LOCUS       NM_001371596            4422 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens major facilitator superfamily domain containing 8
            (MFSD8), transcript variant 10, mRNA.
ACCESSION   NM_001371596 XM_005262893
VERSION     NM_001371596.2
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 4422)
  AUTHORS   Dobloug,S., Kjellstrom,U., Anderson,G., Gardner,E., Mole,S.E.,
            Sheth,J. and Puschmann,A.
  TITLE     Maculopathy and adult-onset ataxia in patients with biallelic MFSD8
            variants
  JOURNAL   Mol Genet Genomic Med 12 (8), e2505 (2024)
   PUBMED   39108195
  REMARK    GeneRIF: Maculopathy and adult-onset ataxia in patients with
            biallelic MFSD8 variants.
REFERENCE   2  (bases 1 to 4422)
  AUTHORS   Poncet,A.F., Grunewald,O., Vaclavik,V., Meunier,I., Drumare,I.,
            Pelletier,V., Bocquet,B., Todorova,M.G., Le Moing,A.G., Devos,A.,
            Schorderet,D.F., Jobic,F., Defoort-Dhellemmes,S., Dollfus,H.,
            Smirnov,V.M. and Dhaenens,C.M.
  TITLE     Contribution of Whole-Genome Sequencing and Transcript Analysis to
            Decipher Retinal Diseases Associated with MFSD8 Variants
  JOURNAL   Int J Mol Sci 23 (8), 4294 (2022)
   PUBMED   35457110
  REMARK    GeneRIF: Contribution of Whole-Genome Sequencing and Transcript
            Analysis to Decipher Retinal Diseases Associated with MFSD8
            Variants.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4422)
  AUTHORS   Reith,M., Zeltner,L., Schaferhoff,K., Witt,D., Zuleger,T.,
            Haack,T.B., Bornemann,A., Alber,M., Ruf,S., Schoels,L., Stingl,K.
            and Weisschuh,N.
  TITLE     A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid
            Lipofuscinosis with Marked Intrafamilial Variability
  JOURNAL   Int J Mol Sci 23 (4), 2271 (2022)
   PUBMED   35216386
  REMARK    GeneRIF: A Novel, Apparently Silent Variant in MFSD8 Causes
            Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial
            Variability.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4422)
  AUTHORS   Lopez-Fabuel,I., Garcia-Macia,M., Buondelmonte,C., Burmistrova,O.,
            Bonora,N., Alonso-Batan,P., Morant-Ferrando,B.,
            Vicente-Gutierrez,C., Jimenez-Blasco,D., Quintana-Cabrera,R.,
            Fernandez,E., Llop,J., Ramos-Cabrer,P., Sharaireh,A.,
            Guevara-Ferrer,M., Fitzpatrick,L., Thompton,C.D., McKay,T.R.,
            Storch,S., Medina,D.L., Mole,S.E., Fedichev,P.O., Almeida,A. and
            Bolanos,J.P.
  TITLE     Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7
            neuronal ceroid lipofuscinosis
  JOURNAL   Nat Commun 13 (1), 536 (2022)
   PUBMED   35087090
  REMARK    GeneRIF: Aberrant upregulation of the glycolytic enzyme PFKFB3 in
            CLN7 neuronal ceroid lipofuscinosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4422)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   6  (bases 1 to 4422)
  AUTHORS   Siintola,E., Topcu,M., Aula,N., Lohi,H., Minassian,B.A.,
            Paterson,A.D., Liu,X.Q., Wilson,C., Lahtinen,U., Anttonen,A.K. and
            Lehesjoki,A.E.
  TITLE     The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a
            putative lysosomal transporter
  JOURNAL   Am J Hum Genet 81 (1), 136-146 (2007)
   PUBMED   17564970
  REMARK    GeneRIF: MFSD8 gene is involved in late-infantile-onset neuronal
            ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2.
