LOCUS       NM_017986               2375 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 52 member 1 (SLC52A1),
            transcript variant 2, mRNA.
ACCESSION   NM_017986
VERSION     NM_017986.4
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 2375)
  AUTHORS   Grunert,S.C., Ziagaki,A., Heinen,A., Schumann,A., Tucci,S.,
            Spiekerkoetter,U. and Schmidts,M.
  TITLE     Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and
            Expansion of the Phenotypic Spectrum
  JOURNAL   Genes (Basel) 14 (7), 1408 (2023)
   PUBMED   37510312
  REMARK    GeneRIF: Riboflavin 1 Transporter Deficiency: Novel SLC52A1
            Variants and Expansion of the Phenotypic Spectrum.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2375)
  AUTHORS   van den Berg,F.F., Issa,Y., Vreijling,J.P., Lerch,M.M., Weiss,F.U.,
            Besselink,M.G., Baas,F., Boermeester,M.A. and van Santvoort,H.C.
  CONSRTM   Dutch Pancreatitis Study Group
  TITLE     Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as
            Novel Genetic Risk Factors for (Early) Multiple-organ Failure in
            Acute Pancreatitis
  JOURNAL   Ann Surg 275 (6), e781-e788 (2022)
   PUBMED   33427755
  REMARK    GeneRIF: Whole-exome Sequencing Identifies SLC52A1 and ZNF106
            Variants as Novel Genetic Risk Factors for (Early) Multiple-organ
            Failure in Acute Pancreatitis.
REFERENCE   3  (bases 1 to 2375)
  AUTHORS   Nagano,T., Awai,Y., Kuwaba,S., Osumi,T., Mio,K., Iwasaki,T. and
            Kamada,S.
  TITLE     Riboflavin transporter SLC52A1, a target of p53, suppresses
            cellular senescence by activating mitochondrial complex II
  JOURNAL   Mol Biol Cell 32 (21), br10 (2021)
   PUBMED   34524871
  REMARK    GeneRIF: Riboflavin transporter SLC52A1, a target of p53,
            suppresses cellular senescence by activating mitochondrial complex
            II.
REFERENCE   4  (bases 1 to 2375)
  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   5  (bases 1 to 2375)
  AUTHORS   Anandam,K.Y., Alwan,O.A., Subramanian,V.S., Srinivasan,P.,
            Kapadia,R. and Said,H.M.
  TITLE     Effect of the proinflammatory cytokine TNF-alpha on intestinal
            riboflavin uptake: inhibition mediated via transcriptional
            mechanism(s)
  JOURNAL   Am J Physiol Cell Physiol 315 (5), C653-C663 (2018)
   PUBMED   30156861
  REMARK    GeneRIF: In the in vitro model, exposing Caco-2 cells to tumor
            necrosis factor-alpha (TNF-alpha) led to a significant inhibition
            in RF uptake, an effect that was abrogated upon knocking down TNF
            receptor 1 (TNFR1). The inhibition in RF uptake was associated with
            a significant reduction in the expression of hRFVT-3 and -1 protein
            and mRNA levels, as well as in the activity of the SLC52A3 and
            SLC52A1 promoters
REFERENCE   6  (bases 1 to 2375)
  AUTHORS   Yao,Y., Yonezawa,A., Yoshimatsu,H., Masuda,S., Katsura,T. and
            Inui,K.
  TITLE     Identification and comparative functional characterization of a new
            human riboflavin transporter hRFT3 expressed in the brain
  JOURNAL   J Nutr 140 (7), 1220-1226 (2010)
   PUBMED   20463145
REFERENCE   7  (bases 1 to 2375)
  AUTHORS   Yonezawa,A., Masuda,S., Katsura,T. and Inui,K.
  TITLE     Identification and functional characterization of a novel human and
            rat riboflavin transporter, RFT1
  JOURNAL   Am J Physiol Cell Physiol 295 (3), C632-C641 (2008)
   PUBMED   18632736
  REMARK    GeneRIF: Identification/characterization riboflavin trasporter
            (RFT1) as a novel riboflavin transporter.
REFERENCE   8  (bases 1 to 2375)
  AUTHORS   Ericsson,T.A., Takeuchi,Y., Templin,C., Quinn,G., Farhadian,S.F.,
            Wood,J.C., Oldmixon,B.A., Suling,K.M., Ishii,J.K., Kitagawa,Y.,
            Miyazawa,T., Salomon,D.R., Weiss,R.A. and Patience,C.
