LOCUS       NM_001363118            2158 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens solute carrier family 52 member 2 (SLC52A2),
            transcript variant 5, mRNA.
ACCESSION   NM_001363118 XM_006716658
VERSION     NM_001363118.2
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 2158)
  AUTHORS   Tolomeo,M., Chimienti,G., Lanza,M., Barbaro,R., Nisco,A.,
            Latronico,T., Leone,P., Petrosillo,G., Liuzzi,G.M., Ryder,B.,
            Inbar-Feigenberg,M., Colella,M., Lezza,A.M.S., Olsen,R.K.J. and
            Barile,M.
  TITLE     Retrograde response to mitochondrial dysfunctions associated to LOF
            variations in FLAD1 exon 2: unraveling the importance of RFVT2
  JOURNAL   Free Radic Res 56 (7-8), 511-525 (2022)
   PUBMED   36480241
  REMARK    GeneRIF: Retrograde response to mitochondrial dysfunctions
            associated to LOF variations in FLAD1 exon 2: unraveling the
            importance of RFVT2.
REFERENCE   2  (bases 1 to 2158)
  AUTHORS   Console,L., Tolomeo,M., Cosco,J., Massey,K., Barile,M. and
            Indiveri,C.
  TITLE     Impact of natural mutations on the riboflavin transporter 2 and
            their relevance to human riboflavin transporter deficiency 2
  JOURNAL   IUBMB Life 74 (7), 618-628 (2022)
   PUBMED   34428344
  REMARK    GeneRIF: Impact of natural mutations on the riboflavin transporter
            2 and their relevance to human riboflavin transporter deficiency 2.
REFERENCE   3  (bases 1 to 2158)
  AUTHORS   Console,L., Tolomeo,M. and Indiveri,C.
  TITLE     Functional Study of the Human Riboflavin Transporter 2 Using
            Proteoliposomes System
  JOURNAL   Methods Mol Biol 2280, 45-54 (2021)
   PUBMED   33751428
  REMARK    GeneRIF: Functional Study of the Human Riboflavin Transporter 2
            Using Proteoliposomes System.
REFERENCE   4  (bases 1 to 2158)
  AUTHORS   Colasuonno,F., Niceforo,A., Marioli,C., Fracassi,A., Stregapede,F.,
            Massey,K., Tartaglia,M., Bertini,E., Compagnucci,C. and Moreno,S.
  TITLE     Mitochondrial and Peroxisomal Alterations Contribute to Energy
            Dysmetabolism in Riboflavin Transporter Deficiency
  JOURNAL   Oxid Med Cell Longev 2020, 6821247 (2020)
   PUBMED   32855765
  REMARK    GeneRIF: Mitochondrial and Peroxisomal Alterations Contribute to
            Energy Dysmetabolism in Riboflavin Transporter Deficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2158)
  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   6  (bases 1 to 2158)
  AUTHORS   Andriamampandry,C., Taleb,O., Kemmel,V., Humbert,J.P., Aunis,D. and
            Maitre,M.
  TITLE     Cloning and functional characterization of a gamma-hydroxybutyrate
            receptor identified in the human brain
  JOURNAL   FASEB J 21 (3), 885-895 (2007)
   PUBMED   17197387
REFERENCE   7  (bases 1 to 2158)
  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   8  (bases 1 to 2158)
  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   9  (bases 1 to 2158)
  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
REFERENCE   10 (bases 1 to 2158)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF984649.1 and BC002917.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001363118.1.
            
            Summary: This gene encodes a membrane protein which belongs to the
            riboflavin transporter family. In humans, riboflavin must be
            obtained by intestinal absorption because it cannot be synthesized
            by the body. The water-soluble vitamin riboflavin is processed to
            the coenzymes flavin mononucleotide (FMN) and flavin adenine
            dinucleotide (FAD) which then act as intermediaries in many
            cellular metabolic reactions. Paralogous members of the riboflavin
            transporter gene family are located on chromosomes 17 and 20.
            Unlike other members of this family, this gene has higher
            expression in brain tissue than small intestine. Alternative
            splicing of this gene results in multiple transcript variants
            encoding the same protein. Mutations in this gene have been
            associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal
            recessive progressive neurologic disorder characterized by
            deafness, bulbar dysfunction, and axial and limb hypotonia.
            [provided by RefSeq, Jul 2012].
