LOCUS       NM_022736               2231 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens major facilitator superfamily domain containing 1
            (MFSD1), transcript variant 1, mRNA.
ACCESSION   NM_022736
VERSION     NM_022736.4
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 2231)
  AUTHORS   Boytsov,D., Madej,G.M., Horn,G., Blaha,N., Kocher,T., Sitte,H.H.,
            Siekhaus,D., Ziegler,C., Sandtner,W. and Roblek,M.
  TITLE     Orphan lysosomal solute carrier MFSD1 facilitates highly selective
            dipeptide transport
  JOURNAL   Proc Natl Acad Sci U S A 121 (13), e2319686121 (2024)
   PUBMED   38507452
  REMARK    GeneRIF: Orphan lysosomal solute carrier MFSD1 facilitates highly
            selective dipeptide transport.
REFERENCE   2  (bases 1 to 2231)
  AUTHORS   Massa Lopez,D., Thelen,M., Stahl,F., Thiel,C., Linhorst,A.,
            Sylvester,M., Hermanns-Borgmeyer,I., Lullmann-Rauch,R., Eskild,W.,
            Saftig,P. and Damme,M.
  TITLE     The lysosomal transporter MFSD1 is essential for liver homeostasis
            and critically depends on its accessory subunit GLMP
  JOURNAL   Elife 8, e50025 (2019)
   PUBMED   31661432
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2231)
  AUTHORS   Valoskova,K., Biebl,J., Roblek,M., Emtenani,S., Gyoergy,A.,
            Misova,M., Ratheesh,A., Reis-Rodrigues,P., Shkarina,K.,
            Larsen,I.S.B., Vakhrushev,S.Y., Clausen,H. and Siekhaus,D.E.
  TITLE     A conserved major facilitator superfamily member orchestrates a
            subset of O-glycosylation to aid macrophage tissue invasion
  JOURNAL   Elife 8, e41801 (2019)
   PUBMED   30910009
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2231)
  AUTHORS   Teumer,A., Holtfreter,B., Volker,U., Petersmann,A., Nauck,M.,
            Biffar,R., Volzke,H., Kroemer,H.K., Meisel,P., Homuth,G. and
            Kocher,T.
  TITLE     Genome-wide association study of chronic periodontitis in a general
            German population
  JOURNAL   J Clin Periodontol 40 (11), 977-985 (2013)
   PUBMED   24024966
REFERENCE   5  (bases 1 to 2231)
  AUTHORS   Palmieri,M., Impey,S., Kang,H., di Ronza,A., Pelz,C., Sardiello,M.
            and Ballabio,A.
  TITLE     Characterization of the CLEAR network reveals an integrated control
            of cellular clearance pathways
  JOURNAL   Hum Mol Genet 20 (19), 3852-3866 (2011)
   PUBMED   21752829
  REMARK    GeneRIF: MFSD1 protein localizes in lysosomes in HeLa cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK297593.1 and BC017661.1.
            
            On May 17, 2019 this sequence version replaced NM_022736.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.216657.1, BC017661.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000415822.8/ ENSP00000403117.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               AK297593.1         129-271
            144-2231            BC017661.1         105-2192
FEATURES             Location/Qualifiers
     source          1..2231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32"
     gene            1..2231
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /note="major facilitator superfamily domain containing 1"
                     /db_xref="GeneID:64747"
                     /db_xref="HGNC:HGNC:25874"
                     /db_xref="MIM:619976"
     exon            1..262
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1497
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /note="isoform 1 is encoded by transcript variant 1; major
                     facilitator superfamily domain-containing protein 1;
                     smooth muscle cell-associated protein 4; lysosomal
                     dipeptide transporter MFSD1"
                     /codon_start=1
                     /product="lysosomal dipeptide transporter MFSD1 isoform 1"
                     /protein_id="NP_073573.3"
                     /db_xref="CCDS:CCDS3185.3"
                     /db_xref="GeneID:64747"
                     /db_xref="HGNC:HGNC:25874"
                     /db_xref="MIM:619976"
                     /translation="MEEEDEEARALLAGGPDEADRGAPAAPGALPALCDPSRLAHRLL
                     VLLLMCFLGFGSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFL
                     IDRVFGIRWGTIIFSCFVCIGQVVFALGGIFNAFWLMEFGRFVFGIGGESLAVAQNTY
                     AVSWFKGKELNLVFGLQLSMARIGSTVNMNLMGWLYSKIEALLGSAGHTTLGITLMIG