  TITLE     Identification of receptors for pig endogenous retrovirus
  JOURNAL   Proc Natl Acad Sci U S A 100 (11), 6759-6764 (2003)
   PUBMED   12740431
REFERENCE   9  (bases 1 to 2375)
  AUTHORS   Takeda,S., Kadowaki,S., Haga,T., Takaesu,H. and Mitaku,S.
  TITLE     Identification of G protein-coupled receptor genes from the human
            genome sequence
  JOURNAL   FEBS Lett 520 (1-3), 97-101 (2002)
   PUBMED   12044878
  REMARK    Erratum:[FEBS Lett 2002 Jul 17;523(1-3):257]
REFERENCE   10 (bases 1 to 2375)
  AUTHORS   Cali,E., Dominik,N., Manole,A. and Houlden,H.
  TITLE     Riboflavin Transporter Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26072523
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA383729.1, AK000922.1,
            AY070775.1, BC092473.1 and BU752646.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017986.3.
            
            Summary: Biological redox reactions require electron donors and
            acceptor. Vitamin B2 is the source for the flavin in flavin adenine
            dinucleotide (FAD) and flavin mononucleotide (FMN) which are common
            redox reagents. This gene encodes a member of the riboflavin
            (vitamin B2) transporter family. Haploinsufficiency of this protein
            can cause maternal riboflavin deficiency. Multiple alternatively
            spliced variants, encoding the same protein, have been identified.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: BC060810.1, AK000922.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254853.10/ ENSP00000254853.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-401               DA383729.1         7-407
            402-881             AK000922.1         1-480
            882-2020            AY070775.1         209-1347
            2021-2373           BC092473.1         1579-1931
            2374-2375           BU752646.1         15-16               c
FEATURES             Location/Qualifiers
     source          1..2375
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2375
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /note="solute carrier family 52 member 1"
                     /db_xref="GeneID:55065"
                     /db_xref="HGNC:HGNC:30225"
                     /db_xref="MIM:607883"
     exon            1..566
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /inference="alignment:Splign:2.1.0"
     exon            567..803
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             674..2020
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /note="porcine endogenous retrovirus A receptor 2;
                     G-protein coupled receptor GPCR42; PERV-A receptor 2; G
                     protein-coupled receptor 172B; solute carrier family 52
                     (riboflavin transporter), member 1; solute carrier family
                     52, riboflavin transporter, member 1"
                     /codon_start=1
                     /product="solute carrier family 52, riboflavin
                     transporter, member 1 precursor"
                     /protein_id="NP_060456.3"
                     /db_xref="CCDS:CCDS11066.1"
                     /db_xref="GeneID:55065"
                     /db_xref="HGNC:HGNC:30225"
                     /db_xref="MIM:607883"
                     /translation="MAAPTLGRLVLTHLLVALFGMGSWAAVNGIWVELPVVVKDLPEG
                     WSLPSYLSVVVALGNLGLLVVTLWRQLAPGKGEQVPIQVVQVLSVVGTALLAPLWHHV
                     APVAGQLHSVAFLTLALVLAMACCTSNVTFLPFLSHLPPPFLRSFFLGQGLSALLPCV
                     LALVQGVGRLECPPAPTNGTSGPPLDFPERFPASTFFWALTALLVTSAAAFRGLLLLL
                     PSLPSVTTGGSGPELQLGSPGAEEEEKEEEEALPLQEPPSQAAGTIPGPDPEAHQLFS
                     AHGAFLLGLMAFTSAVTNGVLPSVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGV
                     LCRSLAGLVGLSLLGMLFGAYLMALAILSPCPPLVGTTAGVVLVVLSWVLCLCVFSYV
