LOCUS       NM_033409               2611 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens solute carrier family 52 member 3 (SLC52A3), mRNA.
ACCESSION   NM_033409
VERSION     NM_033409.4
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 2611)
  AUTHORS   Carey,G., Kuchcinski,G., Gauvrit,F., Defebvre,L., Nguyen,S.,
            Dhaenens,C.M., Dessein,A.F., Vianey-Saban,C., Acquaviva,C. and
            Tard,C.
  TITLE     Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel
            variants in SLC52A3 gene and MRI abnormalities
  JOURNAL   Neuromuscul Disord 31 (8), 752-755 (2021)
   PUBMED   34384672
  REMARK    GeneRIF: Three cases of adult-onset Brown-Vialetto-Van Laere
            syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.
REFERENCE   2  (bases 1 to 2611)
  AUTHORS   Long,L., Pang,X.X., Zeng,F.M., Zhan,X.H., Xie,Y.H., Pan,F.,
            Wang,W., Liao,L.D., Xu,X.E., Li,B., Wang,L.D., Chang,Z.J., Li,E.M.
            and Xu,L.Y.
  TITLE     Promotion of rs3746804 (p. L267P) polymorphism to intracellular
            SLC52A3a trafficking and riboflavin transportation in esophageal
            cancer cells
  JOURNAL   Amino Acids 53 (8), 1197-1209 (2021)
   PUBMED   34223992
  REMARK    GeneRIF: Promotion of rs3746804 (p. L267P) polymorphism to
            intracellular SLC52A3a trafficking and riboflavin transportation in
            esophageal cancer cells.
REFERENCE   3  (bases 1 to 2611)
  AUTHORS   Gayathri,S., Gowda,V.K., Udhayabanu,T., O'Callaghan,B.,
            Efthymiou,S., Varalakshmi,P., Benakappa,N., Houlden,H. and
            Ashokkumar,B.
  TITLE     Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3
            mutations with puzzling phenotypes and inheritance
  JOURNAL   Eur J Neurol 28 (3), 945-954 (2021)
   PUBMED   33325104
REFERENCE   4  (bases 1 to 2611)
  AUTHORS   Khani,M., Shamshiri,H., Taheri,H., Hardy,J., Bras,J.T., Carmona,S.,
            Moazzeni,H., Alavi,A., Heshmati,A., Taghizadeh,P., Nilipour,Y.,
            Ghazanfari,T., Shahabi,M., Okhovat,A.A., Rohani,M., Valle,G.,
            Boostani,R., Abdi,S., Eshghi,S., Nafissi,S. and Elahi,E.
  TITLE     BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B
            may be novel causative genes
  JOURNAL   Neurobiol Aging 99, 102 (2021)
   PUBMED   33189404
  REMARK    GeneRIF: BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and
            TNFSF13B may be novel causative genes.
REFERENCE   5  (bases 1 to 2611)
  AUTHORS   Fujimura,M., Yamamoto,S., Murata,T., Yasujima,T., Inoue,K.,
            Ohta,K.Y. and Yuasa,H.
