LOCUS       NM_138431               1552 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens major facilitator superfamily domain containing 3
            (MFSD3), transcript variant 1, mRNA.
ACCESSION   NM_138431
VERSION     NM_138431.3
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 1552)
  AUTHORS   Shigemizu,D., Asanomi,Y., Akiyama,S., Higaki,S., Sakurai,T.,
            Ito,K., Niida,S. and Ozaki,K.
  TITLE     Network-based meta-analysis and the candidate gene association
            studies reveal novel ethnicity-specific variants in MFSD3 and
            MRPL43 associated with dementia with Lewy bodies
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 189 (5), 139-150 (2022)
   PUBMED   35765761
  REMARK    GeneRIF: Network-based meta-analysis and the candidate gene
            association studies reveal novel ethnicity-specific variants in
            MFSD3 and MRPL43 associated with dementia with Lewy bodies.
REFERENCE   2  (bases 1 to 1552)
  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   3  (bases 1 to 1552)
  AUTHORS   Nicoletti,C.F., Pinhel,M.S., Noronha,N.Y., Jacome,A.,
            Crujeiras,A.B. and Nonino,C.B.
  TITLE     Association of MFSD3 promoter methylation level and weight regain
            after gastric bypass: Assessment for 3 y after surgery
  JOURNAL   Nutrition 70, 110499 (2020)
   PUBMED   31655468
  REMARK    GeneRIF: Association of MFSD3 promoter methylation level and weight
            regain after gastric bypass: Assessment for 3 y after surgery.
REFERENCE   4  (bases 1 to 1552)
  AUTHORS   Perland,E., Hellsten,S.V., Lekholm,E., Eriksson,M.M., Arapi,V. and
            Fredriksson,R.
  TITLE     The Novel Membrane-Bound Proteins MFSD1 and MFSD3 are Putative SLC
            Transporters Affected by Altered Nutrient Intake
  JOURNAL   J Mol Neurosci 61 (2), 199-214 (2017)
   PUBMED   27981419
REFERENCE   5  (bases 1 to 1552)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112.. PMID: 25572966]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB455059.1, BC011982.1 and DB520468.1.
            
            On Nov 23, 2018 this sequence version replaced NM_138431.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.149467.1,
                                           SRR3476690.382495.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301327.5/ ENSP00000301327.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-99                DB455059.1         35-133
            100-1499            BC011982.1         1-1400
            1500-1552           DB520468.1         388-440
FEATURES             Location/Qualifiers
     source          1..1552
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1552
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /note="major facilitator superfamily domain containing 3"
                     /db_xref="GeneID:113655"
                     /db_xref="HGNC:HGNC:25157"
                     /db_xref="MIM:620308"
     exon            1..946
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             265..1503
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /note="solute carrier family 33 member 2"
                     /codon_start=1
                     /product="major facilitator superfamily domain-containing
                     protein 3"
                     /protein_id="NP_612440.1"
                     /db_xref="CCDS:CCDS6431.1"
                     /db_xref="GeneID:113655"
                     /db_xref="HGNC:HGNC:25157"
                     /db_xref="MIM:620308"
                     /translation="MRGKLLPLAGLYLVQGLPYGLQSGLLPVLLRAGGLSLTRVGLAK
                     VLYAPWLLKLAWAPLVDAQGSARAWVTRSTAGLGLVCGLLAGLPPPGAGQAGLPAAVA
                     GLLLLLNLGAAMQDVALDALAVQLLEPAELGPGNTVQVVAYKLGAALAGGALLALLPT
                     FSWPQLFLLLAATYWLAAALAWAAPALRRLPQQPPSEQRPHTAHLLRDVLAVPGTVWT
                     AGFVLTYKLGEQGASSLFPLLLLDHGVSAPELGLWNGVGAVVCSIAGSSLGGTLLAKH
                     WKLLPLLRSVLRFRLGGLACQTALVFHLDTLGASMDAGTILRGSALLSLCLQHFLGGL
                     VTTVTFTGMMRCSQLAPRALQATHYSLLATLELLGKLLLGTLAGGLADGLGPHPCFLL
                     LLILSAFPVLYLDLAPSTFL"
     exon            947..1094
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1219
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1329
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1552
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1524..1529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /note="hexamer: AATAAA"
     polyA_site      1552
                     /gene="MFSD3"
                     /gene_synonym="SLC33A2"
                     /note="major polyA site"
ORIGIN      
        1 gcagagcatg ccgggagccg ccggccgccg gtgtccggac cgctcgcccc cgtttggacc
       61 cgacttcggt tcttctgggg tgttgatgct cctaaagccc gagagcacgt gtccagaccc
      121 tagcctgtac gacgctgact ctgcccggtc ccagaaccaa agccatgccg gggtgtggcc
      181 tctgacccca cgcggagggg acctcgcctt gcgggacccc acctggaacc cgacctccca
      241 gcctcgcagc cggcctgagc cgccatgcgc gggaagttgc tgccgctggc cggcctctac
      301 ctggtgcagg gcctgcccta cgggctccag tccggcctcc tgccagtgct gctgcgtgcc
      361 ggcggcctct cgctgacgcg cgtggggctg gccaaggttc tgtacgctcc gtggctgctc
      421 aagctggctt gggccccgct ggtggacgcg cagggctcgg cgagggcctg ggtgacgcgc
      481 agcacggcgg gcctgggcct ggtgtgtggg ctgcttgccg ggctgccccc tcctggagct
      541 ggccaggccg ggctgcccgc cgctgtggcg gggttgctgc tgttgttgaa cctgggtgcc
      601 gccatgcagg atgtggccct ggacgcgctg gctgtgcagc tgctggagcc ggccgaactg
      661 gggccgggca ataccgtgca ggtggtcgcg tacaagctgg gggccgcgct agctgggggc
      721 gcgctgctgg cgctgctgcc caccttctcg tggccgcaac tctttctgct cctggctgcc
      781 acctactggc tggccgcggc cctggcctgg gctgcaccag ccctgcggcg gctcccacag
      841 cagccccctt ccgagcagcg tccccacacc gcgcaccttc tgcgggacgt gctagccgtg
      901 ccggggaccg tgtggacggc aggctttgtg ctcacctaca agctgggtga gcagggtgcc
      961 agcagcctgt ttcctcttct cctgctggac cacggcgttt ctgctcccga gttgggactg
     1021 tggaatggtg tgggtgctgt ggtctgctcc atcgctggct cctccctggg tgggaccttg
     1081 ctggccaagc actggaaact gctgcctctg ttgaggtcgg tgctgcgctt ccgcctcggg
     1141 ggcctagcct gtcagactgc cttggtcttc cacctggaca ccctgggggc cagcatggac
     1201 gctggcacaa tcttgagagg gtcagccttg ctgagcctat gtctgcagca cttcttggga
     1261 ggcctggtca ccacagtcac cttcactggg atgatgcgct gcagccagct ggcccccagg
     1321 gccctgcagg ccacacacta cagccttctg gccacgctgg agctgctggg gaagctgctg
     1381 ctgggcactc tggccggagg cctggctgat gggttggggc cacatccctg cttcttgctc
     1441 ctgctcatcc tctctgcctt tcccgttctg tacctggacc tagcacccag cacctttctc
     1501 tgagctgagt ggctggagtg gtcaataaag ccacatgtgc ctgtggccca ga
//
