LOCUS       NM_032803               2239 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens solute carrier family 7 member 3 (SLC7A3), transcript
            variant 1, mRNA.
ACCESSION   NM_032803
VERSION     NM_032803.6
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 2239)
  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   2  (bases 1 to 2239)
  AUTHORS   Sweeney,M.D., Zhao,Z., Montagne,A., Nelson,A.R. and Zlokovic,B.V.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   3  (bases 1 to 2239)
  AUTHORS   Nava,C., Rupp,J., Boissel,J.P., Mignot,C., Rastetter,A., Amiet,C.,
            Jacquette,A., Dupuits,C., Bouteiller,D., Keren,B., Ruberg,M.,
            Faudet,A., Doummar,D., Philippe,A., Perisse,D., Laurent,C.,
            Lebrun,N., Guillemot,V., Chelly,J., Cohen,D., Heron,D., Brice,A.,
            Closs,E.I. and Depienne,C.
  TITLE     Hypomorphic variants of cationic amino acid transporter 3 in males
            with autism spectrum disorders
  JOURNAL   Amino Acids 47 (12), 2647-2658 (2015)
   PUBMED   26215737
  REMARK    GeneRIF: rare hypomorphic variants of SLC7A3 exist in male
            individuals, SLC7A3 variants possibly contribute to the etiology of
            autism spectrum disorders in male subjects in association with
            other genetic factors
REFERENCE   4  (bases 1 to 2239)
  AUTHORS   Zhao,Z., Nelson,A.R., Betsholtz,C. and Zlokovic,B.V.
  TITLE     Establishment and Dysfunction of the Blood-Brain Barrier
  JOURNAL   Cell 163 (5), 1064-1078 (2015)
   PUBMED   26590417
  REMARK    Review article
REFERENCE   5  (bases 1 to 2239)
  AUTHORS   Gu,Q., Yang,X., Lin,L., Li,S., Li,Q., Zhong,S., Peng,J. and Cui,Z.
  TITLE     Genetic ablation of solute carrier family 7a3a leads to hepatic
            steatosis in zebrafish during fasting
  JOURNAL   Hepatology 60 (6), 1929-1941 (2014)
   PUBMED   25130427
  REMARK    GeneRIF: knockdown impaired AMPK-PPAR-alpha signaling and resulted
            in lipid accumulation under glucose starvation in liver cells
REFERENCE   6  (bases 1 to 2239)
  AUTHORS   Jager,K., Wolf,S., Dobrowolny,H., Steiner,J., Nave,H., Maronde,E.,
            Bogerts,B. and Bernstein,H.G.
  TITLE     Differential topochemistry of three cationic amino acid transporter
            proteins, hCAT1, hCAT2 and hCAT3, in the adult human brain
  JOURNAL   Amino Acids 44 (2), 423-433 (2013)
   PUBMED   22870827
  REMARK    GeneRIF: CAT1, CAT2, and CAT3 localized in adult brains but with
            uneven distribution.
REFERENCE   7  (bases 1 to 2239)
  AUTHORS   Rotmann,A., Vekony,N., Gassner,D., Niegisch,G., Strand,D.,
            Martine,U. and Closs,E.I.
  TITLE     Activation of classical protein kinase C reduces the expression of
            human cationic amino acid transporter 3 (hCAT-3) in the plasma
            membrane
  JOURNAL   Biochem J 395 (1), 117-123 (2006)
   PUBMED   16332251
  REMARK    GeneRIF: It is concluded that similar to hCAT-1, hCAT-3 activity is
            decreased by PKC via reduction of transporter molecules in the
            plasma membrane.
REFERENCE   8  (bases 1 to 2239)
  AUTHORS   Gilles,W., Vulcu,S.D., Liewald,J.F., Habermeier,A., Vekony,N.,
            Closs,E.I., Rupp,J. and Nawrath,H.
  TITLE     Monovalent cation conductance in Xenopus laevis oocytes expressing
            hCAT-3
  JOURNAL   Biochim Biophys Acta 1668 (2), 234-239 (2005)
   PUBMED   15737334
  REMARK    GeneRIF: is concluded that hCAT-3 is a passive transport system
            that conducts monovalent cations including L-Arg.
