LOCUS       NM_003982               2082 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens solute carrier family 7 member 7 (SLC7A7), transcript
            variant 1, mRNA.
ACCESSION   NM_003982 NR_040448
VERSION     NM_003982.4
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 2082)
  AUTHORS   Sato,M., Harada-Shoji,N., Toyohara,T., Soga,T., Itoh,M.,
            Miyashita,M., Tada,H., Amari,M., Anzai,N., Furumoto,S., Abe,T.,
            Suzuki,T., Ishida,T. and Sasano,H.
  TITLE     L-type amino acid transporter 1 is associated with chemoresistance
            in breast cancer via the promotion of amino acid metabolism
  JOURNAL   Sci Rep 11 (1), 589 (2021)
   PUBMED   33436954
  REMARK    GeneRIF: L-type amino acid transporter 1 is associated with
            chemoresistance in breast cancer via the promotion of amino acid
            metabolism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2082)
  AUTHORS   Stroup,B.M., Marom,R., Li,X., Hsu,C.W., Chang,C.Y., Truong,L.D.,
            Dawson,B., Grafe,I., Chen,Y., Jiang,M.M., Lanza,D., Green,J.R.,
            Sun,Q., Barrish,J.P., Ani,S., Christiansen,A.E., Seavitt,J.R.,
            Dickinson,M.E., Kheradmand,F., Heaney,J.D., Lee,B. and Burrage,L.C.
  TITLE     A global Slc7a7 knockout mouse model demonstrates characteristic
            phenotypes of human lysinuric protein intolerance
  JOURNAL   Hum Mol Genet 29 (13), 2171-2184 (2020)
   PUBMED   32504080
  REMARK    GeneRIF: A global Slc7a7 knockout mouse model demonstrates
            characteristic phenotypes of human lysinuric protein intolerance.
REFERENCE   3  (bases 1 to 2082)
  AUTHORS   Rotoli,B.M., Barilli,A., Visigalli,R., Ferrari,F. and Dall'Asta,V.
  TITLE     y+LAT1 and y+LAT2 contribution to arginine uptake in different
            human cell models: Implications in the pathophysiology of Lysinuric
            Protein Intolerance
  JOURNAL   J Cell Mol Med 24 (1), 921-929 (2020)
   PUBMED   31705628
  REMARK    GeneRIF: y+LAT1 and y+LAT2 contribution to arginine uptake in
            different human cell models: Implications in the pathophysiology of
            Lysinuric Protein Intolerance.
REFERENCE   4  (bases 1 to 2082)
  AUTHORS   Cui,D., Hu,Y.H., Tang,G., Shen,D., Chen,L., Liao,J.X. and Chen,S.L.
  TITLE     [Clinical features of children with lysinuric protein intolerance
            and SLC7A7 gene mutation: an analysis of 3 cases]
  JOURNAL   Zhongguo Dang Dai Er Ke Za Zhi 21 (4), 375-380 (2019)
   PUBMED   31014432
  REMARK    GeneRIF: SLC7A7 gene detection showed three pathogenic mutations in
            these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X)
            and homozygous c.625+1G>A
REFERENCE   5  (bases 1 to 2082)
  AUTHORS   Rotoli,B.M., Barilli,A., Ingoglia,F., Visigalli,R., Bianchi,M.G.,
            Ferrari,F., Martinelli,D., Dionisi-Vici,C. and Dall'Asta,V.
  TITLE     Analysis of LPI-causing mutations on y+LAT1 function and
            localization
  JOURNAL   Orphanet J Rare Dis 14 (1), 63 (2019)
   PUBMED   30832686
  REMARK    GeneRIF: The three mutations studied of y+LAT1 transporter result
            in a defective arginine transport both in ex vivo (monocytes) and
            in vitro (CHO transfected cells) models, likely caused by the
            retention of the mutated proteins in the cytosol
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2082)
  AUTHORS   Sperandeo,M.P., Bassi,M.T., Riboni,M., Parenti,G., Buoninconti,A.,
            Manzoni,M., Incerti,B., Larocca,M.R., Di Rocco,M., Strisciuglio,P.,
            Dianzani,I., Parini,R., Candito,M., Endo,F., Ballabio,A.,
            Andria,G., Sebastio,G. and Borsani,G.