                     KVAASSLLHGGGRPALLAAGVAIQVGSLLGAGAMFPPTSIYHVFQSRKDCVDPCGP"
     exon            804..1683
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1807
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..2375
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2328..2333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /note="hexamer: AATATA"
     polyA_site      2349
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /note="major polyA site"
     regulatory      2354..2359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /note="hexamer: ATTAAA"
     polyA_site      2375
                     /gene="SLC52A1"
                     /gene_synonym="GPCR42; GPR172B; hRFT1; huPAR-2; PAR2;
                     RBFVD; RFT1; RFVT1"
                     /note="major polyA site"
ORIGIN      
        1 gcaaaagcgc tagggttgca agtggcacca gagacgtgcc cttgtcccgg ggtccatttg
       61 agggtgagcg tgttggtgcc gagctgtttt tttgttttgt tttgttttgt tttgtttttg
      121 agaccgaatc tcgttctgtc gcccaggctg gaatgcagtg gtgtgatctt ggctcactgc
      181 aacctccacc ttccgggttc aagtgaatct cctgcctcag cctcctgagt agctgggatt
      241 actggcaccc accaccacga ccagctaatt tttgtatttt tagtagagac gggttttcac
      301 catgttggcc aggatggtct caatctcctg acctcaggcg atctgccttc ctcagcttcc
      361 caaagtgctg ggattacagg tgtgagccac cgcacccggc cagtgctgag ctgttttgac
      421 aacttggacc ccgggtcctc tgtgggtagg aaaatcagct ccctctttgc tcctctgggg
      481 cagctgcacc tcgggccagc tttctgcctg tctgcctgcc ggcactgctg ggtcgctgta
      541 cccaaacgca cagccggtgc cccgtgctag aaggtcttca gtttccagaa gaaccaaagc
      601 atctttggac ctacctaggg aaggacctgc ctgtgacctt tgccctgtcc tggagggtcc
      661 agctttgggc tgaatggcag cacccacgct gggccgtctg gtgctgaccc acctgctggt
      721 ggcccttttt ggcatgggct cctgggctgc tgtgaacggg atctgggtgg agctgcctgt
      781 ggtggtaaaa gaccttccag agggttggag cctcccctca tacctctctg tggttgtggc
      841 gctgggaaac ctgggtctgc tggtggtgac cctgtggagg cagctggccc cgggcaaggg
      901 cgagcaggtc cccatccagg tggtacaggt gctgagtgta gtgggcacag ccctgctggc
      961 ccctctgtgg caccacgtgg ccccagtggc agggcagctc cactctgtgg ccttcctaac
     1021 tctggccttg gtgttggcaa tggcctgttg tacctctaat gtcactttcc tgcccttcct
     1081 gagccacctg ccacctcctt tcttacggtc tttcttcctg ggtcagggtc tcagtgccct
     1141 actcccctgt gtgctggccc tagtgcaagg tgtgggccgc ctcgagtgcc caccagcgcc
     1201 caccaatggc acctctgggc ctcccctcga cttccctgag cgttttcctg ccagcacctt
     1261 cttctgggca ctgactgccc ttctggtcac ttcagctgcc gccttccggg gtctcctgtt
     1321 gctgttgcca tcactaccct ctgtaaccac agggggctca gggcctgaac ttcaactggg
     1381 atccccagga gcagaggagg aagagaagga ggaagaagag gctttgccat tgcaggagcc
     1441 accgagccag gcagcaggca ccatccctgg cccagaccct gaggcccatc agctgttctc
     1501 agcccatggt gccttcctgc tgggcctgat ggccttcacc agtgccgtga ccaatggcgt
     1561 gctgccttct gtgcagagct tttcctgttt gccctatggg cgcctggcct accacctggc
     1621 tgtggtgctg ggcagtgccg ccaaccccct tgcctgcttc ctggccatgg gcgtgctgtg
     1681 caggtccctg gcagggctgg ttggtctttc tctgctgggc atgctctttg gggcctacct
     1741 gatggcactg gcaatcctga gcccctgccc acccctggtg ggcaccactg caggggtggt
     1801 ccttgtggtg ctgtcgtggg tgctgtgtct gtgtgtgttc tcatatgtga aggtggctgc
     1861 aagctccctg ctgcatggtg ggggtcggcc ggcattgctg gcagctggtg tggccatcca
     1921 agtgggctcc ctgcttggtg ccggtgccat gttccctccc accagcatct accacgtgtt
     1981 tcaaagcaga aaggactgtg tagacccctg tggcccctga gcctgggcag gtggggaccc
     2041 aactccaccc cacctgtctt catcgtgagg ctgccacagt gcctgactac ttgtggccca
     2101 ggcaggcttc ccccaacaca ggaacgctca tggacacctg cacactccac agaagacgtt
     2161 ggcatgtgag gccagggtgg gcaccaaaga ccaggcccag agccagggga caggttgggg
     2221 ctgtgggctt ggacccaggg cctgagacct ttgtgggatt tgtgcaataa agtgttttta
     2281 tttaaaacca aaaacaaaaa caaaagccta atgaaaacct tataagaaat atataatgaa
     2341 atcaggaaac tggattaaat aatttttcat acata
//