REFERENCE   9  (bases 1 to 2239)
  AUTHORS   Vekony,N., Wolf,S., Boissel,J.P., Gnauert,K. and Closs,E.I.
  TITLE     Human cationic amino acid transporter hCAT-3 is preferentially
            expressed in peripheral tissues
  JOURNAL   Biochemistry 40 (41), 12387-12394 (2001)
   PUBMED   11591158
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK074865.1, AL627071.16 and
            BC033816.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032803.5.
            
            Summary: This gene encodes a member of the solute carrier family 7.
            The encoded protein is a sodium-independent cationic amino acid
            transporter. Alternate splicing results in multiple transcripts
            that encoded the same protein.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074865.1, AF320612.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374299.8/ ENSP00000363417.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-806               AK074865.1         1-806
            807-807             AL627071.16        57718-57718         c
            808-2236            AK074865.1         808-2236
            2237-2239           BC033816.1         2221-2223
FEATURES             Location/Qualifiers
     source          1..2239
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..2239
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /note="solute carrier family 7 member 3"
                     /db_xref="GeneID:84889"
                     /db_xref="HGNC:HGNC:11061"
                     /db_xref="MIM:300443"
     exon            1..120
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            121..515
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..2005
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /note="solute carrier family 7 (cationic amino acid
                     transporter, y+ system), member 3"
                     /codon_start=1
                     /product="cationic amino acid transporter 3"
                     /protein_id="NP_116192.4"
                     /db_xref="CCDS:CCDS14404.1"
                     /db_xref="GeneID:84889"
                     /db_xref="HGNC:HGNC:11061"
                     /db_xref="MIM:300443"
                     /translation="MPWQAFRRFGQKLVRRRTLESGMAETRLARCLSTLDLVALGVGS
                     TLGAGVYVLAGEVAKDKAGPSIVICFLVAALSSVLAGLCYAEFGARVPRSGSAYLYSY
                     VTVGELWAFTTGWNLILSYVIGTASVARAWSSAFDNLIGNHISKTLQGSIALHVPHVL
                     AEYPDFFALGLVLLLTGLLALGASESALVTKVFTGVNLLVLGFVMISGFVKGDVHNWK
                     LTEEDYELAMAELNDTYSLGPLGSGGFVPFGFEGILRGAATCFYAFVGFDCIATTGEE
                     AQNPQRSIPMGIVISLSVCFLAYFAVSSALTLMMPYYQLQPESPLPEAFLYIGWAPAR
                     YVVAVGSLCALSTSLLGSMFPMPRVIYAMAEDGLLFRVLARIHTGTRTPIIATVVSGI
                     IAAFMAFLFKLTDLVDLMSIGTLLAYSLVSICVLILRYQPDQETKTGEEVELQEEAIT
                     TESEKLTLWGLFFPLNSIPTPLSGQIVYVCSSLLAVLLTALCLVLAQWSVPLLSGDLL
                     WTAVVVLLLLLIIGIIVVIWRQPQSSTPLHFKVPALPLLPLMSIFVNIYLMMQMTAGT
                     WARFGVWMLIGFAIYFGYGIQHSLEEIKSNQPSRKSRAKTVDLDPGTLYVHSV"
     exon            516..674
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            675..852
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            853..965
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1188
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1328
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1431
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1598
