LOCUS       NM_032839               3322 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens solute carrier family 49 member 4 (SLC49A4), mRNA.
ACCESSION   NM_032839
VERSION     NM_032839.3
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 3322)
  AUTHORS   Akino,S., Yasujima,T., Yamashiro,T. and Yuasa,H.
  TITLE     Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an H+-driven
            lysosomal pyridoxine exporter
  JOURNAL   Life Sci Alliance 6 (2), e202201629 (2022)
   PUBMED   36456177
  REMARK    GeneRIF: Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an
            H[+]-driven lysosomal pyridoxine exporter.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3322)
  AUTHORS   Savalas,L.R., Gasnier,B., Damme,M., Lubke,T., Wrocklage,C.,
            Debacker,C., Jezegou,A., Reinheckel,T., Hasilik,A., Saftig,P. and
            Schroder,B.
  TITLE     Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the
            lysosomal membrane, is proteolytically processed by cathepsin L
  JOURNAL   Biochem J 439 (1), 113-128 (2011)
   PUBMED   21692750
  REMARK    GeneRIF: Data strongly support the idea that DIRC2 is an
            electrogenic lysosomal metabolite transporter which is subjected to
            and presumably modulated by limited proteolytic processing.
REFERENCE   3  (bases 1 to 3322)
  AUTHORS   Bodmer,D., Janssen,I., Jonkers,Y., van den Berg,E., Dijkhuizen,T.,
            Debiec-Rychter,M., Schoenmakers,E. and van Kessel,A.G.
  TITLE     Molecular cytogenetic analysis of clustered sporadic and familial
            renal cell carcinoma-associated 3q13 approximately q22 breakpoints
  JOURNAL   Cancer Genet Cytogenet 136 (2), 95-100 (2002)
   PUBMED   12237231
REFERENCE   4  (bases 1 to 3322)
  AUTHORS   Bodmer,D., Eleveld,M., Kater-Baats,E., Janssen,I., Janssen,B.,
            Weterman,M., Schoenmakers,E., Nickerson,M., Linehan,M., Zbar,B. and
            van Kessel,A.G.
  TITLE     Disruption of a novel MFS transporter gene, DIRC2, by a familial
            renal cell carcinoma-associated t(2;3)(q35;q21)
  JOURNAL   Hum Mol Genet 11 (6), 641-649 (2002)
   PUBMED   11912179
  REMARK    GeneRIF: Gene disruption may result in haplo-insufficiency and,
            through this mechanism, in the onset of tumor growth.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048348.25 and AC078794.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032839.2.
            
            Summary: This gene encodes a membrane-bound protein from the major
            facilitator superfamily of transporters. Disruption of this gene by
            translocation has been associated with haplo-insufficiency and
            renal cell carcinomas. Alternatively spliced transcript variants
            have been described, but their biological validity has not yet been
            determined. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence and transcripts to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.197826.1,
                                           SRR1803612.196679.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261038.6/ ENSP00000261038.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-467               AC048348.25        3545-4011           c
            468-561             AC078794.13        144791-144884       c
            562-827             AC078794.13        124676-124941       c
            828-957             AC078794.13        118295-118424       c
            958-1066            AC078794.13        105870-105978       c
            1067-1134           AC078794.13        95367-95434         c
            1135-1262           AC078794.13        91539-91666         c
