.,
            Zawadzki,J., Jobs,K., Porowski,T., Rogowska-Kalisz,A., Jander,A.,
            Kirolos,M., Halinski,A., Krzemien,A., Sobieszczanska-Drozdziel,A.,
            Zachwieja,K., Beck,B.B., Sikora,P. and Zaniew,M.
  TITLE     Clinical profile of a Polish cohort of children and young adults
            with cystinuria
  JOURNAL   Ren Fail 43 (1), 62-70 (2021)
   PUBMED   33349102
  REMARK    GeneRIF: Clinical profile of a Polish cohort of children and young
            adults with cystinuria.
REFERENCE   5  (bases 1 to 1766)
  AUTHORS   Wu,D., Grund,T.N., Welsch,S., Mills,D.J., Michel,M., Safarian,S.
            and Michel,H.
  TITLE     Structural basis for amino acid exchange by a human heteromeric
            amino acid transporter
  JOURNAL   Proc Natl Acad Sci U S A 117 (35), 21281-21287 (2020)
   PUBMED   32817565
  REMARK    GeneRIF: Structural basis for amino acid exchange by a human
            heteromeric amino acid transporter.
REFERENCE   6  (bases 1 to 1766)
  AUTHORS   Pfeiffer,R., Loffing,J., Rossier,G., Bauch,C., Meier,C.,
            Eggermann,T., Loffing-Cueni,D., Kuhn,L.C. and Verrey,F.
  TITLE     Luminal heterodimeric amino acid transporter defective in
            cystinuria
  JOURNAL   Mol Biol Cell 10 (12), 4135-4147 (1999)
   PUBMED   10588648
REFERENCE   7  (bases 1 to 1766)
  AUTHORS   Feliubadalo,L., Font,M., Purroy,J., Rousaud,F., Estivill,X.,
            Nunes,V., Golomb,E., Centola,M., Aksentijevich,I., Kreiss,Y.,
            Goldman,B., Pras,M., Kastner,D.L., Pras,E., Gasparini,P.,
            Bisceglia,L., Beccia,E., Gallucci,M., de Sanctis,L., Ponzone,A.,
            Rizzoni,G.F., Zelante,L., Bassi,M.T., George,A.L. Jr., Manzoni,M.,
            De Grandi,A., Riboni,M., Endsley,J.K., Ballabio,A., Borsani,G.,
            Reig,N., Fernandez,E., Estevez,R., Pineda,M., Torrents,D.,
            Camps,M., Lloberas,J., Zorzano,A. and Palacin,M.
  CONSRTM   International Cystinuria Consortium
  TITLE     Non-type I cystinuria caused by mutations in SLC7A9, encoding a
            subunit (bo,+AT) of rBAT
  JOURNAL   Nat Genet 23 (1), 52-57 (1999)
   PUBMED   10471498
REFERENCE   8  (bases 1 to 1766)
  AUTHORS   Wartenfeld,R., Golomb,E., Katz,G., Bale,S.J., Goldman,B., Pras,M.,
            Kastner,D.L. and Pras,E.
  TITLE     Molecular analysis of cystinuria in Libyan Jews: exclusion of the
            SLC3A1 gene and mapping of a new locus on 19q
  JOURNAL   Am J Hum Genet 60 (3), 617-624 (1997)
   PUBMED   9042922
REFERENCE   9  (bases 1 to 1766)
  AUTHORS   Bisceglia,L., Calonge,M.J., Totaro,A., Feliubadalo,L.,
            Melchionda,S., Garcia,J., Testar,X., Gallucci,M., Ponzone,A.,
            Zelante,L., Zorzano,A., Estivill,X., Gasparini,P., Nunes,V. and
            Palacin,M.
  TITLE     Localization, by linkage analysis, of the cystinuria type III gene
            to chromosome 19q13.1
  JOURNAL   Am J Hum Genet 60 (3), 611-616 (1997)
   PUBMED   9042921
REFERENCE   10 (bases 1 to 1766)
  AUTHORS   Chillaron,J., Estevez,R., Mora,C., Wagner,C.A., Suessbrich,H.,
            Lang,F., Gelpi,J.L., Testar,X., Busch,A.E., Zorzano,A. and
            Palacin,M.
  TITLE     Obligatory amino acid exchange via systems bo,+-like and y+L-like.
            A tertiary active transport mechanism for renal reabsorption of
            cystine and dibasic amino acids
  JOURNAL   J Biol Chem 271 (30), 17761-17770 (1996)
   PUBMED   8663357
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP276659.1, AK026446.1 and
            BC017962.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014270.4.
            
            Summary: This gene encodes a protein that belongs to a family of
            light subunits of amino acid transporters. This protein plays a
            role in the high-affinity and sodium-independent transport of
            cystine and neutral and dibasic amino acids, and appears to
            function in the reabsorption of cystine in the kidney tubule.
            Mutations in this gene cause non-type I cystinuria, a disease that
            leads to cystine stones in the urinary system due to impaired
            transport of cystine and dibasic amino acids. Alternate transcript
            variants, which encode the same protein, have been found for this
            gene. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, and 3 encode the same protein.