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1765
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1766..1874
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1875..2239
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2216..2221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /note="hexamer: ATTAAA"
     regulatory      2221..2226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /note="hexamer: AAGAAA"
     polyA_site      2235
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
     polyA_site      2239
                     /gene="SLC7A3"
                     /gene_synonym="ATRC3; CAT-3; CAT3"
                     /note="major polyA site"
ORIGIN      
        1 aagccgcagc tttgaagcct gagcggccga actcggcagc tccaacccaa ctcggcttaa
       61 ctccgcctca ccgagcccag tccaagactc tgtgctccct aggtttgcaa cagctctctg
      121 atcatcttct tcaattcctg ctaggatgcc gtggcaagca tttcgcagat ttggtcaaaa
      181 gctggtacgc agacgtacac tggagtcagg catggctgag actcgccttg ccagatgcct
      241 aagcaccctg gatttagtgg ccctgggtgt gggcagcaca ttgggtgcag gcgtgtatgt
      301 cctagctggc gaggtggcca aagataaagc agggccatcc attgtgatct gctttttggt
      361 ggctgccctg tcttctgtgt tggctgggct gtgctatgcg gagtttggtg cccgggttcc
      421 ccgttctggt tcggcatatc tctacagcta tgtcactgtg ggtgaactct gggccttcac
      481 cactggctgg aacctcatcc tctcctatgt cattggtaca gccagtgtgg cccgggcctg
      541 gagctctgct tttgacaacc tgattgggaa ccacatctct aagactctgc aggggtccat
      601 tgcactgcac gtgccccatg tccttgcaga atatccagat ttctttgctt tgggcctcgt
      661 gttgctgctc actggattgt tggctctcgg ggctagtgag tcggccctgg ttaccaaagt
      721 gttcacaggc gtgaaccttt tggttcttgg gttcgtcatg atctctggct tcgttaaggg
      781 ggacgtgcac aactggaagc tcacagaaga ggactacgaa ttggccatgg ctgaactcaa
      841 tgacacctat agcttgggtc ctctgggctc tggaggattt gtgcctttcg gcttcgaggg
      901 aattctccgt ggagcagcga cctgtttcta tgcatttgtt ggtttcgact gtattgctac
      961 cactggagaa gaagcccaga atccccagcg ttccatcccg atgggcattg tgatctcact
     1021 gtctgtctgc tttttggcgt attttgctgt ctcttctgca ctcaccctga tgatgcctta
     1081 ctaccagctt cagcctgaga gccctttgcc tgaggcattt ctctacattg gatgggctcc
     1141 tgcccgctat gttgtggctg ttggctccct ctgtgctctt tctaccagcc tcctgggctc
     1201 catgttcccc atgcctcggg tgatctacgc gatggcagag gatggcctcc tgttccgtgt
     1261 acttgctcgg atccacaccg gcacacgcac cccaatcata gccaccgtgg tctctggcat
     1321 tattgcagca ttcatggcat tcctcttcaa actcactgat cttgtggacc tcatgtcaat
     1381 tgggaccctg cttgcttact ccctggtgtc gatttgtgtt ctcatcctca ggtatcaacc
     1441 tgatcaggag acaaagactg gggaagaagt ggagttgcag gaggaggcaa taactactga
     1501 atcagagaag ttgaccctat ggggactatt tttcccactc aactccatcc ccactccact
     1561 ctctggccaa attgtctatg tttgttcctc attgcttgct gtcctgctga ctgctctttg
     1621 cctggtgctg gcccagtggt cagttccatt gctttctgga gacctgctgt ggactgcagt
     1681 ggttgtgctg ctcctgctgc tcattattgg gatcattgtg gtcatctgga gacagccaca
     1741 gagttccact ccccttcact ttaaggtgcc tgctttgcct ctcctcccac taatgagcat
     1801 ctttgtgaat atttacctta tgatgcagat gacagctggt acctgggccc gatttggggt
     1861 ctggatgctg attggctttg ctatctactt cggctatggg atccagcaca gcctggaaga
     1921 gattaagagt aaccaaccct cacgcaagtc tagagccaaa actgtagacc ttgatcccgg
     1981 cactctctat gtccactcag tttgacatcg tcacacctaa atgctgtctg gtcccctgca
     2041 caataatgga gagtactcct gaccccagtg acagctagcc ctcccctgtg atggtggtgg
     2101 tggatactaa tacagttctg tacgatgtga aggatgtgtc tttgctattt cttgtctatt
     2161 ttaacccgtc tgcttctaaa tgatgtctag ctgcttacca actttaaaaa atgatattaa
     2221 aagaaagtag aaaaataaa
//
