LOCUS       NM_001271945            2163 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens transcription factor EB (TFEB), transcript variant 4,
            mRNA.
ACCESSION   NM_001271945
VERSION     NM_001271945.2
KEYWORDS    RefSeq.
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 2163)
  AUTHORS   Huang,Y., Luo,G., Peng,K., Song,Y., Wang,Y., Zhang,H., Li,J.,
            Qiu,X., Pu,M., Liu,X., Peng,C., Neculai,D., Sun,Q., Zhou,T.,
            Huang,P. and Liu,W.
  TITLE     Lactylation stabilizes TFEB to elevate autophagy and lysosomal
            activity
  JOURNAL   J Cell Biol 223 (11) (2024)
   PUBMED   39196068
  REMARK    GeneRIF: Lactylation stabilizes TFEB to elevate autophagy and
            lysosomal activity.
REFERENCE   2  (bases 1 to 2163)
  AUTHORS   Ren,J., Li,J., Tang,H., Hao,L. and Yang,K.
  TITLE     TFEB alleviates periodontitis by activating autophagy and
            inhibiting inflammation
  JOURNAL   Transl Res 273, 127-136 (2024)
   PUBMED   39181195
  REMARK    GeneRIF: TFEB alleviates periodontitis by activating autophagy and
            inhibiting inflammation.
REFERENCE   3  (bases 1 to 2163)
  AUTHORS   Duan,Y., Liu,S., Wang,J., Yang,K., Xu,J., Wang,Q., Liu,J., Hao,J.,
            Cui,X., Tan,Y., Wang,H. and Li,L.
  TITLE     Overexpression of RBM4 promotes acute myeloid leukemia cell
            differentiation by regulating alternative splicing of TFEB
  JOURNAL   J Biol Chem 300 (10), 107729 (2024)
   PUBMED   39214303
  REMARK    GeneRIF: Overexpression of RBM4 promotes acute myeloid leukemia
            cell differentiation by regulating alternative splicing of TFEB.
REFERENCE   4  (bases 1 to 2163)
  AUTHORS   Patel,A.A., Kim,H., Ramesh,R., Marquez,A., Faraj,M.M.,
            Antikainen,H., Lee,A.S., Torres,A., Khawaja,I.M., Heffernan,C.,
            Bonder,E.M., Maurel,P., Svaren,J., Son,Y.J., Dobrowolski,R. and
            Kim,H.A.
  TITLE     TFEB/3 Govern Repair Schwann Cell Generation and Function Following
            Peripheral Nerve Injury
  JOURNAL   J Neurosci 44 (35), e0198242024 (2024)
   PUBMED   39054068
  REMARK    GeneRIF: TFEB/3 Govern Repair Schwann Cell Generation and Function
            Following Peripheral Nerve Injury.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2163)
  AUTHORS   Zheng,W., Zhang,Y., Xu,P., Wang,Z., Shao,X., Chen,C., Cai,H.,
            Wang,Y., Sun,M.A., Deng,W., Liu,F., Lu,J., Zhang,X., Cheng,D.,
            Mysorekar,I.U., Wang,H., Wang,Y.L., Hu,X. and Cao,B.
  TITLE     TFEB safeguards trophoblast syncytialization in humans and mice
  JOURNAL   Proc Natl Acad Sci U S A 121 (28), e2404062121 (2024)
   PUBMED   38968109
  REMARK    GeneRIF: TFEB safeguards trophoblast syncytialization in humans and
            mice.
REFERENCE   6  (bases 1 to 2163)
  AUTHORS   Davis,I.J., Hsi,B.L., Arroyo,J.D., Vargas,S.O., Yeh,Y.A.,
            Motyckova,G., Valencia,P., Perez-Atayde,A.R., Argani,P.,
            Ladanyi,M., Fletcher,J.A. and Fisher,D.E.
  TITLE     Cloning of an Alpha-TFEB fusion in renal tumors harboring the
            t(6;11)(p21;q13) chromosome translocation
  JOURNAL   Proc Natl Acad Sci U S A 100 (10), 6051-6056 (2003)
   PUBMED   12719541
  REMARK    GeneRIF: This gene fuses with an intronless gene in renal tumors
            harboring the t(6;11)(p21;q13) chromosome translocation.
