LOCUS       NM_001003841            5168 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 6 member 19 (SLC6A19), mRNA.
ACCESSION   NM_001003841 XM_291120
VERSION     NM_001003841.3
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 5168)
  AUTHORS   Zhang,Q., Gefter,J., Sneddon,W.B., Mamonova,T. and Friedman,P.A.
  TITLE     ACE2 interaction with cytoplasmic PDZ protein enhances SARS-CoV-2
            invasion
  JOURNAL   iScience 24 (7), 102770 (2021)
   PUBMED   34189428
REFERENCE   2  (bases 1 to 5168)
  AUTHORS   Yan,R., Zhang,Y., Li,Y., Ye,F., Guo,Y., Xia,L., Zhong,X., Chi,X.
            and Zhou,Q.
  TITLE     Structural basis for the different states of the spike protein of
            SARS-CoV-2 in complex with ACE2
  JOURNAL   Cell Res 31 (6), 717-719 (2021)
   PUBMED   33737693
REFERENCE   3  (bases 1 to 5168)
  AUTHORS   Ferreira-Duarte,M., Estevinho,M.M., Duarte-Araujo,M., Magro,F. and
            Morato,M.
  TITLE     Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2,
            in Inflammatory Bowel Disease
  JOURNAL   Inflamm Bowel Dis 26 (12), 1787-1795 (2020)
   PUBMED   33064147
  REMARK    GeneRIF: Unraveling the Role of ACE2, the Binding Receptor for
            SARS-CoV-2, in Inflammatory Bowel Disease.
            Review article
REFERENCE   4  (bases 1 to 5168)
  AUTHORS   Yan,R., Zhang,Y., Li,Y., Xia,L., Guo,Y. and Zhou,Q.
  TITLE     Structural basis for the recognition of SARS-CoV-2 by full-length
            human ACE2
  JOURNAL   Science 367 (6485), 1444-1448 (2020)
   PUBMED   32132184
  REMARK    GeneRIF: The ACE2-B0AT1 complex exists as a dimer of heterodimers.
            Structural alignment of the RBD-ACE2-B0AT1 ternary complex with the
            S protein of SARS-CoV-2 suggests that two S protein trimers can
            simultaneously bind to an ACE2 homodimer.
REFERENCE   5  (bases 1 to 5168)
  AUTHORS   Cai,K., Wang,J., Eissman,J., Wang,J., Nwosu,G., Shen,W.,
            Liang,H.C., Li,X.J., Zhu,H.X., Yi,Y.H., Song,J., Xu,D., Delpire,E.,
            Liao,W.P., Shi,Y.W. and Kang,J.Q.
  TITLE     A missense mutation in SLC6A1 associated with Lennox-Gastaut
            syndrome impairs GABA transporter 1 protein trafficking and
            function
  JOURNAL   Exp Neurol 320, 112973 (2019)
   PUBMED   31176687
  REMARK    GeneRIF: discovered a heterozygous missense mutation (c700G to A
            [pG234S) in the SLC6A1 encoding GABA transporter 1
REFERENCE   6  (bases 1 to 5168)
  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   7  (bases 1 to 5168)
  AUTHORS   Broer,A., Klingel,K., Kowalczuk,S., Rasko,J.E., Cavanaugh,J. and
            Broer,S.
  TITLE     Molecular cloning of mouse amino acid transport system B0, a
            neutral amino acid transporter related to Hartnup disorder
  JOURNAL   J Biol Chem 279 (23), 24467-24476 (2004)
   PUBMED   15044460
REFERENCE   8  (bases 1 to 5168)
  AUTHORS   Nozaki,J., Dakeishi,M., Ohura,T., Inoue,K., Manabe,M., Wada,Y. and
            Koizumi,A.
  TITLE     Homozygosity mapping to chromosome 5p15 of a gene responsible for
            Hartnup disorder
  JOURNAL   Biochem Biophys Res Commun 284 (2), 255-260 (2001)
   PUBMED   11394870
REFERENCE   9  (bases 1 to 5168)
  AUTHORS   Pan,M. and Stevens,B.R.
  TITLE     Differentiation- and protein kinase C-dependent regulation of
            alanine transport via system B
  JOURNAL   J Biol Chem 270 (8), 3582-3587 (1995)
   PUBMED   7876094
  REMARK    GeneRIF: Functional characterization of sodium-coupled neutral
            'amino acid transport system B' in apical brush border membrane of
            an intact intestinal cell.