  TITLE     Functional characteristics of the human ortholog of riboflavin
            transporter 2 and riboflavin-responsive expression of its rat
            ortholog in the small intestine indicate its involvement in
            riboflavin absorption
  JOURNAL   J Nutr 140 (10), 1722-1727 (2010)
   PUBMED   20724488
  REMARK    GeneRIF: results indicate that riboflavin transporter 2(RFT2) is a
            transporter involved in the epithelial uptake of riboflavin in the
            small intestine for its nutritional utilization
REFERENCE   6  (bases 1 to 2611)
  AUTHORS   Wang,L.D., Zhou,F.Y., Li,X.M., Sun,L.D., Song,X., Jin,Y., Li,J.M.,
            Kong,G.Q., Qi,H., Cui,J., Zhang,L.Q., Yang,J.Z., Li,J.L., Li,X.C.,
            Ren,J.L., Liu,Z.C., Gao,W.J., Yuan,L., Wei,W., Zhang,Y.R.,
            Wang,W.P., Sheyhidin,I., Li,F., Chen,B.P., Ren,S.W., Liu,B., Li,D.,
            Ku,J.W., Fan,Z.M., Zhou,S.L., Guo,Z.G., Zhao,X.K., Liu,N., Ai,Y.H.,
            Shen,F.F., Cui,W.Y., Song,S., Guo,T., Huang,J., Yuan,C., Huang,J.,
            Wu,Y., Yue,W.B., Feng,C.W., Li,H.L., Wang,Y., Tian,J.Y., Lu,Y.,
            Yuan,Y., Zhu,W.L., Liu,M., Fu,W.J., Yang,X., Wang,H.J., Han,S.L.,
            Chen,J., Han,M., Wang,H.Y., Zhang,P., Li,X.M., Dong,J.C.,
            Xing,G.L., Wang,R., Guo,M., Chang,Z.W., Liu,H.L., Guo,L.,
            Yuan,Z.Q., Liu,H., Lu,Q., Yang,L.Q., Zhu,F.G., Yang,X.F.,
            Feng,X.S., Wang,Z., Li,Y., Gao,S.G., Qige,Q., Bai,L.T., Yang,W.J.,
            Lei,G.Y., Shen,Z.Y., Chen,L.Q., Li,E.M., Xu,L.Y., Wu,Z.Y.,
            Cao,W.K., Wang,J.P., Bao,Z.Q., Chen,J.L., Ding,G.C., Zhuang,X.,
            Zhou,Y.F., Zheng,H.F., Zhang,Z., Zuo,X.B., Dong,Z.M., Fan,D.M.,
            He,X., Wang,J., Zhou,Q., Zhang,Q.X., Jiao,X.Y., Lian,S.Y., Ji,A.F.,
            Lu,X.M., Wang,J.S., Chang,F.B., Lu,C.D., Chen,Z.G., Miao,J.J.,
            Fan,Z.L., Lin,R.B., Liu,T.J., Wei,J.C., Kong,Q.P., Lan,Y.,
            Fan,Y.J., Gao,F.S., Wang,T.Y., Xie,D., Chen,S.Q., Yang,W.C.,
            Hong,J.Y., Wang,L., Qiu,S.L., Cai,Z.M. and Zhang,X.J.
  TITLE     Genome-wide association study of esophageal squamous cell carcinoma
            in Chinese subjects identifies susceptibility loci at PLCE1 and
            C20orf54
  JOURNAL   Nat Genet 42 (9), 759-763 (2010)
   PUBMED   20729853
  REMARK    GeneRIF: Susceptibility loci at C20orf54 for esophageal squamous
            cell carcinoma.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Nat Genet. 2014 Sep;46(9):1041]
REFERENCE   7  (bases 1 to 2611)
  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   8  (bases 1 to 2611)
  AUTHORS   Green,P., Wiseman,M., Crow,Y.J., Houlden,H., Riphagen,S., Lin,J.P.,
            Raymond,F.L., Childs,A.M., Sheridan,E., Edwards,S. and
            Josifova,D.J.
  TITLE     Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with
            deafness, is caused by mutations in c20orf54
  JOURNAL   Am J Hum Genet 86 (3), 485-489 (2010)
   PUBMED   20206331
  REMARK    GeneRIF: identified a candidate gene, C20orf54, in a consanguineous
            family with Brown-Vialetto-Van Laere syndrome with multiple
            affected individuals and subsequently demonstrated that mutations
            in this gene were the cause of disease in other, unrelated families
REFERENCE   9  (bases 1 to 2611)
  AUTHORS   Yamamoto,S., Inoue,K., Ohta,K.Y., Fukatsu,R., Maeda,J.Y.,
            Yoshida,Y. and Yuasa,H.