REFERENCE   7  (bases 1 to 4422)
  AUTHORS   Mitchell,W.A., Wheeler,R.B., Sharp,J.D., Bate,S.L., Gardiner,R.M.,
            Ranta,U.S., Lonka,L., Williams,R.E., Lehesjoki,A.E. and Mole,S.E.
  TITLE     Turkish variant late infantile neuronal ceroid lipofuscinosis
            (CLN7) may be allelic to CLN8
  JOURNAL   Eur J Paediatr Neurol 5 Suppl A, 21-27 (2001)
   PUBMED   11589000
REFERENCE   8  (bases 1 to 4422)
  AUTHORS   Wheeler,R.B., Sharp,J.D., Mitchell,W.A., Bate,S.L., Williams,R.E.,
            Lake,B.D. and Gardiner,R.M.
  TITLE     A new locus for variant late infantile neuronal ceroid
            lipofuscinosis-CLN7
  JOURNAL   Mol Genet Metab 66 (4), 337-338 (1999)
   PUBMED   10191125
REFERENCE   9  (bases 1 to 4422)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   10 (bases 1 to 4422)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099340.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 21, 2019 this sequence version replaced NM_001371596.1.
            
            Summary: This gene encodes a ubiquitous integral membrane protein
            that contains a transporter domain and a major facilitator
            superfamily (MFS) domain. Other members of the major facilitator
            superfamily transport small solutes through chemiosmotic ion
            gradients. The substrate transported by this protein is unknown.
            The protein likely localizes to lysosomal membranes. Mutations in
            this gene are correlated with a variant form of late
            infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided
            by RefSeq, Oct 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR11853563.25775.1,
                                           SRR1660809.148187.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641686.2/ ENSP00000493218.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-102               AC099340.3         56959-57060         c
            103-194             AC099340.3         49388-49479         c
            195-238             AC099340.3         41691-41734         c
            239-479             AC099340.3         35639-35879         c
            480-593             AC099340.3         33932-34045         c
            594-738             AC099340.3         31740-31884         c
            739-794             AC099340.3         30670-30725         c
            795-903             AC099340.3         24872-24980         c
            904-1038            AC099340.3         22570-22704         c
            1039-1142           AC099340.3         13747-13850         c
            1143-1390           AC099340.3         13411-13658         c
            1391-4422           AC099340.3         9692-12723          c
FEATURES             Location/Qualifiers
     source          1..4422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.2"
     gene            1..4422
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /note="major facilitator superfamily domain containing 8"
                     /db_xref="GeneID:256471"
                     /db_xref="HGNC:HGNC:28486"
                     /db_xref="MIM:611124"
     exon            1..102
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1597
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /note="isoform 1 is encoded by transcript variant 10;
                     ceroid-lipofuscinosis, neuronal 7, late infantile; major
                     facilitator superfamily domain-containing protein 8"
                     /codon_start=1
                     /product="major facilitator superfamily domain-containing
                     protein 8 isoform 1"
                     /protein_id="NP_001358525.1"
                     /db_xref="CCDS:CCDS3736.1"
                     /db_xref="GeneID:256471"
