LOCUS       NM_001040125            2175 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 66 member 1 (SLC66A1),
            transcript variant 1, mRNA.
ACCESSION   NM_001040125
VERSION     NM_001040125.2
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 2175)
  AUTHORS   Leray,X., Conti,R., Li,Y., Debacker,C., Castelli,F., Fenaille,F.,
            Zdebik,A.A., Pusch,M. and Gasnier,B.
  TITLE     Arginine-selective modulation of the lysosomal transporter PQLC2
            through a gate-tuning mechanism
  JOURNAL   Proc Natl Acad Sci U S A 118 (32) (2021)
   PUBMED   34344826
REFERENCE   2  (bases 1 to 2175)
  AUTHORS   Talaia,G., Amick,J. and Ferguson,S.M.
  TITLE     Receptor-like role for PQLC2 amino acid transporter in the
            lysosomal sensing of cationic amino acids
  JOURNAL   Proc Natl Acad Sci U S A 118 (8) (2021)
   PUBMED   33597295
  REMARK    GeneRIF: Receptor-like role for PQLC2 amino acid transporter in the
            lysosomal sensing of cationic amino acids.
REFERENCE   3  (bases 1 to 2175)
  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   4  (bases 1 to 2175)
  AUTHORS   Jeung,Y.J., Lee,K., Lee,H.J., Kim,E., Son,M.J., Ahn,J., Kim,H.G.,
            Kim,W., Lee,H.J., Kim,J.M. and Chung,K.S.
  TITLE     Cationic amino acid transporter PQLC2 is a potential therapeutic
            target in gastric cancer
  JOURNAL   Cancer Sci 110 (4), 1453-1463 (2019)
   PUBMED   30729615
  REMARK    GeneRIF: knockdown caused growth arrest and cell death of cancer
            cells and suppressed tumor growth in a mouse xenograft model. These
            results suggest that targeting PQLC2 is an effective strategy for
            GC treatment.
REFERENCE   5  (bases 1 to 2175)
  AUTHORS   Jezegou,A., Llinares,E., Anne,C., Kieffer-Jaquinod,S., O'Regan,S.,
            Aupetit,J., Chabli,A., Sagne,C., Debacker,C.,
            Chadefaux-Vekemans,B., Journet,A., Andre,B. and Gasnier,B.
  TITLE     Heptahelical protein PQLC2 is a lysosomal cationic amino acid
            exporter underlying the action of cysteamine in cystinosis therapy
  JOURNAL   Proc Natl Acad Sci U S A 109 (50), E3434-E3443 (2012)
   PUBMED   23169667
  REMARK    GeneRIF: PQLC2 and Ypq1-3 proteins are lysosomal/vacuolar exporters
            of CAAs and suggest that small-molecule transport is a conserved
            feature of the PQ-loop protein family
            Erratum:[Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3197]
REFERENCE   6  (bases 1 to 2175)
  AUTHORS   Liu,B., Du,H., Rutkowski,R., Gartner,A. and Wang,X.
  TITLE     LAAT-1 is the lysosomal lysine/arginine transporter that maintains
            amino acid homeostasis
  JOURNAL   Science 337 (6092), 351-354 (2012)
   PUBMED   22822152
REFERENCE   7  (bases 1 to 2175)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA202894.1, DA560373.1, AK125580.1 and BC015324.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001040125.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.637472.1, AK125580.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375153.8/ ENSP00000364295.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DA202894.1         81-82
            3-432               DA560373.1         1-430
            433-1159            AK125580.1         431-1157
            1160-2175           BC015324.1         533-1548
FEATURES             Location/Qualifiers
     source          1..2175
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2175
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="solute carrier family 66 member 1"
                     /db_xref="GeneID:54896"
                     /db_xref="HGNC:HGNC:26001"
                     /db_xref="MIM:614760"
     exon            1..564
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            565..806
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             643..1518
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PQ-loop repeat-containing protein 2; lysosomal amino acid
                     transporter 1 homolog; PQ loop repeat containing 2"
                     /codon_start=1