REFERENCE   7  (bases 1 to 2163)
  AUTHORS   Verastegui,C., Bertolotto,C., Bille,K., Abbe,P., Ortonne,J.P. and
            Ballotti,R.
  TITLE     TFE3, a transcription factor homologous to microphthalmia, is a
            potential transcriptional activator of tyrosinase and TyrpI genes
  JOURNAL   Mol Endocrinol 14 (3), 449-456 (2000)
   PUBMED   10707962
REFERENCE   8  (bases 1 to 2163)
  AUTHORS   Steingrimsson,E., Tessarollo,L., Reid,S.W., Jenkins,N.A. and
            Copeland,N.G.
  TITLE     The bHLH-Zip transcription factor Tfeb is essential for placental
            vascularization
  JOURNAL   Development 125 (23), 4607-4616 (1998)
   PUBMED   9806910
REFERENCE   9  (bases 1 to 2163)
  AUTHORS   Steingrimsson,E., Sawadogo,M., Gilbert,D.J., Zervos,A.S., Brent,R.,
            Blanar,M.A., Fisher,D.E., Copeland,N.G. and Jenkins,N.A.
  TITLE     Murine chromosomal location of five bHLH-Zip transcription factor
            genes
  JOURNAL   Genomics 28 (2), 179-183 (1995)
   PUBMED   8530024
REFERENCE   10 (bases 1 to 2163)
  AUTHORS   Carr,C.S. and Sharp,P.A.
  TITLE     A helix-loop-helix protein related to the immunoglobulin E
            box-binding proteins
  JOURNAL   Mol Cell Biol 10 (8), 4384-4388 (1990)
   PUBMED   2115126
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU527754.1 and BC032448.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001271945.1.
            
            Transcript Variant: This variant (4) contains an alternate 5' exon,
            which results in a downstream AUG start codon, compared to variant
            2. The resulting isoform (1) has a shorter N-terminus, compared to
            isoform 2. Variants 1, 3 and 4 encode the same isoform 1.
            
            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 :: SRR14038192.754090.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-514               BU527754.1         1-514
            515-2163            BC032448.1         706-2354
FEATURES             Location/Qualifiers
     source          1..2163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2163
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="transcription factor EB"
                     /db_xref="GeneID:7942"
                     /db_xref="HGNC:HGNC:11753"
                     /db_xref="MIM:600744"
     exon            1..89
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            90..324
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1542
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="isoform 1 is encoded by transcript variant 4;
                     T-cell transcription factor EB; class E basic
                     helix-loop-helix protein 35"
                     /codon_start=1
                     /product="transcription factor EB isoform 1"
                     /protein_id="NP_001258874.1"
                     /db_xref="CCDS:CCDS4858.1"
                     /db_xref="GeneID:7942"
                     /db_xref="HGNC:HGNC:11753"
                     /db_xref="MIM:600744"
                     /translation="MASRIGLRMQLMREQAQQEEQRERMQQQAVMHYMQQQQQQQQQQ
                     LGGPPTPAINTPVHFQSPPPVPGEVLKVQSYLENPTSYHLQQSQHQKVREYLSETYGN
                     KFAAHISPAQGSPKPPPAASPGVRAGHVLSSSAGNSAPNSPMAMLHIGSNPERELDDV
                     IDNIMRLDDVLGYINPEMQMPNTLPLSSSHLNVYSSDPQVTASLVGVTSSSCPADLTQ
                     KRELTDAESRALAKERQKKDNHNLIERRRRFNINDRIKELGMLIPKANDLDVRWNKGT
                     ILKASVDYIRRMQKDLQKSRELENHSRRLEMTNKQLWLRIQELEMQARVHGLPTTSPS
                     GMNMAELAQQVVKQELPSEEGPGEALMLGAEVPDPEPLPALPPQAPLPLPTQPPSPFH