                     /db_xref="HGNC:HGNC:28486"
                     /db_xref="MIM:611124"
                     /translation="MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYL
                     TMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRP
                     RKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
                     SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSA
                     FLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLF
                     FVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKI
                     GERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPME
                     DDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQ
                     GVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIA
                     LSVRYGRIQE"
     exon            103..194
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            195..238
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            239..479
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            480..593
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            594..738
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            739..794
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            795..903
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1038
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1142
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1390
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..4422
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1884..1889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /note="major polyA site"
     regulatory      4396..4401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /note="hexamer: AATAAA"
     polyA_site      4422
                     /gene="MFSD8"
                     /gene_synonym="CCMD; CLN7; SLC74A1"
                     /note="major polyA site"
ORIGIN      
        1 gcgagagttg ggcgcaagac gccttgtagg gagtgtaact atggccggcc tgcggaacga
       61 aagtgaacag gagccgctct taggcgacac acctggaagc agagaatggg acattttaga
      121 gactgaagag cattataaga gccgatggag atctattagg attttatatc ttactatgtt
      181 tctcagcagt gtagggtttt ctgtagtgat gatgtccata tggccatatc tccaaaagat
      241 tgatccgaca gctgatacaa gttttttggg ctgggttatt gcttcatata gtcttggcca
      301 aatggtagct tcacctatat ttggtttatg gtctaattat agaccaagaa aagagcctct
      361 tattgtctcc atcttgattt ccgtggcagc caactgcctc tatgcatatc tccacatccc
      421 agcttctcat aataaatact acatgctggt tgctcgtgga ttgttgggaa ttggagcagg
      481 aaatgtagca gttgttagat catatactgc tggtgctact tcccttcagg aaagaacaag
      541 ttccatggca aacataagca tgtgtcaagc attaggtttt attctaggtc cagtttttca
      601 gacttgtttt acattccttg gagaaaaagg tgtgacatgg gatgtgatta aactgcagat
      661 aaacatgtat acaacaccag ttttacttag cgccttcctg ggaattttaa atattattct
      721 gatccttgcc atactaagag aacatcgtgt ggatgactca ggaagacagt gtaaaagtat
      781 taattttgaa gaagcaagta cagatgaagc tcaggttccc caaggaaata ttgaccaggt
      841 tgctgttgtg gccatcaatg ttctgttttt tgtgactcta tttatctttg ccctttttga
      901 aaccatcatt actccattaa caatggatat gtatgcctgg actcaagaac aagctgtgtt
      961 atataatggc ataatacttg ctgctcttgg ggttgaagcc gttgttattt tcttaggagt
     1021 taagttgctt tccaaaaaga ttggcgagcg tgctattcta ctgggaggac tcatcgttgt
     1081 atgggttggc ttctttatct tgttaccttg gggaaatcaa tttcccaaaa tacagtggga
     1141 agatttgcac aataattcaa tccctaatac cacatttggg gaaattatta ttggtctttg
     1201 gaagtctcca atggaagatg acaatgaaag accaactggt tgctcgattg aacaagcctg
     1261 gtgcctctac accccggtga ttcatctggc ccagttcctt acatcagctg tgctaatagg
     1321 attaggctat ccagtctgca atcttatgtc ctatactcta tattcaaaaa ttctaggacc
     1381 aaaacctcag ggtgtataca tgggctggtt aacagcatct ggaagtggag cccggattct