REFERENCE   10 (bases 1 to 5168)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290811.1, AY596807.1,
            AC114291.2 and AI015994.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001003841.2.
            
            Summary: This gene encodes a system B(0) transmembrane protein that
            actively transports most neutral amino acids across the apical
            membrane of epithelial cells. Mutations in this gene may result in
            Hartnup disorder, an inherited disease with symptoms such as
            pellagra, cerebellar ataxia, and psychosis. The expression and
            function of B0AT1 (SLC6A19) in intestinal cells depends on the
            presence of the accessory protein angiotensin-converting enzyme 2
            (ACE2) which, among other functions, acts as a chaperone for
            membrane trafficking of B0AT1. The ACE2 is also the cellular
            receptor for severe acute respiratory syndrome-coronavirus
            (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019
            (COVID-19) pandemic [provided by RefSeq, Jul 2020].
            
            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 :: AK290811.1, AY591756.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in SARS-CoV-2 infection
            MANE Ensembl match     :: ENST00000304460.11/ ENSP00000305302.10
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AK290811.1         1-56
            57-1961             AY596807.1         1-1905
            1962-2158           AK290811.1         1962-2158
            2159-4839           AC114291.2         106109-108789
            4840-5168           AI015994.1         16-344              c
FEATURES             Location/Qualifiers
     source          1..5168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..5168
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="solute carrier family 6 member 19"
                     /db_xref="GeneID:340024"
                     /db_xref="HGNC:HGNC:27960"
                     /db_xref="MIM:608893"
     exon            1..258
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1961
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="solute carrier family 6 (neurotransmitter
                     transporter), member 19; sodium-dependent amino acid
                     transporter system B0; solute carrier family 6 (neutral
                     amino acid transporter), member 19; system B0 neutral
                     amino acid transporter; system B(0) neutral amino acid
                     transporter AT1; broad neutral amino acid transporter 1"
                     /codon_start=1
                     /product="sodium-dependent neutral amino acid transporter
                     B(0)AT1"
                     /protein_id="NP_001003841.1"
                     /db_xref="CCDS:CCDS34130.1"
                     /db_xref="GeneID:340024"
                     /db_xref="HGNC:HGNC:27960"
                     /db_xref="MIM:608893"
                     /translation="MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLT
                     CLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVLEGIPLLYLEFAIGQRLRRGSLG
                     VWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQT
                     GYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIET
                     TGKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVF
                     FSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYD
                     DCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEA
                     VEGTGLAFIVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIP
                     PKWPKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGSIPLLIIAFCEMFSVVYV
                     YGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTYSIWDPG
                     YEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLS
                     TASMNGDLKY"
     exon            259..399
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            400..537
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            538..719
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            720..830
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            831..943
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1072
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1229
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1434
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1594
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1757
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..5168
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4415..4420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="hexamer: AATAAA"
     polyA_site      4442
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
     regulatory      5143..5148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="hexamer: AATAAA"
     polyA_site      5168
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="major polyA site"
ORIGIN      
        1 actcgccctc cagcttctgc cctgcctgct gtgtgcggag ccgtccagcg accaccatgg
       61 tgaggctcgt gctgcccaac cccggcctag acgcccggat cccgtccctg gctgagctgg
      121 agaccatcga gcaggaggag gccagctccc ggccgaagtg ggacaacaag gcgcagtaca
      181 tgctcacctg cctgggcttc tgcgtgggcc tcggcaacgt gtggcgcttc ccctacctgt
      241 gtcagagcca cggaggagga gccttcatga tcccgttcct catcctgctg gtcctggagg
      301 gcatccccct gctgtacctg gagttcgcca tcgggcagcg gctgcggcgg ggcagcctgg
      361 gtgtgtggag ctccatccac ccggccctga agggcctagg cctggcctcc atgctcacgt
      421 ccttcatggt gggactgtat tacaacacca tcatctcctg gatcatgtgg tacttattca
      481 actccttcca ggagcctctg ccctggagcg actgcccgct caacgagaac cagacagggt
      541 atgtggacga gtgcgccagg agctcccctg tggactactt ctggtaccga gagacgctca
      601 acatctccac gtccatcagc gactcgggct ccatccagtg gtggatgctg ctgtgcctgg
      661 cctgcgcatg gagcgtcctg tacatgtgca ccatccgcgg catcgagacc accgggaagg
      721 ccgtgtacat cacctccacg ctgccctatg tcgtcctgac catcttcctc atccgaggcc
      781 tgacgctgaa gggcgccacc aatggcatcg tcttcctctt cacgcccaac gtcacggagc
      841 tggcccagcc ggacacctgg ctggacgcgg gcgcacaggt cttcttctcc ttctccctgg
      901 ccttcggggg cctcatctcc ttctccagct acaactctgt gcacaacaac tgcgagaagg
      961 actcggtgat tgtgtccatc atcaacggct tcacatcggt gtatgtggcc atcgtggtct
     1021 actccgtcat tgggttccgc gccacacagc gctacgacga ctgcttcagc acgaacatcc
     1081 tgaccctcat caacgggttc gacctgcctg aaggcaacgt gacccaggag aactttgtgg
     1141 acatgcagca gcggtgcaac gcctccgacc ccgcggccta cgcgcagctg gtgttccaga
     1201 cctgcgacat caacgccttc ctctcagagg ccgtggaggg cacaggcctg gccttcatcg
     1261 tcttcaccga ggccatcacc aagatgccgt tgtccccact gtggtctgtg ctcttcttca
     1321 ttatgctctt ctgcctgggg ctgtcatcta tgtttgggaa catggagggc gtcgttgtgc
     1381 ccctgcagga cctcagagtc atccccccga agtggcccaa ggaggtgctc acaggcctca
     1441 tctgcctggg gacattcctc attggcttca tcttcacgct gaactccggc cagtactggc
     1501 tctccctgct ggacagctat gccggctcca ttcccctgct catcatcgcc ttctgcgaga
     1561 tgttctctgt ggtctacgtg tacggtgtgg acaggttcaa taaggacatc gagttcatga
     1621 tcggccacaa gcccaacatc ttctggcaag tcacgtggcg cgtggtcagc cccctgctca
     1681 tgctgatcat cttcctcttc ttcttcgtgg tagaggtcag tcaggagctg acctacagca
     1741 tctgggaccc tggctacgag gaatttccca aatcccagaa gatctcctac ccgaactggg
     1801 tgtatgtggt ggtggtgatt gtggctggag tgccctccct caccatccct ggctatgcca
     1861 tctacaagct catcaggaac cactgccaga agccagggga ccatcagggg ctggtgagca
     1921 cactgtccac agcctccatg aacggggacc tgaagtactg agaaggccca tcccacggcg
     1981 tgccatacac tggtgtcagg gaaggaggaa ccagcaagac ctgtggggtg ggggccgggc
     2041 tgcacctgca tgtgtgtaag cgtgagtgta tgctcgtgtg tgagtgtgtg tattgtacac