            1263-1445           AC078794.13        79144-79326         c
            1446-3322           AC078794.13        70602-72478         c
FEATURES             Location/Qualifiers
     source          1..3322
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     gene            1..3322
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="solute carrier family 49 member 4"
                     /db_xref="GeneID:84925"
                     /db_xref="HGNC:HGNC:16628"
                     /db_xref="MIM:602773"
     exon            1..467
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..1561
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="disrupted in renal cancer protein 2; renal cell
                     carcinoma 4; disrupted in renal carcinoma 2"
                     /codon_start=1
                     /product="solute carrier family 49 member 4"
                     /protein_id="NP_116228.1"
                     /db_xref="CCDS:CCDS3018.1"
                     /db_xref="GeneID:84925"
                     /db_xref="HGNC:HGNC:16628"
                     /db_xref="MIM:602773"
                     /translation="MGSRWSSEEERQPLLGPGLGPGLGASWRSREAAAAALPAAVPGP
                     GRVYGRRWLVLLLFSLLAFVQGLVWNTWGPIQNSARQAYGFSSWDIALLVLWGPIGFL
                     PCFAFMWLLDKRGLRITVLLTSFLMVLGTGLRCIPISDLILKRRLIHGGQMLNGLAGP
                     TVMNAAPFLSTTWFSADERATATAIASMLSYLGGACAFLVGPLVVPAPNGTSPLLAAE
                     SSRAHIKDRIEAVLYAEFGVVCLIFSATLAYFPPRPPLPPSVAAASQRLSYRRSVCRL
                     LSNFRFLMIALAYAIPLGVFAGWSGVLDLILTPAHVSQVDAGWIGFWSIVGGCVVGIA
                     MARFADFIRGMLKLILLLLFSGATLSSTWFTLTCLNSITHLPLTTVTLYASCILLGVF
                     LNSSVPIFFELFVETVYPVPEGITCGVVTFLSNMFMGVLLFFLTFYHTELSWFNWCLP
                     GSCLLSLLLILCFRESYDRLYLDVVVSV"
     exon            468..561
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            562..827
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            828..957
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1066
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1134
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1262
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1445
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..3322
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2077..2082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="hexamer: AATAAA"
     polyA_site      2098
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="major polyA site"
     regulatory      2286..2291
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="hexamer: ATTAAA"
     polyA_site      2311
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
     regulatory      2467..2472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="hexamer: AATAAT"
     polyA_site      2492
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
     regulatory      3301..3306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
                     /note="hexamer: AATAAA"
     polyA_site      3322
                     /gene="SLC49A4"
                     /gene_synonym="DIRC2; RCC4"
ORIGIN      
        1 ggtccggagg ccgagggcga ccacagcagc ctccgcctcc tgctgctcag gactattctg
       61 cgctgggcta gtcggcggtg acccggactg cgcccggcag tggcttcgcg ggcgacgcgt
      121 cgccatgggc tctcgctgga gcagcgaaga ggagaggcag ccgctgctgg ggcccgggct
      181 cgggcctggg ctgggggcct cctggagaag ccgggaggcg gcggcggcgg cgctgcccgc
      241 ggcggtcccg ggtcccgggc gggtatacgg gcgccgctgg ctggtgctgc tgctcttctc
      301 gctgctggcg ttcgttcagg gcctggtctg gaacacctgg ggtcccatcc agaactcggc
      361 gcgccaggcc tacggcttct ccagctggga catcgcgctg ctcgtgctgt gggggcccat