  TITLE     Structure of the SLC7A7 gene and mutational analysis of patients
            affected by lysinuric protein intolerance
  JOURNAL   Am J Hum Genet 66 (1), 92-99 (2000)
   PUBMED   10631139
REFERENCE   7  (bases 1 to 2082)
  AUTHORS   Pfeiffer,R., Rossier,G., Spindler,B., Meier,C., Kuhn,L. and
            Verrey,F.
  TITLE     Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and
            members of the glycoprotein-associated amino acid transporter
            family
  JOURNAL   EMBO J 18 (1), 49-57 (1999)
   PUBMED   9878049
REFERENCE   8  (bases 1 to 2082)
  AUTHORS   Torrents,D., Estevez,R., Pineda,M., Fernandez,E., Lloberas,J.,
            Shi,Y.B., Zorzano,A. and Palacin,M.
  TITLE     Identification and characterization of a membrane protein (y+L
            amino acid transporter-1) that associates with 4F2hc to encode the
            amino acid transport activity y+L. A candidate gene for lysinuric
            protein intolerance
  JOURNAL   J Biol Chem 273 (49), 32437-32445 (1998)
   PUBMED   9829974
REFERENCE   9  (bases 1 to 2082)
  AUTHORS   Lauteala,T., Sistonen,P., Savontaus,M.L., Mykkanen,J., Simell,J.,
            Lukkarinen,M., Simell,O. and Aula,P.
  TITLE     Lysinuric protein intolerance (LPI) gene maps to the long arm of
            chromosome 14
  JOURNAL   Am J Hum Genet 60 (6), 1479-1486 (1997)
   PUBMED   9199570
REFERENCE   10 (bases 1 to 2082)
  AUTHORS   Nunes,V. and Niinikoski,H.
  TITLE     Lysinuric Protein Intolerance
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301535
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA044956.1, BX161519.1 and
            Y18474.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Sep 18, 2019 this sequence version replaced
            NR_040448.2, NM_003982.3.
            
            Summary: The protein encoded by this gene is the light subunit of a
            cationic amino acid transporter. This sodium-independent
            transporter is formed when the light subunit encoded by this gene
            dimerizes with the heavy subunit transporter protein SLC3A2. This
            transporter is found in epithelial cell membranes where it
            transfers cationic and large neutral amino acids from the cell to
            the extracellular space. Defects in this gene are a cause of
            lysinuric protein intolerance (LPI). Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jul 2011].
            
            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 :: BC010107.2, AK025377.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000674313.1/ ENSP00000501493.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               DA044956.1         430-572
            144-2014            BX161519.1         193-2063
            2015-2082           Y18474.2           2098-2165
FEATURES             Location/Qualifiers
     source          1..2082
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2082
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /note="solute carrier family 7 member 7"
                     /db_xref="GeneID:9056"
                     /db_xref="HGNC:HGNC:11065"
                     /db_xref="MIM:603593"
     exon            1..116
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            117..657
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1694
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /note="solute carrier family 7 (cationic amino acid
                     transporter, y+ system), member 7; y(+)L-type amino acid
                     transporter 1; monocyte amino acid permease 2; solute
                     carrier family 7 (amino acid transporter light chain, y+L
                     system), member 7; lysinuric protein intolerance
                     (dibasicaminoaciduria II)"
                     /codon_start=1
                     /product="Y+L amino acid transporter 1"
                     /protein_id="NP_003973.3"
                     /db_xref="GeneID:9056"
                     /db_xref="HGNC:HGNC:11065"
                     /db_xref="MIM:603593"