     2101 gcatgtgcca tgtgtgcaga tatgtatcgt gtgtgcatgt acatgcatgg gcactgtgtg
     2161 agtgtgcacg tgtatgcaca catatacatg tgtgtgggtg tgtgtattgt atgtgcatgt
     2221 gccatgtgtg cagatgtgtc atgttgtgtg tgtgcatgta catgtatgga cattgtgtga
     2281 gtgtgcaagt gtgcatgcat atacatgtgt gcgatatttg ctgcccgtgt gtgtgcatgt
     2341 atatatagac atacatgcct atgttgtgtg tggtgtgcat atgtgtgaac acacacgtgt
     2401 atacatgcat gcacatgtgc tcgtacaatg ggtgtccaca tgcacgtgta tatgtatatc
     2461 tgtgagtgta tatacatgca tgcaattgtg tgtatgtgtg ttctgtgtgt gcgtttgcaa
     2521 gtatatatgc acatgtgtat atgtacatgt atgcctgtgt gacgtgtgta tatgtgagca
     2581 tgtgtacgtg tgtgtatacg tgtgttgtgt atatgtgtgt gtctgtacct gtttgtgtat
     2641 atgtgtgtga tgtgtgctcg tgtgtgtgca tattcaggca ggtgtgcatt tgtgcatgcc
     2701 agtgtgtatg tatgtgcgca tatggacacg catggacacg catatggaca catatggaca
     2761 cacatatgga cacgtgtgga tatgtgtgcg tacacgtcgc tgggacacat gcctgccact
     2821 cggggcccag ctgccctctg tgtttgtcct tgccacagtc acggggtgca tgtgcagagg
     2881 ggagcagacc actggggacg tgctgtgccc tgcacgtgcc cgggggaagc ggaagctgca
     2941 gctggggtgg gggcagcacc tctatgcttc atctctgtgg gtggcaggag acaaaagcac
     3001 agggtactat cttggctcct gggagcgact cttgctaccc acccccaccc atccccttcc
     3061 ccttggtgtt gacctttgac ctgggggttc ccagagccct gtagccctcg acccggagca
     3121 gcctctcgga agccggagtg ggcagttgct ggcgattctg agaaaacttg gccgcatcca
     3181 ccggggccct gcctccagtc ggccgctgcc gagtctctgc gttctggccg cttcccggct
     3241 taatgaatgc cagccattta atcattgctc ctgccaccac aaatagatga gcagttaaat
     3301 aaaactcaac ttggcataat tcaaggcaaa taccactctg tgcattttct taagaggaca
     3361 tgagctgtgt gaatttttag ccagcctttg gaaaagatgg gttacagggt aactcaaccc
     3421 tggctgccat ccttgggcac tgtgtgtgtc cagggcacct tggaggaccg tgcagccccc
     3481 agaagcttcc agctcccgca ccactcagtg aagcccagcc tggcgcctgc cctgcccccg
     3541 tcacgggatg ggcccccatt ggggttcaac attccatcgc agccaaaggc agtcggcact
     3601 tgggacatct gcttccacgg acaggtcacc tccgctttgc acggaagaat ctggatgctt
     3661 acattaaact ggtgttctga gagttcctac ggacaggtca cctccgcttt gcatggaaga
     3721 atctggatgc ttacattaaa ctggtgttct gagagttcct acggacaggt cacctctgct
     3781 ttccatagaa gaatctggac gcttacatta aactgatgtt ctgagaattc ctacaggcag
     3841 gactgaaagc ctggtgtgtg ccagtatgat gttccaccca cagaaacctg gtcacaatcg
     3901 tcccttccag caccccatcc agcagtgact gcacacactg agtcccctac cagccccttt
     3961 caccctgctg actgtcactg ggccctggga tgcgcaagac tccacagcag cagaggtggg
     4021 gggacatatc acagcctctg cccccggctg tgatgccacc gaggggctcg cctgctgatg
     4081 gcttcaacag ggtctcacct catcttttcc tgctctttgg ccctggatcg agaaaatttc
     4141 catcagtgcc ccattaatat gctgccctgt ggcatctgcc caggaggccc tgccaggcgt
     4201 gcacaggtgt gcattggtgt accctggcat gcacaggtgt gcactgatgt gccctggcat
     4261 ccattggtgt accctggtgt gcctgccata ggaccctggg cgggagctcc catctcatct
     4321 acatctcctg attcatgcgt tgtttcatag gtttcaatgt ctctgtaaat gtggtagaaa
     4381 tgcaggcttt atgggcataa agtgtacatt tctaaataaa tcccttctat tgagtatgct
     4441 caccctagaa gttactgttg tccagacgta gagggatgag tgagccagtg acctcagacg
     4501 ggatggtggg gacggcaggt ccagctcctg cctcctcctg gggggtctgg ctttgggggc
     4561 ttgctccgaa gaggccatgg cccaggcctg tggcctcaca atggggacca accagctctt
     4621 ctcatcttct tccctcacac ttcctctcac tcaaataaga accttccaaa aatgtgtcca
     4681 cctgggcccc tgccctggga ctcatggatt tggagttgtg gccacacggt tgaggggtgc
     4741 agtgtccagt ggaatggggc aattgcgggc ctgggggccc ttggcctgtc cgtggcggga
     4801 gcatctgcaa ggaggagccc cagagtccag ggagcactgt ggggagctcc ttagagctga
     4861 actcacccgg cgtcaactca tcaaccctcc acccatggac aggggtgccc ccagcacagg
     4921 agaggactca gccctctgcc cccacgcacg gtgggtgcct gtcaccctgt cctgcccagc
     4981 ggcccgaggg cagcagtggg tgtgagggca gcccccggcc tcccaagagc agctgagagg
     5041 atccctgcgg gaatccgggc ttcgggtgca tgcgatctga tctgagttgt ttctgacagt
     5101 gacagagtga caatctataa gtatctcaag atcaaatggt taaataaaac ataagaaatt
     5161 taaaacga
//
