LOCUS       NM_000660               2780 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens transforming growth factor beta 1 (TGFB1), mRNA.
ACCESSION   NM_000660
VERSION     NM_000660.7
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 2780)
  AUTHORS   Fu,Y., Sun,X., He,Q., Gu,Z., Jia,X. and Zhuang,Z.
  TITLE     Connexin 43 controls metastatic behavior in triple negative breast
            cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based
            on optical image diagnosis
  JOURNAL   SLAS Technol 29 (5), 100190 (2024)
   PUBMED   39299505
  REMARK    GeneRIF: Connexin 43 controls metastatic behavior in triple
            negative breast cancer through TGFbeta1-Smad3-intergin alphaV
            signaling axis Based on optical image diagnosis.
REFERENCE   2  (bases 1 to 2780)
  AUTHORS   Tang,Z., Zhang,D., Yao,C., Jiang,M., Wang,C., Chen,Z., Yu,H.,
            Xue,C., Liu,Y., Shi,Y., Zhang,L., Wang,X. and Wei,Z.
  TITLE     TIPE2 inhibits the migration and invasion of epithelial ovarian
            cancer cells by targeting Smad2 to reverse TGF-beta1-induced EMT
  JOURNAL   FASEB J 38 (17), e70045 (2024)
   PUBMED   39259551
  REMARK    GeneRIF: TIPE2 inhibits the migration and invasion of epithelial
            ovarian cancer cells by targeting Smad2 to reverse
            TGF-beta1-induced EMT.
REFERENCE   3  (bases 1 to 2780)
  AUTHORS   Dubois,C.M., Laprise,M.H., Blanchette,F., Gentry,L.E. and Leduc,R.
  TITLE     Processing of transforming growth factor beta 1 precursor by human
            furin convertase
  JOURNAL   J Biol Chem 270 (18), 10618-10624 (1995)
   PUBMED   7737999
REFERENCE   4  (bases 1 to 2780)
  AUTHORS   Wallace,S.E. and Wilcox,W.R.
  TITLE     Camurati-Engelmann Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301335
REFERENCE   5  (bases 1 to 2780)
  AUTHORS   Zauli,G., Davis,B.R., Re,M.C., Visani,G., Furlini,G. and La
            Placa,M.
  TITLE     tat protein stimulates production of transforming growth
            factor-beta 1 by marrow macrophages: a potential mechanism for
            human immunodeficiency virus-1-induced hematopoietic suppression
  JOURNAL   Blood 80 (12), 3036-3043 (1992)
   PUBMED   1281686
REFERENCE   6  (bases 1 to 2780)
  AUTHORS   Cheifetz,S., Bellon,T., Cales,C., Vera,S., Bernabeu,C., Massague,J.
            and Letarte,M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   7  (bases 1 to 2780)
  AUTHORS   Kim,S.J., Glick,A., Sporn,M.B. and Roberts,A.B.
  TITLE     Characterization of the promoter region of the human transforming
            growth factor-beta 1 gene
  JOURNAL   J Biol Chem 264 (1), 402-408 (1989)
   PUBMED   2909528
REFERENCE   8  (bases 1 to 2780)
  AUTHORS   Miyazono,K., Hellman,U., Wernstedt,C. and Heldin,C.H.
  TITLE     Latent high molecular weight complex of transforming growth factor
            beta 1. Purification from human platelets and structural
            characterization
  JOURNAL   J Biol Chem 263 (13), 6407-6415 (1988)
   PUBMED   3162913
REFERENCE   9  (bases 1 to 2780)
  AUTHORS   Derynck,R., Rhee,L., Chen,E.Y. and Van Tilburg,A.
  TITLE     Intron-exon structure of the human transforming growth factor-beta
            precursor gene
  JOURNAL   Nucleic Acids Res 15 (7), 3188-3189 (1987)
   PUBMED   3470709
REFERENCE   10 (bases 1 to 2780)
  AUTHORS   Derynck,R., Jarrett,J.A., Chen,E.Y., Eaton,D.H., Bell,J.R.,
            Assoian,R.K., Roberts,A.B., Sporn,M.B. and Goeddel,D.V.
