LOCUS       NM_001271944            2333 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transcription factor EB (TFEB), transcript variant 3,
            mRNA.
ACCESSION   NM_001271944
VERSION     NM_001271944.2
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 2333)
  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 2333)
  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 2333)
  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 2333)
  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 2333)
  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 2333)
  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 2333)
  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 2333)
  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 2333)
  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 2333)
  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
            AL365205.35, AW294760.1 and BC032448.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001271944.1.
            
            Transcript Variant: This variant (3) 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 :: M33782.1, SRR11853559.27839.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373033.6/ ENSP00000362124.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                AL365205.35        5812-5892           c
            82-343              AW294760.1         1-262
            344-2333            BC032448.1         365-2354
FEATURES             Location/Qualifiers
     source          1..2333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2333
                     /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..259
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            260..494
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..1712
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="isoform 1 is encoded by transcript variant 3;
                     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_001258873.1"
                     /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            495..749
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            750..830
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            831..951
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1008
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1084
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1232
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..2333
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2314..2319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="hexamer: AGTAAA"
     polyA_site      2333
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /note="major polyA site"
ORIGIN      
        1 gtggagtgac agccggagcc cgggcgccgg gcgcggggct cggtgacagc ggaggcggcg
       61 gcccgggcgg gacgcaggga gcggccgcgg cgccgacggc ggcgggaagg gcggacgggg
      121 cgggcctccc tggtggcacg gggccggagc aggccgggag caggtggcgg gcacagcttg
      181 cgggccaggc acccgaactt gcgacaagtt gccggagccg cggggcgcgg gcggcggaca
      241 gattgacctt cagagcgagg gagccagcgc cggcagccac catggcgtca cgcatagggt
      301 tgcgcatgca gctcatgcgg gagcaggcgc agcaggagga gcagcgggag cgcatgcagc
      361 aacaggctgt catgcattac atgcagcagc agcagcagca gcaacagcag cagctcggag
      421 ggccgcccac cccggccatc aatacccccg tccacttcca gtcgccacca cctgtgcctg
      481 gggaggtgtt gaaggtgcag tcctacctgg agaatcccac atcctaccat ctgcagcagt
      541 cgcagcatca gaaggtgcgg gagtacctgt ccgagaccta tgggaacaag tttgctgccc
      601 acatcagccc agcccagggc tctccgaaac ccccaccagc cgcctcccca ggggtgcgag
      661 ctggacacgt gctgtcctcc tccgctggca acagtgctcc caatagcccc atggccatgc
      721 tgcacattgg ctccaaccct gagagggagt tggatgatgt cattgacaac attatgcgtc
      781 tggacgatgt ccttggctac atcaatcctg aaatgcagat gcccaacacg ctacccctgt
      841 ccagcagcca cctgaatgtg tacagcagcg acccccaggt cacagcctcc ctggtgggcg
      901 tcaccagcag ctcctgccct gcggacctga cccagaagcg agagctcaca gatgctgaga
      961 gcagggccct ggccaaggag cggcagaaga aagacaatca caacttaatt gaaaggagac
     1021 gaaggttcaa catcaatgac cgcatcaagg agttgggaat gctgatcccc aaggccaatg
     1081 acctggacgt gcgctggaac aagggcacca tcctcaaggc ctctgtggat tacatccgga
     1141 ggatgcagaa ggacctgcaa aagtccaggg agctggagaa ccactctcgc cgcctggaga
     1201 tgaccaacaa gcagctctgg ctccgtatcc aggagctgga gatgcaggct cgagtgcacg
     1261 gcctccctac cacctccccg tccggcatga acatggctga gctggcccag caggtggtga
     1321 agcaggagct gcctagcgaa gagggcccag gggaggccct gatgctgggg gctgaggtcc
     1381 ctgaccctga gccactgcca gctctgcccc cgcaagcccc gctgcccctg cccacccagc
     1441 caccatcccc attccatcac ctggacttca gccacagcct gagctttggg ggcagggagg
     1501 acgagggtcc cccgggctac cccgaacccc tggcgccggg gcatggctcc ccattcccca
     1561 gcctgtccaa gaaggatctg gacctcatgc tcctggacga ctcactgcta ccgctggcct
     1621 ctgatccact tctgtccacc atgtcccccg aggcctccaa ggccagcagc cgccggagca
     1681 gcttcagcat ggaggagggc gatgtgctgt gaccctggct gcccctgtgc cagggaacag
     1741 gggccggcct gggggctggg agggccaggg gcacctccct cccacccttc aggctgcact
     1801 gtgtgtgaag tagccacctg ccctgcctcc ctcctccccg ttggcccctg tttggactta
     1861 gtgcctgtct ggcagcctgt ggggtcagga gaagcacccc cagggcagcc ctcttgactg
     1921 gcgcagtggg aagaggcctt cagcccctct cccggagatg gaatcgcggg gcagggaggg
     1981 gcagggtgtt ctagaggtga gaagagggcc tggtggagat tccctgtctt ctgagcccga
     2041 gcccctcatt accagtgaag gacatgcttg aggggttcgg gaagctcctc atctgaggca
     2101 actggtcctg ggggtgctca ggcctgcctt tttgggactc agatggcagg aggtccaccc
     2161 cgcagcctgg tcctcggctc tcccacaggt gggcaccccc cactttggtg ctaatagctc
     2221 tccaccaggt ggtgtgagcg cgggggctgc cagaagcggg aggggtcact gccggaagag
     2281 cagctgccct ccgacccctc actttgtgcc tttagtaaac actgtgcttt gta
//