                     GITCILSLICALALAYLDQRAERILHKEQGKTGEVIKLTDVKDFSLPLWLIFIICVCY
                     YVAVFPFIGLGKVFFTEKFGFSSQAASAINSVVYVISAPMSPVFGLLVDKTGKNIIWV
                     LCAVAATLVSHMMLAFTMWNPWIAMCLLGLSYSLLACALWPMVAFVVPEHQLGTAYGF
                     MQSIQNLGLAIISIIAGMILDSRGYLFLEVFFIACVSLSLLSVVLLYLVNRAQGGNLN
                     YSARQREEIKFSHTE"
     exon            263..315
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            316..428
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            429..471
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            472..539
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            540..648
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            649..751
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            752..850
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            851..962
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1019
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1176
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1274
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1387
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1435
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1493
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..2231
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2212..2217
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /note="hexamer: ATTAAA"
     polyA_site      2231
                     /gene="MFSD1"
                     /gene_synonym="Minerva; SLC72A1; SMAP4"
                     /note="major polyA site"
ORIGIN      
        1 agtcatgtga ccgccgtctt gacagtgttc cacgggcgct gcttcctgcc tgggtttgga
       61 gttgtcacca ctttcccctc tccgtctcct gcgggcgcaa tggaggagga ggatgaggaa
      121 gcgcgggcgc tcctggcagg cggccctgac gaggccgaca gaggtgcccc ggccgcccct
      181 ggagccctgc cggccctctg cgaccccagt cgcctggcgc accggctttt ggtgctgtta
      241 ctgatgtgct tccttggctt tggcagctat ttttgctatg ataatcctgc tgcccttcag
      301 actcaagtta aacgagatat gcaagtgaat accacgaaat tcatgctgct gtatgcctgg
      361 tattcttggc ccaatgtagt tttgtgtttc tttggtggct ttttgataga ccgagtattt
      421 ggaatacgat ggggcacaat catttttagc tgctttgttt gcattggaca ggttgttttt
      481 gccctgggtg gaatatttaa tgctttttgg ctgatggaat ttggaagatt tgtatttggg
      541 attggtggcg agtccttagc agttgcccag aatacatatg ctgtgagctg gtttaaaggc
      601 aaagaattaa acctggtgtt tggacttcaa cttagcatgg ctagaattgg aagtacagta
      661 aacatgaacc tcatgggatg gctgtattct aagattgaag ctttgttagg ttctgctggt
      721 cacacaaccc tcgggatcac acttatgatt gggggtataa cgtgtattct ttcactaatc
      781 tgtgccttgg ctcttgccta cttggatcag agagcagaga gaatccttca taaagaacaa
      841 ggaaaaacag gtgaagttat taaattaact gatgtaaagg acttctcctt acccctgtgg
      901 cttatattta tcatctgtgt ctgctattat gttgctgtgt tcccttttat tggacttggg
      961 aaagttttct ttacagagaa atttggattt tcttcccagg cagcaagtgc aattaacagt
     1021 gttgtatatg tcatatcagc tcccatgtcc ccggtgtttg ggctcctggt ggataaaaca
     1081 gggaagaaca tcatctgggt tctttgcgca gtagcagcca ctcttgtgtc ccacatgatg
     1141 ctggccttta cgatgtggaa cccttggatt gctatgtgtc ttctgggact ctcctactca
     1201 ttgcttgcct gtgcattgtg gccaatggtg gcatttgtag ttcctgaaca tcagctggga
     1261 actgcatatg gcttcatgca gtccattcag aatcttgggt tggccatcat ttccatcatt
     1321 gctggtatga tactggattc tcgggggtat ttgtttttgg aagtgttctt cattgcctgt
     1381 gtttctttgt cacttttatc tgtggtctta ctctatttgg tgaatcgtgc ccagggtggg
     1441 aacctaaatt attctgcaag acaaagggaa gaaataaaat tttcccatac tgaatgagaa
     1501 gttaaaatga atgtgtcatg agaatgggct taacacatcg ttggtttgaa aacttccatt
     1561 tttaaaaatt tagagtttag tcattagaaa aaataatgga ctggaaagtt atatttatat
     1621 ccaaatatac ctatttcaaa gtgtatttgt gaggcctgtt ttagcctgtg tcttttgtat
     1681 tgtgtgttgc taaagaattc tacttttagt aggctaatca acaatgaaag ggttagaaaa
     1741 ttgctgtgga acatccaggt gaacttcagg aaagacagtg aaaaatggaa aacgttggag
     1801 cttctgttga gataatcttc attaggtata tatcttaggg atacagcctt ttctttatct
     1861 tatagcagga aaaaaaaact tttgagggaa atagaagggc tgcgttacac aaaataaaca
     1921 atggcattgt cataggcctt ccttttacta gtagggcata atgctaggga atatgtgaag
     1981 atgtttttat gaagtctctt tctgatcacg aacaatagct tgcgctctac tctgtagtta
     2041 tgtggattgc cgagcaatga cccttttcaa tttcttattt ctgtgttact gaggacccta
     2101 atcacttagg gatgtaattt tatagtataa actttctgta cagtttttct tatagtctaa
     2161 taagtaaaaa gtgtccttca aattatgata attgcctatg tacatggata aattaaaaca
     2221 ctgcacacgg a
//