  TITLE     Human transforming growth factor-beta complementary DNA sequence
            and expression in normal and transformed cells
  JOURNAL   Nature 316 (6030), 701-705 (1985)
   PUBMED   3861940
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011462.4, X02812.1,
            BC000125.1 and BM692012.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000660.6.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate a latency-associated peptide
            (LAP) and a mature peptide, and is found in either a latent form
            composed of a mature peptide homodimer, a LAP homodimer, and a
            latent TGF-beta binding protein, or in an active form consisting
            solely of the mature peptide homodimer. The mature peptide may also
            form heterodimers with other TGFB family members. This encoded
            protein regulates cell proliferation, differentiation and growth,
            and can modulate expression and activation of other growth factors
            including interferon gamma and tumor necrosis factor alpha. This
            gene is frequently upregulated in tumor cells, and mutations in
            this gene result in Camurati-Engelmann disease. [provided by
            RefSeq, Aug 2016].
            
            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 :: X02812.1, SRR3476690.819241.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221930.6/ ENSP00000221930.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                AC011462.4         77040-77078
            40-117              X02812.1           1-78
            118-751             X02812.1           80-713
            752-951             X02812.1           715-914
            952-2151            BC000125.1         520-1719
            2152-2438           X02812.1           2117-2403
            2439-2469           X02812.1           2405-2435
            2470-2631           BM692012.1         37-198
            2632-2780           X02812.1           2597-2745
FEATURES             Location/Qualifiers
     source          1..2780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2780
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="transforming growth factor beta 1"
                     /db_xref="GeneID:7040"
                     /db_xref="HGNC:HGNC:11766"
                     /db_xref="MIM:190180"
     exon            1..1233
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     CDS             879..2051
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="prepro-transforming growth factor beta-1;
                     latency-associated peptide; TGF-beta-1; transforming
                     growth factor beta-1 proprotein; transforming growth
                     factor beta1"
                     /codon_start=1
                     /product="transforming growth factor beta-1 proprotein
                     preproprotein"
                     /protein_id="NP_000651.3"
                     /db_xref="CCDS:CCDS33031.1"
                     /db_xref="GeneID:7040"
                     /db_xref="HGNC:HGNC:11766"
                     /db_xref="MIM:190180"
                     /translation="MPPSGLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRK
                     RIEAIRGQILSKLRLASPPSQGEVPPGPLPEAVLALYNSTRDRVAGESAEPEPEPEAD
                     YYAKEVTRVLMVETHNEIYDKFKQSTHSIYMFFNTSELREAVPEPVLLSRAELRLLRL
                     KLKVEQHVELYQKYSNNSWRYLSNRLLAPSDSPEWLSFDVTGVVRQWLSRGGEIEGFR
                     LSAHCSCDSRDNTLQVDINGFTTGRRGDLATIHGMNRPFLLLMATPLERAQHLQSSRH
                     RRALDTNYCFSSTEKNCCVRQLYIDFRKDLGWKWIHEPKGYHANFCLGPCPYIWSLDT
                     QYSKVLALYNQHNPGASAAPCCVPQALEPLPIVYYVGRKPKVEQLSNMIVRSCKCS"
     exon            1234..1394
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1512
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1590
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1738