            
            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 :: AK026446.1, BC017962.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000023064.9/ ENSP00000023064.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BP276659.1         11-31
            22-637              AK026446.1         18-633
            638-1761            BC017962.1         637-1760
            1762-1766           AK026446.1         1754-1758
FEATURES             Location/Qualifiers
     source          1..1766
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..1766
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /note="solute carrier family 7 member 9"
                     /db_xref="GeneID:11136"
                     /db_xref="HGNC:HGNC:11067"
                     /db_xref="MIM:604144"
     exon            1..82
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            83..280
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     CDS             194..1657
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /note="solute carrier family 7 (cationic amino acid
                     transporter, y+ system), member 9; glycoprotein-associated
                     amino acid transporter b0,+AT1; b(0,+)AT; cystinuria type
                     3; solute carrier family 7 (glycoprotein-associated amino
                     acid transporter light chain, bo,+ system), member 9;
                     solute carrier family 7 (amino acid transporter light
                     chain, bo,+ system), member 9"
                     /codon_start=1
                     /product="B(0,+)-type amino acid transporter 1"
                     /protein_id="NP_055085.1"
                     /db_xref="CCDS:CCDS12425.1"
                     /db_xref="GeneID:11136"
                     /db_xref="HGNC:HGNC:11067"
                     /db_xref="MIM:604144"
                     /translation="MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTII
                     GSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLME
                     AYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAIL
                     FISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSV
                     GAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFT
                     VMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGRE
                     GHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILG
                     LIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLF
                     YFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE"
     exon            281..428
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            429..671
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            672..797
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            798..897
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            898..942
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1066
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1170
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1267
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1417
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1592
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1766
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1746..1751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /note="hexamer: AATATA"
     polyA_site      1766
                     /gene="SLC7A9"
                     /gene_synonym="BAT1; CSNU3"
                     /note="major polyA site"
ORIGIN      
        1 gccatttcta gggttggacc gtgcaggcac gggcggtcag ctgggccgca gctcctccgg
       61 ctctgcaggg tcacggagga agccagctcc cctagtccag gccgagcttg cacttgcgtc
      121 ttgtctgctg ctgctgaacc aagatttagc tgtgcgccct ccttgcagtc tcctggaacc
      181 agcaggagga aacatggggg atactggcct gagaaagcgg agagaggatg agaagtcgat
      241 ccagagccaa gagcctaaga ccaccagtct ccaaaaggag ctgggcctca tcagtggcat
      301 ctccatcatc gtgggcacca tcattggctc tgggatcttc gtttccccca agtctgtgct
      361 cagcaacacg gaagctgtgg ggccctgcct catcatatgg gcggcttgcg gggtcctcgc
      421 gacgctgggt gccctgtgct ttgcggagct tggcacaatg atcaccaagt cagggggaga
      481 gtatccctac ctgatggagg cctacgggcc catccccgcc tacctcttct cctgggccag
      541 cctgatcgtc attaagccca cgtccttcgc catcatctgc ctcagcttct ccgagtatgt
      601 gtgtgcgccc ttctatgtgg gctgcaagcc tcctcaaatc gttgtgaaat gcctggccgc
      661 cgccgccatc ttgttcatct cgacagtgaa ctcactgagc gtgcggctgg gaagctacgt
      721 ccagaacatc ttcaccgcgg ccaagctggt gatcgtggcc atcatcatca tcagcgggct
      781 ggtgctcctg gcccaaggaa acacaaagaa ttttgataat tctttcgagg gcgcccagct
      841 gtctgtggga gccatcagcc tggcgtttta caatggactc tgggcctatg atggatggaa
      901 tcaactcaat tacatcacag aagaacttag aaacccttac agaaacctgc ctttggccat
      961 tatcatcggg atccccctgg tgacggcgtg ctacatcctc atgaacgtgt cctacttcac
     1021 cgtgatgact gccaccgaac tcctgcagtc ccaggcggtg gctgtgacat ttggtgaccg
     1081 tgttctctat cctgcttctt ggatcgttcc actttttgtg gcattttcaa ccatcggtgc
     1141 tgctaacggg acctgcttca cagcgggcag actcatttac gtggcgggcc gggagggtca
     1201 catgctcaaa gtgctttctt acatcagcgt caggcgcctc actccagccc ccgccatcat
     1261 cttttatggt atcatagcaa cgatttatat catccctggt gacataaact cgttagtcaa
     1321 ttatttcagc tttgccgcat ggctgtttta tggcctgacg attctaggac tcatcgtgat
     1381 gagatttaca aggaaagagc tggaaaggcc tatcaaggtg cccgtagtca ttcccgtctt
     1441 gatgacactc atctctgtgt ttttggttct ggctccaatc atcagcaagc ccacctggga
     1501 gtacctctac tgtgtgctgt ttatattaag cggcctttta ttttacttcc tgtttgtcca
     1561 ctacaagttt ggatgggctc agaaaatctc aaagccgatt accatgcacc ttcagatgct
     1621 aatggaagtg gtcccaccgg aggaagaccc tgagtaacaa gctccgtctc ttgtagccaa
     1681 gtcagctgaa tttattttct taagcaatat ttgtggttat ttcttccttt ttttcttacg
     1741 aataaaatat actcagatgt ttaaaa
//