                     /translation="MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVC
                     LIVGNMIGSGIFVSPKGVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGA
                     SYAYILEAFGGFLAFIRLWTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRL
                     LAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSF
                     EGSSFAVGDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYIL
                     TNVAYYTVLDMRDILASDAVAVTFADQIFGIFNWIIPLSVALSCFGGLNASIVAASRL
                     FFVGSREGHLPDAICMIHVERFTPVPSLLFNGIMALIYLCVEDIFQLINYYSFSYWFF
                     VGLSIVGQLYLRWKEPDRPRPLKLSVFFPIVFCLCTIFLVAVPLYSDTINSLIGIAIA
                     LSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSVAAEMDLEDGGEMPKQRDP
                     KSN"
     exon            658..783
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..928
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1052
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1156
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1253
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1403
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1587
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..2082
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2061..2066
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /note="hexamer: AATAAA"
     polyA_site      2082
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /note="major polyA site"
ORIGIN      
        1 cccttttact gctggctggg aaggaggagc atcagaccac agatcctgga aggcacttct
       61 ctccctgact gctgctcaca ctgccgtgag aacctgctta tatccaggac caaggaggca
      121 atgccaggaa gctggtgaag ggtttcctct cctccaccat ggttgacagc actgagtatg
      181 aagtggcctc ccagcctgag gtggaaacct cccctttggg tgatggggcc agcccagggc
      241 cggagcaggt gaagctgaag aaggagatct cactgcttaa cggcgtgtgc ctgattgtgg
      301 ggaacatgat cggctcgggc atctttgttt cccccaaggg tgtgctcata tacagtgcct
      361 cctttggtct ctctctggtc atctgggctg tcgggggcct cttctccgtc tttggggccc
      421 tttgttatgc ggaactgggc accaccatta agaaatctgg ggccagctat gcctatatcc
      481 tggaggcctt tggaggattc cttgctttca tcagactctg gacctccctg ctcatcattg
      541 agcccaccag ccaggccatc attgccatca cctttgccaa ctacatggta cagcctctct
      601 tcccgagctg cttcgcccct tatgctgcca gccgcctgct ggctgctgcc tgcatttgtc
      661 tcttaacctt cattaactgt gcctatgtca aatggggaac cctggtacaa gatattttca
      721 cctatgctaa agtattggca ctgatcgcgg tcatcgttgc aggcattgtt agacttggcc
      781 agggagcctc tactcatttt gagaattcct ttgagggttc atcatttgca gtgggtgaca
      841 ttgccctggc actgtactca gctctgttct cctactcagg ctgggacacc ctcaactatg
      901 tcactgaaga gatcaagaat cctgagagga acctgcccct ctccattggc atctccatgc
      961 ccattgtcac catcatctat atcttgacca atgtggccta ttatactgtg ctagacatga
     1021 gagacatctt ggccagtgat gctgttgctg tgacttttgc agatcagata tttggaatat
     1081 ttaactggat aattccactg tcagttgcat tatcctgttt tggtggcctc aatgcctcca
     1141 ttgtggctgc ttctaggctt ttctttgtgg gctcaagaga aggccatctc cctgatgcca
     1201 tctgcatgat ccatgttgag cggttcacac cagtgccttc tctgctcttc aatggtatca
     1261 tggcattgat ctacttgtgc gtggaagaca tcttccagct cattaactac tacagcttca
     1321 gctactggtt ctttgtgggg ctttctattg tgggtcagct ttatctgcgc tggaaggagc
     1381 ctgatcgacc tcgtcccctc aagctcagcg ttttcttccc gattgtcttc tgcctctgca
     1441 ccatcttcct ggtggctgtt ccactttaca gtgatactat caactccctc atcggcattg
     1501 ccattgccct ctcaggcctg cccttttact tcctcatcat cagagtgcca gaacataagc
     1561 gaccgcttta cctccgaagg atcgtggggt ctgccacaag gtacctccag gtcctgtgta
     1621 tgtcagttgc tgcagaaatg gatttggaag atggaggaga gatgcccaag caacgggatc
     1681 ccaaatctaa ctaaacacca tctggaatcc tgatgtggaa agcaggggtt tctggtctac
     1741 tggctagagc taaggaagtt gaaaaggaaa gctcacttct ttggaggcac ctgtccagaa
     1801 gcctggccta ggcagcttca acctttgaac ttactttttg aaatgaaaag taatttattt
     1861 gttttgctac atactgttcc agacttttaa aggggacaat gaaggtgact gtggggagga
     1921 gcatgtcagg tttgggcttg gttgttttag aagcacctgg gtgtgcctac ctactcctct
     1981 tttcttttaa aagggcccac aatgctccaa tttcctgtct cctttagaga gacatgaaac
     2041 tatcacaggt gctggatgac aataaaagtt tatgttccta aa
//