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1892
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..2780
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2171..2176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="hexamer: ATTAAA"
     polyA_site      2189
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="major polyA site"
ORIGIN      
        1 gccgccgccg cccttcgcgc cctgggccat ctccctccca cctccctccg cggagcagcc
       61 agacagcgag ggccccggcc gggggcaggg gggacgcccc gtccggggca cccccccggc
      121 tctgagccgc ccgcggggcc ggcctcggcc cggagcggag gaaggagtcg ccgaggagca
      181 gcctgaggcc ccagagtctg agacgagccg ccgccgcccc cgccactgcg gggaggaggg
      241 ggaggaggag cgggaggagg gacgagctgg tcgggagaag aggaaaaaaa cttttgagac
      301 ttttccgttg ccgctgggag ccggaggcgc ggggacctct tggcgcgacg ctgccccgcg
      361 aggaggcagg acttggggac cccagaccgc ctccctttgc cgccggggac gcttgctccc
      421 tccctgcccc ctacacggcg tccctcaggc gcccccattc cggaccagcc ctcgggagtc
      481 gccgacccgg cctcccgcaa agacttttcc ccagacctcg ggcgcacccc ctgcacgccg
      541 ccttcatccc cggcctgtct cctgagcccc cgcgcatcct agaccctttc tcctccagga
      601 gacggatctc tctccgacct gccacagatc ccctattcaa gaccacccac cttctggtac
      661 cagatcgcgc ccatctaggt tatttccgtg ggatactgag acacccccgg tccaagcctc
      721 ccctccacca ctgcgccctt ctccctgagg acctcagctt tccctcgagg ccctcctacc
      781 ttttgccggg agacccccag cccctgcagg ggcggggcct ccccaccaca ccagccctgt
      841 tcgcgctctc ggcagtgccg gggggcgccg cctcccccat gccgccctcc gggctgcggc
      901 tgctgccgct gctgctaccg ctgctgtggc tactggtgct gacgcctggc cggccggccg
      961 cgggactatc cacctgcaag actatcgaca tggagctggt gaagcggaag cgcatcgagg
     1021 ccatccgcgg ccagatcctg tccaagctgc ggctcgccag ccccccgagc cagggggagg
     1081 tgccgcccgg cccgctgccc gaggccgtgc tcgccctgta caacagcacc cgcgaccggg
     1141 tggccgggga gagtgcagaa ccggagcccg agcctgaggc cgactactac gccaaggagg
     1201 tcacccgcgt gctaatggtg gaaacccaca acgaaatcta tgacaagttc aagcagagta
     1261 cacacagcat atatatgttc ttcaacacat cagagctccg agaagcggta cctgaacccg
     1321 tgttgctctc ccgggcagag ctgcgtctgc tgaggctcaa gttaaaagtg gagcagcacg
     1381 tggagctgta ccagaaatac agcaacaatt cctggcgata cctcagcaac cggctgctgg
     1441 cacccagcga ctcgccagag tggttatctt ttgatgtcac cggagttgtg cggcagtggt
     1501 tgagccgtgg aggggaaatt gagggctttc gccttagcgc ccactgctcc tgtgacagca
     1561 gggataacac actgcaagtg gacatcaacg ggttcactac cggccgccga ggtgacctgg
     1621 ccaccattca tggcatgaac cggcctttcc tgcttctcat ggccaccccg ctggagaggg
     1681 cccagcatct gcaaagctcc cggcaccgcc gagccctgga caccaactat tgcttcagct
     1741 ccacggagaa gaactgctgc gtgcggcagc tgtacattga cttccgcaag gacctcggct
     1801 ggaagtggat ccacgagccc aagggctacc atgccaactt ctgcctcggg ccctgcccct
     1861 acatttggag cctggacacg cagtacagca aggtcctggc cctgtacaac cagcataacc
     1921 cgggcgcctc ggcggcgccg tgctgcgtgc cgcaggcgct ggagccgctg cccatcgtgt
     1981 actacgtggg ccgcaagccc aaggtggagc agctgtccaa catgatcgtg cgctcctgca
     2041 agtgcagctg aggtcccgcc ccgccccgcc ccgccccggc aggcccggcc ccaccccgcc
     2101 ccgcccccgc tgccttgccc atgggggctg tatttaagga cacccgtgcc ccaagcccac
     2161 ctggggcccc attaaagatg gagagaggac tgcggatctc tgtgtcattg ggcgcctgcc
     2221 tggggtctcc atccctgacg ttcccccact cccactccct ctctctccct ctctgcctcc
     2281 tcctgcctgt ctgcactatt cctttgcccg gcatcaaggc acaggggacc agtggggaac
     2341 actactgtag ttagatctat ttattgagca ccttgggcac tgttgaagtg ccttacatta
     2401 atgaactcat tcagtcacca tagcaacact ctgagatgca gggactctga taacacccat
     2461 tttaaaggtg aggaaacaag cccagagagg ttaagggagg agttcctgcc caccaggaac
     2521 ctgctttagt gggggatagt gaagaagaca ataaaagata gtagttcagg ccaggcgggg
     2581 tggctcacgc ctgtaatcct agcacttttg ggaggcagag atgggaggat tacttgaatc
     2641 caggcatttg agaccagcct gggtaacata gtgagaccct atctctacaa aacactttta
     2701 aaaaatgtac acctgtggtc ccagctactc tggaggctaa ggtgggagga tcacttgatc
     2761 ctgggaggtc aaggctgcag
//
