LOCUS       NM_012244               4236 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens solute carrier family 7 member 8 (SLC7A8), transcript
            variant 1, mRNA.
ACCESSION   NM_012244
VERSION     NM_012244.4
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 4236)
  AUTHORS   Crocco,P., Dato,S., La Grotta,R., Passarino,G. and Rose,G.
  TITLE     Evidence for a relationship between genetic polymorphisms of the
            L-DOPA transporter LAT2/4F2hc and risk of hypertension in the
            context of chronic kidney disease
  JOURNAL   BMC Med Genomics 17 (1), 163 (2024)
   PUBMED   38890684
  REMARK    GeneRIF: Evidence for a relationship between genetic polymorphisms
            of the L-DOPA transporter LAT2/4F2hc and risk of hypertension in
            the context of chronic kidney disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4236)
  AUTHORS   Wang,F.M., Xu,L.Q., Zhang,Z.C., Guo,Q., Du,Z.P., Lei,Y., Han,X.,
            Wu,C.Y., Zhao,F. and Chen,J.L.
  TITLE     SLC7A8 overexpression inhibits the growth and metastasis of lung
            adenocarcinoma and is correlated with a dismal prognosis
  JOURNAL   Aging (Albany NY) 16 (2), 1605-1619 (2024)
   PUBMED   38244585
  REMARK    GeneRIF: SLC7A8 overexpression inhibits the growth and metastasis
            of lung adenocarcinoma and is correlated with a dismal prognosis.
REFERENCE   3  (bases 1 to 4236)
  AUTHORS   Meng,F., Wang,L., Gao,G., Chen,J., Wang,X., Wu,G. and Miu,Y.
  TITLE     Identification and verification of microRNA signature and key genes
            in the development of osteosarcoma with lung metastasis
  JOURNAL   Medicine (Baltimore) 101 (49), e32258 (2022)
   PUBMED   36626488
  REMARK    GeneRIF: Identification and verification of microRNA signature and
            key genes in the development of osteosarcoma with lung metastasis.
REFERENCE   4  (bases 1 to 4236)
  AUTHORS   Min,Q., Wang,Y., Wu,Q., Li,X., Teng,H., Fan,J., Cao,Y., Fan,P. and
            Zhan,Q.
  TITLE     Genomic and epigenomic evolution of acquired resistance to
            combination therapy in esophageal squamous cell carcinoma
  JOURNAL   JCI Insight 6 (17), e150203 (2021)
   PUBMED   34494553
  REMARK    GeneRIF: Genomic and epigenomic evolution of acquired resistance to
            combination therapy in esophageal squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4236)
  AUTHORS   Yan,R., Zhou,J., Li,Y., Lei,J. and Zhou,Q.
  TITLE     Structural insight into the substrate recognition and transport
            mechanism of the human LAT2-4F2hc complex
  JOURNAL   Cell Discov 6 (1), 82 (2020)
   PUBMED   33298890
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4236)
  AUTHORS   Broer,A., Friedrich,B., Wagner,C.A., Fillon,S., Ganapathy,V.,
            Lang,F. and Broer,S.
  TITLE     Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2
            requires different domains
  JOURNAL   Biochem J 355 (Pt 3), 725-731 (2001)
   PUBMED   11311135
REFERENCE   7  (bases 1 to 4236)
  AUTHORS   Rossier,G., Meier,C., Bauch,C., Summa,V., Sordat,B., Verrey,F. and
            Kuhn,L.C.
  TITLE     LAT2, a new basolateral 4F2hc/CD98-associated amino acid
            transporter of kidney and intestine
  JOURNAL   J Biol Chem 274 (49), 34948-34954 (1999)
   PUBMED   10574970
REFERENCE   8  (bases 1 to 4236)
  AUTHORS   Bassi,M.T., Sperandeo,M.P., Incerti,B., Bulfone,A., Pepe,A.,
            Surace,E.M., Gattuso,C., De Grandi,A., Buoninconti,A., Riboni,M.,
            Manzoni,M., Andria,G., Ballabio,A., Borsani,G. and Sebastio,G.