                     /product="lysosomal amino acid transporter 1 homolog
                     isoform 1"
                     /protein_id="NP_001035214.1"
                     /db_xref="CCDS:CCDS195.2"
                     /db_xref="GeneID:54896"
                     /db_xref="HGNC:HGNC:26001"
                     /db_xref="MIM:614760"
                     /translation="MVWKKLGSRNFSSCPSGSIQWIWDVLGECAQDGWDEASVGLGLI
                     SILCFAASTFPQFIKAYKTGNMDQALSLWFLLGWIGGDSCNLIGSFLADQLPLQTYTA
                     VYYVLADLVMLTLYFYYKFRTRPSLLSAPINSVLLFLMGMACATPLLSAAGPVAAPRE
                     AFRGRALLSVESGSKPFTRQEVIGFVIGSISSVLYLLSRLPQIRTNFLRKSTQGISYS
                     LFALVMLGNTLYGLSVLLKNPEEGQSEGSYLLHHLPWLVGSLGVLLLDTIISIQFLVY
                     RRSTAASELEPLLPS"
     exon            807..936
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            937..1024
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1167
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1260
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1446
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..2175
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2137..2142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="hexamer: AATAAA"
     polyA_site      2175
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="major polyA site"
ORIGIN      
        1 agaagctggg ccctggcggc ggatctggac gtggtgagcc ggaccggggg caggtggcaa
       61 acttcacggc tgggggtcgg ggctcctggg cttccctgcc acatccttcc agccctctcc
      121 tccggccgct ggactgtccc ggctcctgcg ccctccttgt ggcgcgatat cgtgggacga
      181 ggctccgggc cgggactggg tggccctcgg gaatccgcag ccagtggccc cccacctcaa
      241 aggcgaccag cgcggcctct cgagctggcc tggccaggag ttgccctgcc ccggccgacc
      301 ggccccttgg catctgatgg cttcgttttt cccgggccgg ccgggcgagg ggccctcgcg
      361 gcgctggccc cagcagctgt cctatcatta tccctccaaa caggcggccc gcgccgggct
      421 gagtcaccag gagggagctg tggccgagga cgccgaggcc tggagtgggt ggtagccccg
      481 agctgggacg ctcctccctc cacaatctcc ccaggtctgc agggaccgag ggcctacact
      541 gcctcctccc acgccgtgct taggaaccct tgctggcctc agaacaccag cgccctccct
      601 ccggtgcagc cctgcctggc cgggggcccc tcctccacag ccatggtctg gaagaaactg
      661 ggctcccgca acttctccag ctgccccagt ggctccatcc agtggatatg ggatgtgttg
      721 ggtgaatgtg cccaggacgg ctgggacgag gccagcgtgg gcctgggctt gatctccatt
      781 ctctgctttg ctgcatctac cttcccccag ttcatcaaag cctacaagac gggcaacatg
      841 gaccaggcgc tgtccctgtg gttcctcctg ggctggattg gcggagactc ctgcaacctc
      901 atcggctcct tccttgctga ccagctgccc ctgcagacct acacggctgt gtattatgtc
      961 ttggcagacc tggtgatgct gacgctgtac ttttactaca agttcaggac gcgcccctct
     1021 ctgttgtctg cccccatcaa ctccgtgctg ttgttcctca tggggatggc gtgcgccaca
     1081 ccgctgctga gtgctgctgg gcccgtggct gcccctaggg aagccttccg ggggcgggcg
     1141 ctcctgtccg tggagtcggg cagcaagccc ttcacccggc aggaagtcat tggcttcgtc
     1201 atcggctcca tctccagcgt gttgtacctg ctttcccggc tgcctcagat ccgcaccaac
     1261 ttcctccgga agtccaccca ggggatctcc tactctctgt tcgcgctggt gatgctgggg
     1321 aacacgctgt atgggctgag cgtgctgctc aaaaaccccg aggagggcca gagcgagggc
     1381 agctacctgc tgcaccacct gccctggctt gtgggcagcc tgggcgtgct gctgctcgac
     1441 accatcatct ccatccagtt cctggtgtac aggcgcagca ccgccgcctc ggagcttgag
     1501 cccctcctcc ccagctgacc agaaccaggc tgagcgcagg aggacaggca ccaccggatg
     1561 ccacaccagg caggaggagg tgtggacagt gatggtacgg cggccctgca tcagcctgcg
     1621 ggtggcctct ggatcctccg tggaccgaac cgtcccccca ggaacacacc ttcaggtaga
     1681 ccccgaagcc tcaaggccgg ggctggagcg gagaccccag ggcctctcag gagacagtga
     1741 ggctgcccct cctaccacct acctcattct gcctactcac cccaggggcc acagccacag
     1801 cctgctggac tcaggactgt cctgtcaact ccagacaact gaataaacag gccgggtaca
     1861 gtggctcgca cctgtaatcc tagcactttg ggaggccgaa gcgggtggac cacttgacgt
     1921 ccgtagttcg agaccagcct ggccaacatg gtgaaacccc atctctacta aaaatacaaa
     1981 aattagccag gtgtggtggc acacatctgt agtcccagct acttgggagg ctgaggcagg
     2041 agaactgttt gaacctggga gacagaggtt gcggtgaacc gagatcgtgc cactgtactc
     2101 cagcctgggt gacagagtga gactccgtct caaaaaaata aaaaagataa ccgaggaaac
     2161 ggtacctccc catga
//