     1441 tgggcctatg ttcatcagcc aagtgtatgc tcactgggga ccacgatggg cattcagcct
     1501 ggtgtgtgga ataatagtgc tcaccatcac cctcctggga gtggtttaca aaagactcat
     1561 tgctctttct gtaagatatg ggaggattca ggaataaact agctaagact gtgatggaaa
     1621 ctacttgctg tgtggcactt cctggtctaa agctctgcta gacaattgcg gtgagccagt
     1681 ctccaagaat cagactacag atattgcaga ttttgaagaa caagaacata tgttgaataa
     1741 cagagagaat tctacatgtc attgtgaata gtaggttata taaaaacata ctagatgata
     1801 atttccttac ctcagaaatg aaatattatt cttataatac ctttttgtgg ttgcatgaac
     1861 taatgagtga atggacaatg atgaataaat gtgaagctgt attcttaata cccactgcag
     1921 aagtgtcatt aaaataatat acagtggaac cagaaagagg gttctgtaag aattagccat
     1981 agcagaacaa aattatagaa ttttaaatac ctctacccaa gtagaggtat ttttattcag
     2041 acacctactt tttatttata aaaaaatgca ttttctatta tcaagttcac ttatgaaata
     2101 aaaattataa cacatatttt ccatttagcg tgcctaacat cctaccttgc cttctatgag
     2161 tctttcttct aatactacac ctctgcctta ttttagttca gggtttcact aagtaacccc
     2221 tacattaata aatgagtatg gataatgcta atatttgagc aatacagagg attaagagat
     2281 caagatactt cactgcctat tagcctaata gggataccta ctttctttca aatgccaaaa
     2341 attcacatta gaaacataat ccagatatgt gttattttat atatatatat acaaaacagt
     2401 aaatggtttc ttaaaattat tgctattttt caaccccctt aaactggaga aaaacattta
     2461 attagtaaaa cattaattaa tttactttaa tttttcccat ctctcagtag tggcggggag
     2521 gaacacaaca gttttcaatc tatgtctgca tagttgtgta gagctgcaga attttagttg
     2581 gatttttaat ttggatgatc cctgacagcc ccaaactagt caggctaata agtatttgag
     2641 gcaaaatggc tttaatctaa caatttactg agtttacctg aagttggcta aataacactg
     2701 tatgtttaac ttctacctct acataagttg aatgctgata aaaggaacta gtagataact
     2761 atgtatattg ataagcactg ttaagaaaat gcaaaaatat ttctaaacac ttttccaaat
     2821 gttttctact ttaagttaga aatagtttca aatctgagaa taaacactat ataatctgca
     2881 ctttataggt tgggtgcagt gtctcatgcc tgtaatccca gcactttgga aggccaaggc
     2941 aggaggattg cttgaggcca ggaattcaag accagcctgg gaaacaaagt gagaccctgt
     3001 ctttacaaaa aataaaaaca aaaatttaaa actgtataat ctgcacttta tgctaaacta
     3061 gctgtgctct taaactcaat tttttcagct ctaataaagg gcttaatttg atagaattat
     3121 tctacgatta aattttgaag actgttttca ctctcctctg ccgcccatag caagactgct
     3181 tccatagatt tctcagaacc gtagccagtt ctggctattt ggtcaagtct gggatccctc
     3241 ttacctgcta ttctgcagct gctttctctg tcttacattt tttgggccac gtctaatctt
     3301 aaagagtaaa ctctaccctt ggtttgcata gtgtgcatga caaaaataac aagaataatg
     3361 gtaatgatga aaatgataag agcaaaattt gtggagtgct ttccacattc caggtaatgt
     3421 gtaacataca atttaattct tacagcagtc ttatggagtg aaaatactat tatgattccc
     3481 gttttacaga tgaaagaatg gaggcacaga aaagttactt gtctaagtaa cagtctatcc
     3541 ttaaagtcca cagtcttaac cacttgattt ttcatagtga ggaaaatatc ccagaaagtt
     3601 gcagtttcaa ttaatcacta attgtagggt aatttaacta taccagtgag tcctactagc
     3661 agaaatattt gggcaacata agcccactga ctggagcttt tgtcttagca taataacctg
     3721 tttccagcaa gaatataaca gaaaaaagtt tcccagcttt caaaggttta taatattgat
     3781 taaaatttag ataaacttaa ccttacacaa atgactctta ctttcctttt tattgagagc
     3841 attttctttg gagcattttc ttctttggag gattatacct tgctcatctt ggcacaaaag
     3901 aaggcgaaag gaagtaacat gggattggga aaagagcaag gagataaagt ttgaggaaaa
     3961 aaaatcacca tgttgatgtc ttcttgagta ggccaagttg cgtataaaga gaaaatgaca
     4021 acaggagatt ttaaggtatg atatattgtt aagagtagta catatttaag aagagaaaat
     4081 atgtttttga aaacaaattt aaacttgaaa ggatgatttt catattttga agggatttat
     4141 aacttcacaa agcatctcca ttctatcttg ttcagcttta catttaaaaa taaactcttc
     4201 ttgttcatat aaaccttatc tcttacataa agtgaaatct gttaattttt tgttttgaca
     4261 aggataaact acttacctgc atctgtttaa gaatagatta acttattttg agaagaaatt
     4321 ctgggcacca tttttgacca ttgaagactt atttgtaatt taatttctac tttacattgt
     4381 gaatgttcat tttctaataa acaagattat tttgcatatg ta
//