  TITLE     SLC7A8, a gene mapping within the lysinuric protein intolerance
            critical region, encodes a new member of the
            glycoprotein-associated amino acid transporter family
  JOURNAL   Genomics 62 (2), 297-303 (1999)
   PUBMED   10610726
REFERENCE   9  (bases 1 to 4236)
  AUTHORS   Pineda,M., Fernandez,E., Torrents,D., Estevez,R., Lopez,C.,
            Camps,M., Lloberas,J., Zorzano,A. and Palacin,M.
  TITLE     Identification of a membrane protein, LAT-2, that Co-expresses with
            4F2 heavy chain, an L-type amino acid transport activity with broad
            specificity for small and large zwitterionic amino acids
  JOURNAL   J Biol Chem 274 (28), 19738-19744 (1999)
   PUBMED   10391915
REFERENCE   10 (bases 1 to 4236)
  AUTHORS   Borsani,G., Bassi,M.T., Sperandeo,M.P., De Grandi,A.,
            Buoninconti,A., Riboni,M., Manzoni,M., Incerti,B., Pepe,A.,
            Andria,G., Ballabio,A. and Sebastio,G.
  TITLE     SLC7A7, encoding a putative permease-related protein, is mutated in
            patients with lysinuric protein intolerance
  JOURNAL   Nat Genet 21 (3), 297-301 (1999)
   PUBMED   10080183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK223610.1, AL365343.2, AK313465.1, BX248288.1, AB037669.1 and
            AF135830.1.
            
            On Nov 23, 2018 this sequence version replaced NM_012244.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: Y18483.1, AK223610.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316902.12/ ENSP00000320378.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-502               AK223610.1         1-502
            503-746             AL365343.2         6-249
            747-2354            AK313465.1         1-1608
            2355-2863           BX248288.1         1244-1752
            2864-4232           AB037669.1         2829-4197
            4233-4236           AF135830.1         2815-2818
FEATURES             Location/Qualifiers
     source          1..4236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..4236
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /note="solute carrier family 7 member 8"
                     /db_xref="GeneID:23428"
                     /db_xref="HGNC:HGNC:11066"
                     /db_xref="MIM:604235"
     exon            1..897
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             747..2354
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 7 (amino acid transporter, L-type),
                     member 8; solute carrier family 7 (cationic amino acid
                     transporter, y+ system), member 8; large neutral amino
                     acids transporter small subunit 2; integral membrane
                     protein E16H; L-type amino acid transporter 2; solute
                     carrier family 7 (amino acid transporter light chain, L
                     system), member 8"
                     /codon_start=1
                     /product="large neutral amino acids transporter small
                     subunit 2 isoform a"
                     /protein_id="NP_036376.2"
                     /db_xref="CCDS:CCDS9590.1"
                     /db_xref="GeneID:23428"
                     /db_xref="HGNC:HGNC:11066"
                     /db_xref="MIM:604235"
                     /translation="MEEGARHRNNTEKKHPGGGESDASPEAGSGGGGVALKKEIGLVS
                     ACGIIVGNIIGSGIFVSPKGVLENAGSVGLALIVWIVTGFITVVGALCYAELGVTIPK
                     SGGDYSYVKDIFGGLAGFLRLWIAVLVIYPTNQAVIALTFSNYVLQPLFPTCFPPESG