  TITLE     Identification and functional characterization of rat riboflavin
            transporter 2
  JOURNAL   J Biochem 145 (4), 437-443 (2009)
   PUBMED   19122205
  REMARK    GeneRIF: Discusses cloning of rat riboflavin transporter 2 and
            identification of a comparable protein in human.
REFERENCE   10 (bases 1 to 2611)
  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 DA302552.1, DA358731.1,
            AK074650.1, BC009750.2 and AI244952.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_033409.3.
            
            Summary: This gene encodes a riboflavin transporter protein that is
            strongly expressed in the intestine and likely plays a role in
            intestinal absorption of riboflavin. The protein is predicted to
            have eleven transmembrane domains and a cell surface localization
            signal in the C-terminus. Mutations at this locus have been
            associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe
            disease. [provided by RefSeq, Mar 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 :: KY978478.1, SRR1660809.38062.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645534.1/ ENSP00000494193.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               DA302552.1         85-190
            107-241             DA358731.1         107-241
            242-850             AK074650.1         226-834
            851-1054            BC009750.2         838-1041
            1055-1162           AK074650.1         1039-1146
            1163-1487           BC009750.2         1150-1474
            1488-1680           AK074650.1         1934-2126
            1681-2415           BC009750.2         1668-2402
            2416-2416           AI244952.1         205-205             c
            2417-2611           BC009750.2         2404-2598
FEATURES             Location/Qualifiers
     source          1..2611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2611
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /note="solute carrier family 52 member 3"
                     /db_xref="GeneID:113278"
                     /db_xref="HGNC:HGNC:16187"
                     /db_xref="MIM:613350"
     exon            1..204
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /inference="alignment:Splign:2.1.0"
     exon            205..822
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..1665
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /note="riboflavin transporter 2; solute carrier family 52
                     (riboflavin transporter), member 3; SLC52A3a; SLC52A3b"
                     /codon_start=1
                     /product="solute carrier family 52, riboflavin
                     transporter, member 3"
                     /protein_id="NP_212134.3"
                     /db_xref="CCDS:CCDS13007.1"
                     /db_xref="GeneID:113278"
                     /db_xref="HGNC:HGNC:16187"
                     /db_xref="MIM:613350"
                     /translation="MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYL
                     TVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLGVGTVTCIIFAFLWNMTSWVLDG
                     HHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
                     SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHF
                     SPLVFFLLLSIMMACCLVAFFVLQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPA
                     GTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPSVQTYSCLSYGPVAY
                     HLAATLSIVANPLASLVSMFLPNRSLLFLGVLSVLGTCFGGYNMAMAVMSPCPLLQGH
                     WGGEVLIVASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPL
                     VNVLRLFSSADFCNLHCPA"
     exon            823..1328