      421 cggcttcctg ccctgcttcg cgttcatgtg gctcctggac aagagaggtc tccggataac
      481 tgtgctcctg acatccttcc ttatggtttt gggaactggt ctaagatgca tacctatatc
      541 agacttaatc cttaaaagaa gattaattca tggaggacag atgttaaatg gattggcagg
      601 tccaactgta atgaatgcag caccatttct ctctacgacg tggttttctg cagatgaaag
      661 ggccacagcc acagctattg catcaatgct cagttatctt gggggagcat gtgcattttt
      721 agttggacca cttgttgttc cagctcccaa tgggacatca cctcttcttg ctgcagagag
      781 cagcagggcg catattaaag atcgcataga ggctgtgtta tatgcagaat ttggagttgt
      841 ctgcttaata ttttctgcaa cactagctta tttcccaccc cgacctcctc ttcctcccag
      901 tgttgctgca gctagccagc ggctgagtta tcggagaagc gtttgtagat tattaagcaa
      961 ttttcgattt ttgatgattg ctttagcata tgccatacca cttggtgtat ttgctggctg
     1021 gtctggagtt ctggacttaa ttttaacacc agcgcatgtc agccaagtag atgctggctg
     1081 gattggattt tggtccatag ttggaggctg tgttgttgga atagctatgg caaggtttgc
     1141 agattttatc aggggtatgc tgaaactaat tcttctcctc ctgttttcgg gagctacact
     1201 gtcatccacg tggttcaccc tgacctgttt gaacagcatc acacacctac ctttaaccac
     1261 agtgacattg tatgcctcct gtattctcct gggagtgttc ttgaatagca gcgtgcctat
     1321 attttttgag ctttttgtgg aaactgtcta cccagttcca gaaggaatta cttgtggagt
     1381 tgtcactttt ttaagtaata tgtttatggg agtactttta ttttttctca cattttatca
     1441 tacagagttg tcttggttca actggtgcct tcccgggtcg tgtttgctca gtctcctcct
     1501 cattctgtgc ttcagggaat cctatgacag actctatctt gatgtggttg tctccgttta
     1561 atagcacaga cttgaaggag tttaaaagga ggctggaaat caatactgca cactgcacat
     1621 ttgctcagaa ttgcacatct aacaggaaaa gagggagaag aaagaaactt cattcagagg
     1681 ttttgttagg ttacagatta tcacattaat ttaattacta ctaggtaata ataatgggag
     1741 acttgagtga taatagggga ttttaaaact ctacagatgg catacctgtg cctgcttctg
     1801 gggttggaag tgtgacttct tacacataaa gcactaccta agtaattctc tctctgtttt
     1861 gtgccagtgc taaactactg attacttgta attatgaaaa gaaataaagg gtgtctatca
     1921 tatgaagata acgccttccc taagtcacat atcagaatag gaagatatgc cactaacttc
     1981 taaagaagtt caaaccctgt atccaatttt aatgataaaa tagccaagag gtatatcgat
     2041 gatggaaatt agccacatgt acactacatt ttttctaata aagccatttc ttatatgact
     2101 ccttatttta atcaggtcag aagcccttgg ccatctttac tatggtgatc aggtgctttc
     2161 cagtgacttc tgagcatagg cactgtgtct ccatctcaac ttatccttgt ttctgtgaaa
     2221 tacaatttca tctactaggc ccttaaataa ttatgtgagg gtgtctaaat gtttaatatg
     2281 attacattaa atattgtatg aaaaaatgta attccattag gatctagcac tttgttacaa
     2341 gtgaaatgac aagtcacatg gacatactgt gtcttctgcc tgtatatggt ggcatgagat
     2401 gtaatgtcca gagccaacaa ttatttacca gggttagatt ttattcagtg acccttgttt
     2461 aaaaataata atttatcaca ttgaaacttt cagctctgtc gaatgatttc tgaattacat
     2521 cctgtgtttc agcttaggtt gtaaaatact ccgttctctg tggagtcagc atatttgaga
     2581 gggcagcgtt ttgccagtac ctatcttctt tctacagaag atagcttttt aagaaataag
     2641 agttccacat tgagtggctg tcagacacag atttcactgt gacgtaaaat acactgcagt
     2701 gagaatatgg tatcaccact attcatattt acatcattcc cctcacacag aaaaaccaac
     2761 ccttttccca aaaagtcaag aatactgcta tacctttatt attctcagct tcctccagcc
     2821 cttcttgttt ttcctcactt gaaattgaac cttcattgtc agctaagtat atatactttt
     2881 gtgttttcct ggacagagtg caagtggctc ttatcagcca aggtggtgaa ggttcaggaa
     2941 agctgggcag cactgggccc tgctcctctc tgcacctgtg tgcgccatga cacacccaca
     3001 tgcagattcc caagtctgtc tcccctcccc cttagcaagt acaaggctgt gcattaactc
     3061 acctcggtcc tagaggagta tcctagtact gcttggcaac ttctaagacc ctaacttgtg
     3121 aaactaggga agtaagaaac cgttcaaatt taacatctgt cttcagtcat ctttaaatcg
     3181 tctctcttta taaacactct gctcacttag cagaaggact gaaggaacta aggaacttgc
     3241 taaagagaag aagaaaacaa aagctagact tagttccagt taattctgtt attcttctga
     3301 aataaaaatg aaataaaagg aa
//