                     LRLLAAICLLLLTWVNCSSVRWATRVQDIFTAGKLLALALIIIMGIVQICKGEYFWLE
                     PKNAFENFQEPDIGLVALAFLQGSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLV
                     TFVYVFANVAYVTAMSPQELLASNAVAVTFGEKLLGVMAWIMPISVALSTFGGVNGSL
                     FTSSRLFFAGAREGHLPSVLAMIHVKRCTPIPALLFTCISTLLMLVTSDMYTLINYVG
                     FINYLFYGVTVAGQIVLRWKKPDIPRPIKINLLFPIIYLLFWAFLLVFSLWSEPVVCG
                     IGLAIMLTGVPVYFLGVYWQHKPKCFSDFIELLTLVSQKMCVVVYPEVERGSGTEEAN
                     EDMEEQQQPMYQPTPTKDKDVAGQPQP"
     exon            898..1102
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1254
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1380
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1534
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1658
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1659..1762
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1763..1859
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1860..2009
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2010..2187
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2188..4236
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4057..4062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /note="hexamer: GATAAA"
     polyA_site      4079
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /note="major polyA site"
     regulatory      4213..4218
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /note="hexamer: AATAAA"
     polyA_site      4236
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /note="major polyA site"
ORIGIN      
        1 agtgtgtgga gaagccactc tcccgaaacc agagggatgg ggccggctgt gcagtagaac
       61 ggggatcgaa aagaggaaaa caagggcacg aagaccagcg agaaagaaga ggacacctgg
      121 gaaaggcgga agcagaagac ggggaaggga aaagaaaccc aaagcaggtg gaaaccagat
      181 ctagagcaac accgtcaggt tcacagtttg tttttctaga agagaagaaa gtacctgagg
      241 attgctcttt tttcctaccg ttaatgaaaa ctacttttgt cttcatcata aaagaaaaaa
      301 ctaaggggag gtaaaggcag tctcctgttt tattaggggg agaggtgaag ggaaatccag
      361 gctcactttc tgaataagcc actgcctggt gcacagagca gaaccatcct ggtttctgaa
      421 gacacatccc tttcagcaga attccagccg gagtcgctgg cacagttcta tttttatatt
      481 taaatgtatg tctcccctgg cctttttttt tttttttttt tttagcaaca cttttcttgt
      541 ttgtaaacgc gagtgaccag aaagtgtgaa tgcggagtag gaatattttt cgtgttctct
      601 tttatctgct tgcctttttt agagagtagc agtggttcct atttcggaaa aggacgttct
      661 aattcaaagc tctctcccaa tatatttaca cgaatacgca tttagaaagg gaggcagctt
      721 ttgaggttgc aatcctactg agaaggatgg aagaaggagc caggcaccga aacaacaccg
      781 aaaagaaaca cccaggtggg ggcgagtcgg acgccagccc cgaggctggt tccggagggg
      841 gcggagtagc cctgaagaaa gagatcggat tggtcagtgc ctgtggtatc atcgtaggga
      901 acatcatcgg ctctggaatc tttgtctcgc caaagggagt gctggagaat gctggttctg
      961 tgggccttgc tctcatcgtc tggattgtga cgggcttcat cacagttgtg ggagccctct
     1021 gctatgctga actcggggtc accatcccca aatctggagg tgactactcc tatgtcaagg
     1081 acatcttcgg aggactggct gggttcctga ggctgtggat tgctgtgctg gtgatctacc
     1141 ccaccaacca ggctgtcatc gccctcacct tctccaacta cgtgctgcag ccgctcttcc
     1201 ccacctgctt ccccccagag tctggccttc ggctcctggc tgccatctgc ttattgctcc
     1261 tcacatgggt caactgttcc agtgtgcggt gggccacccg ggttcaagac atcttcacag
     1321 ctgggaagct cctggccttg gccctgatta tcatcatggg gattgtacag atatgcaaag
     1381 gagagtactt ctggctggag ccaaagaatg catttgagaa tttccaggaa cctgacatcg
     1441 gcctcgtcgc actggctttc cttcagggct cctttgccta tggaggctgg aactttctga