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1452
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..2611
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2589..2594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /note="hexamer: AATAAA"
     polyA_site      2611
                     /gene="SLC52A3"
                     /gene_synonym="bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2;
                     RFT2; RFVT3"
                     /note="major polyA site"
ORIGIN      
        1 actcctgctt tgtactagaa ggaagaagta tggagttaaa gactgcagcg tgaactgagg
       61 agtcccggac aggccgcttg ctgcagagga tccagtccag atcccaggag agcccctctg
      121 ccccttcgga cctcgtctcc catctacaaa acgtgaagat tggcccagtt agcgtgtctc
      181 tacaaaaagg tgcatatacc actgccccgc tgcaggctga tctgagaaag cctctggccc
      241 agggcagata ccgccatggc cttcctgatg cacctgctgg tctgcgtctt cggaatgggc
      301 tcctgggtga ccatcaatgg gctctgggta gagctgcccc tgctggtgat ggagctgccc
      361 gagggctggt acctgccctc ctacctcacg gtggtcatcc agctggccaa catcgggccc
      421 ctcctggtca ccctgctcca tcacttccgg cccagctgcc tttccgaagt gcccatcatc
      481 ttcaccctgc tgggcgtggg aaccgtcacc tgcatcatct ttgccttcct ctggaatatg
      541 acctcctggg tgctggacgg ccaccacagc atcgccttct tggtcctcac cttcttcctg
      601 gccctggtgg actgcacctc ttcagtgacc ttcctgccgt tcatgagccg gctgcccacc
      661 tactacctca ccaccttctt tgtgggtgaa ggactcagcg gcctcttgcc cgccctggtg
      721 gctcttgccc agggctccgg tctcactacc tgcgtcaatg tcactgagat atcagacagc
      781 gtaccaagcc ctgtacccac gagggagact gacatcgcac agggagttcc cagagctttg
      841 gtgtccgccc tccccggaat ggaagcaccc ttgtcccacc tggagagccg ctaccttccc
      901 gcccacttct cacccctggt cttcttcctc ctcctatcca tcatgatggc ctgctgcctc
      961 gtggcgttct ttgtcctcca gcgtcaaccc aggtgctggg aggcttccgt ggaagacctc
     1021 ctcaatgacc aggtcaccct ccactccatc cggccgcggg aagagaatga cttgggccct
     1081 gcaggcacgg tggacagcag ccagggccag gggtatctag aggagaaagc agccccctgc
     1141 tgcccggcgc acctggcctt catctatacc ctggtggcct tcgtcaacgc gctcaccaac
     1201 ggcatgctgc cctctgtgca gacctactcc tgcctgtcct atgggccagt tgcctaccac
     1261 ctggctgcca ccctcagcat tgtggccaac cctcttgcct cgttggtctc catgttcctg
     1321 cctaacaggt ctctgctgtt cctgggggtc ctctccgtgc ttgggacctg ctttgggggc
     1381 tacaacatgg ccatggcggt gatgagcccc tgccccctct tgcagggcca ctggggtggg
     1441 gaagtcctca ttgtggcctc gtgggtgctt ttcagcggct gcctcagtta cgtcaaggtg
     1501 atgctgggcg tggtcctgcg cgacctcagc cgcagcgccc tcttgtggtg cggggcggcg
     1561 gtgcagctgg gctcgctgct cggagcgctg ctcatgttcc ctctggtcaa cgtgctgcgg
     1621 ctcttctcgt ccgcggactt ctgcaatctg cactgtccag cctaggcagg ccgccgaccc
     1681 cgcccccatc gctcacggac ggaactgggg tccagagagg ccaggtcaca gagcaagggg
     1741 caggaacaga gagacagagc ctgagtaatt gaatcatgaa cgcaagtgcc cactggggac
     1801 tgtggggaag atggcacctg gaaatgcaag gtgcggctct atccccaact ctgtgtcaca
     1861 ctacctgtga cgaccagctc agatctcctt tgctttgact ctcaagagag gactgatttg
     1921 cagcatctag ctggaggcag gcccaagggt gttagaaggg aaacagctgg gacagccggc
     1981 tgtcccttca ggctgtgtga ccttgggaaa gtcatttggc ttctctgtgc ctgtttcttc
     2041 atgcatgcag tggggattcc agtaagtacc aactacctca caggcatggc acggaggcaa
     2101 aaggaaaaag cagcccgcat caagcaagcc ctcctgggcc acctgctgat ctgacagtcc
     2161 atcgtagtaa caagagtggc agtctgcaca acctagaagt ggccagaagg gttgagacac
     2221 gcccctgccc tctctccttt gcccctcagt ctcacagagg ggcttctaca agacaagcag
     2281 ataacgatag aatcttgggc atcttggctt tcggattctc agtgtggagg gacgtagtac
     2341 cccacacacc ccttcctgtc atccttcctg gcccataaag cccactagtt ggagagtaag
     2401 taccctcctg gaagccggga gagatgattt gctggtgggg ctggggaagg cccatccctg
     2461 agcctctgaa agtgaactcc ccgaccaggt tggggaccag acatgcagag cccctggaag
     2521 tattctctca aatggaggca acagaggtga ttgttatttt gttttagttt ctgtttttca
     2581 tttttttaaa taaaggcatt ccctgctttt a
//