                     HLDFSHSLSFGGREDEGPPGYPEPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPL
                     LSTMSPEASKASSRRSSFSMEEGDVL"
     exon            325..579
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            580..660
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            661..781
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            782..838
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            839..914
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1062
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..2163
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2144..2149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="hexamer: AGTAAA"
     polyA_site      2163
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="major polyA site"
ORIGIN      
        1 gcttcacgca cggctgcccc gagctgctcc gggctgcgcg agcaggttcg cgccgcagcc
       61 gcctggcgcg ccccagcccc gcgccccggg gagccagcgc cggcagccac catggcgtca
      121 cgcatagggt tgcgcatgca gctcatgcgg gagcaggcgc agcaggagga gcagcgggag
      181 cgcatgcagc aacaggctgt catgcattac atgcagcagc agcagcagca gcaacagcag
      241 cagctcggag ggccgcccac cccggccatc aatacccccg tccacttcca gtcgccacca
      301 cctgtgcctg gggaggtgtt gaaggtgcag tcctacctgg agaatcccac atcctaccat
      361 ctgcagcagt cgcagcatca gaaggtgcgg gagtacctgt ccgagaccta tgggaacaag
      421 tttgctgccc acatcagccc agcccagggc tctccgaaac ccccaccagc cgcctcccca
      481 ggggtgcgag ctggacacgt gctgtcctcc tccgctggca acagtgctcc caatagcccc
      541 atggccatgc tgcacattgg ctccaaccct gagagggagt tggatgatgt cattgacaac
      601 attatgcgtc tggacgatgt ccttggctac atcaatcctg aaatgcagat gcccaacacg
      661 ctacccctgt ccagcagcca cctgaatgtg tacagcagcg acccccaggt cacagcctcc
      721 ctggtgggcg tcaccagcag ctcctgccct gcggacctga cccagaagcg agagctcaca
      781 gatgctgaga gcagggccct ggccaaggag cggcagaaga aagacaatca caacttaatt
      841 gaaaggagac gaaggttcaa catcaatgac cgcatcaagg agttgggaat gctgatcccc
      901 aaggccaatg acctggacgt gcgctggaac aagggcacca tcctcaaggc ctctgtggat
      961 tacatccgga ggatgcagaa ggacctgcaa aagtccaggg agctggagaa ccactctcgc
     1021 cgcctggaga tgaccaacaa gcagctctgg ctccgtatcc aggagctgga gatgcaggct
     1081 cgagtgcacg gcctccctac cacctccccg tccggcatga acatggctga gctggcccag
     1141 caggtggtga agcaggagct gcctagcgaa gagggcccag gggaggccct gatgctgggg
     1201 gctgaggtcc ctgaccctga gccactgcca gctctgcccc cgcaagcccc gctgcccctg
     1261 cccacccagc caccatcccc attccatcac ctggacttca gccacagcct gagctttggg
     1321 ggcagggagg acgagggtcc cccgggctac cccgaacccc tggcgccggg gcatggctcc
     1381 ccattcccca gcctgtccaa gaaggatctg gacctcatgc tcctggacga ctcactgcta
     1441 ccgctggcct ctgatccact tctgtccacc atgtcccccg aggcctccaa ggccagcagc
     1501 cgccggagca gcttcagcat ggaggagggc gatgtgctgt gaccctggct gcccctgtgc
     1561 cagggaacag gggccggcct gggggctggg agggccaggg gcacctccct cccacccttc
     1621 aggctgcact gtgtgtgaag tagccacctg ccctgcctcc ctcctccccg ttggcccctg
     1681 tttggactta gtgcctgtct ggcagcctgt ggggtcagga gaagcacccc cagggcagcc
     1741 ctcttgactg gcgcagtggg aagaggcctt cagcccctct cccggagatg gaatcgcggg
     1801 gcagggaggg gcagggtgtt ctagaggtga gaagagggcc tggtggagat tccctgtctt
     1861 ctgagcccga gcccctcatt accagtgaag gacatgcttg aggggttcgg gaagctcctc
     1921 atctgaggca actggtcctg ggggtgctca ggcctgcctt tttgggactc agatggcagg
     1981 aggtccaccc cgcagcctgg tcctcggctc tcccacaggt gggcaccccc cactttggtg
     2041 ctaatagctc tccaccaggt ggtgtgagcg cgggggctgc cagaagcggg aggggtcact
     2101 gccggaagag cagctgccct ccgacccctc actttgtgcc tttagtaaac actgtgcttt
     2161 gta
//