            
            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 :: SRR3476690.266085.1,
                                           SRR7346977.1094332.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643944.2/ ENSP00000496184.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-598               BF984649.1         37-634
            599-2158            BC002917.2         266-1825
FEATURES             Location/Qualifiers
     source          1..2158
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2158
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /note="solute carrier family 52 member 2"
                     /db_xref="GeneID:79581"
                     /db_xref="HGNC:HGNC:30224"
                     /db_xref="MIM:607882"
     exon            1..453
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /inference="alignment:Splign:2.1.0"
     exon            454..693
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             564..1901
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /note="isoform 1 is encoded by transcript variant 5;
                     putative G-protein coupled receptor GPCR41; porcine
                     endogenous retrovirus A receptor 1; solute carrier family
                     52 (riboflavin transporter), member 2; riboflavin
                     transporter 3; PERV-A receptor 1; G protein-coupled
                     receptor 172A; solute carrier family 52, riboflavin
                     transporter, member 2; G-protein coupled receptor 41;
                     human porcine endogenous retrovirus subgroup A receptor 1"
                     /codon_start=1
                     /product="solute carrier family 52, riboflavin
                     transporter, member 2 isoform 1"
                     /protein_id="NP_001350047.1"
                     /db_xref="CCDS:CCDS6423.1"
                     /db_xref="GeneID:79581"
                     /db_xref="HGNC:HGNC:30224"
                     /db_xref="MIM:607882"
                     /translation="MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEG
                     WSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVPIRVVQVLGMVGTALLASLWHHV
                     APVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
                     LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLL
                     PPPPSVPTGELGSGLQVGAPGAEEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARS
                     ACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCR
                     SLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVA
                     ASSLLHGGGRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS"
     exon            694..1564
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1688
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..2158
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /note="hexamer: AATAAA"
     polyA_site      2158
                     /gene="SLC52A2"
                     /gene_synonym="BVVLS2; D15Ertd747e; GPCR41; GPR172A;
                     hRFT3; HuPAR-1; PAR1; RFT3; RFVT2"
                     /note="major polyA site"
ORIGIN      
        1 gagtcgggtc gtggctgctg ccgggtcctg cgcgctccgg actgaggtgg cgtccctggg
       61 ccggacggcg gtgtcccggc gtggcgggaa gccggcactg gagcgggagc gcactgggcg
      121 cgggaccggg aggcgcaggg accggacggc tcccgagtcg cccacctgac ggtaccgaga
      181 gggcggcgcc cctccgagca gagccgtccc ggccactccc ctgggatctg acttggctct
      241 tgcggtcgcg ggcaccgtga agccctgggg tgtgcgtggc tcctcctggt aggcgccctt
      301 tcccggcgtc cggcttgggg tggtggtggc gttgactcca gccccgcctc tccctggaga
      361 ggagggctcc actcgctcct tcggcctcct cccctggggc cgcagcgact cgggccggct
      421 tcctgcttcc ctgcctgccg gcggtcccgc tggctagaag aagtcttcac ttcccaggag
      481 agccaaagcg tgtctggccc taggtgggaa aagaactggc tgtgaccttt gccctgacct
      541 ggaagggccc agccttgggc tgaatggcag cacccacgcc cgcccgtccg gtgctgaccc
      601 acctgctggt ggctctcttc ggcatgggct cctgggctgc ggtcaatggg atctgggtgg
      661 agctacctgt ggtggtcaaa gagcttccag agggttggag cctcccctct tacgtctctg
      721 tgcttgtggc tctggggaac ctgggtctgc tggtggtgac cctctggagg aggctggccc
      781 caggaaagga cgagcaggtc cccatccggg tggtgcaggt gctgggcatg gtgggcacag
      841 ccctgctggc ctctctgtgg caccatgtgg ccccagtggc aggacagttg cattctgtgg
      901 ccttcttagc actggccttt gtgctggcac tggcatgctg tgcctcgaat gtcactttcc
      961 tgcccttctt gagccacctg ccacctcgct tcttacggtc attcttcctg ggtcaaggcc
     1021 tgagtgccct gctgccctgc gtgctggccc tagtgcaggg tgtgggccgc ctcgagtgcc
     1081 cgccagcccc catcaacggc acccctggcc ccccgctcga cttccttgag cgttttcccg
     1141 ccagcacctt cttctgggca ctgactgccc ttctggtcgc ttcagctgct gccttccagg
     1201 gtcttctgct gctgttgccg ccaccaccat ctgtacccac aggggagtta ggatcaggcc
     1261 tccaggtggg agccccagga gcagaggaag aggtggaaga gtcctcacca ctgcaagagc
     1321 caccaagcca ggcagcaggc accacccctg gtccagaccc taaggcctat cagcttctat
     1381 cagcccgcag tgcctgcctg ctgggcctgt tggccgccac caacgcgctg accaatggcg
     1441 tgctgcctgc cgtgcagagc ttttcctgct taccctacgg gcgtctggcc taccacctgg
     1501 ctgtggtgct gggcagtgct gccaatcccc tggcctgctt cctggccatg ggtgtgctgt
     1561 gcaggtcctt ggcagggctg ggcggcctct ctctgctggg cgtgttctgt gggggctacc
     1621 tgatggcgct ggcagtcctg agcccctgcc cgcccctggt gggcacctcg gcgggggtgg
     1681 tcctcgtggt gctgtcgtgg gtgctgtgtc ttggcgtgtt ctcctacgtg aaggtggcag
     1741 ccagctccct gctgcatggc gggggccggc cggcattgct ggcagccggc gtggccatcc
     1801 aggtgggctc tctgctcggc gctgttgcta tgttcccccc gaccagcatc tatcacgtgt
     1861 tccacagcag aaaggactgt gcagacccct gtgactcctg agcctgggca ggtggggacc
     1921 ccgctcccca acacctgtct ttccctcaat gctgccacca tgcctgagtg cctgcagccc
     1981 aggaggcccg cacaccggta cactcgtgga cacctacaca ctccatagga gatcctggct
     2041 ttccagggtg ggcaagggca aggagcaggc ttggagccag ggaccagtgg gggctgtagg
     2101 gtaagcccct gagcctggga cctacatgtg gtttgcgtaa taaaacattt gtatttaa
//