     1501 attacgtgac tgaggagctt gttgatccct acaagaacct tcccagagcc atcttcatct
     1561 ccatcccact ggtcacattt gtgtatgtct ttgccaatgt cgcttatgtc actgcaatgt
     1621 ccccccagga gctgctggca tccaacgccg tcgctgtgac ttttggagag aagctcctag
     1681 gagtcatggc ctggatcatg cccatttctg ttgccctgtc cacatttgga ggagttaatg
     1741 ggtctctctt cacctcctct cggctgttct tcgctggagc ccgagagggc caccttccca
     1801 gtgtgttggc catgatccac gtgaagcgct gcaccccaat cccagccctg ctcttcacat
     1861 gcatctccac cctgctgatg ctggtcacca gcgacatgta cacactcatc aactatgtgg
     1921 gcttcatcaa ctacctcttc tatggggtca cggttgctgg acagatagtc cttcgctgga
     1981 agaagcctga tatcccccgc cccatcaaga tcaacctgct gttccccatc atctacttgc
     2041 tgttctgggc cttcctgctg gtcttcagcc tgtggtcaga gccggtggtg tgtggcattg
     2101 gcctggccat catgctgaca ggagtgcctg tctatttcct gggtgtttac tggcaacaca
     2161 agcccaagtg tttcagtgac ttcattgagc tgctaaccct ggtgagccag aagatgtgtg
     2221 tggtcgtgta ccccgaggtg gagcggggct cagggacaga ggaggctaat gaggacatgg
     2281 aggagcagca gcagcccatg taccaaccca ctcccacgaa ggacaaggac gtggcggggc
     2341 agccccagcc ctgaggacca ccattccctg gctactctct ccttcctccc ccttttatcc
     2401 tacctccctg ccttggtcct gccaacacat gcgagtacac acacacccct ctctctgctt
     2461 ttgtcaggca gtggtaggac tttggtgtgg gtggtgagaa attgtaaaca aaaactgaca
     2521 ttcataccca aagaaccagc ctctcacccc agggtccatg tcccaggccc cactccagtg
     2581 ctgcccacac tcccagctgc tggaggagag gggagatgcc aaggtgccct gcaggacctc
     2641 cctccgggcc acaccctcag ctgcctcttc aggaaccgga gctcattact gccttccctc
     2701 ccagggaggc cccttcagag aggagaggcc acaggagctg cattgtgggg ggacaggctc
     2761 aagcaattct gtccccatca aggggtcagc tggagagacc caagacccta tctgttcacc
     2821 agggacccaa aatccaaggg gatgcttccc tctgccctct ttcctgcccc tccccatcat
     2881 acctgcaccc accccagcca gggctccctg tccagaattc ggttctcctc aggacgccaa
     2941 ctcccagagc taaggaccaa ggagaagaac agcctctcca cccccaagcc aggcggttga
     3001 ggaacatatt gagaaaggtt cagattgcag aaacccagcc ctgcccctgc ctcctgcatc
     3061 cagcccccaa catggtgcca aagcttccag aagccaaaaa gcttctgatt tttaaggtag
     3121 tgggcatctc tctcctaatg acgaagctgc tcagcaactc cacctgcccg ccgcaggaag
     3181 gagcagtccc ctgctatccc tgcagccact cccagcacac ccgcacacag ccagcaccac
     3241 cgcccccacc gtgcacttct cctctctggg ccttggcttg ggaccaggta cgaaggatcc
     3301 ccaagccctt caggcctgag atcagagcca gatcagcctt aagtcacctc ccatccaaga
     3361 acttggccta aaaatactcc cctatttcta accctcagga cggatctgat attaaatgcc
     3421 ttccctggga ggaagggtgc tttccccctc cctagaggtg cccattccat accctgggag
     3481 actgaggaga gcattggctg aagcccagtt cctttcccat ccatccccaa ctccaataat
     3541 cccccactcc tcgcaggtct cagtgtcatg ctgtcttggg gcagggtgaa agggtagtgg
     3601 cagcagggcg cccactctgg agatcctcaa aaaaggccct cctctgtggc tggcagcctc
     3661 tgacctttcc ctgggcttca aaggaaggct atggagtttg ctgtgggccc tgcaaccttc
     3721 ccagccactc ctgctgcact aaggacttag gatcctttta tcacaaatcg ggattctctc
     3781 ccccaccccg aattctgtct gcttaaactg gaatacacag gagcccttcc tggcctggat
     3841 ggtgtctccc agcttccccg cccagcttgc ccaccccata gttggtgaga tgccaagttt
     3901 ggtctgagtt gtgacccctt cagagtagat gcccggcagg ctggggttgg cccctggagg
     3961 gtcaggggac catcttctta ttccctcttt tctcattcct ccaacttcct cccctccttc
     4021 aattattttt ttgtaaagtt gatgccttac tttttggata aatatttttg aagctggtat
     4081 ttctatttct tttggatttt ttttaatgta aggttgtttt gggggatgga gttagaacct
     4141 taatgataat ttctttcgtt tggtgtaggt tttagagatt tgttttgtgg agaggttttt
     4201 ttcttttgat gtaataaaat ttaaaatgga aatgaa
//
