LOCUS       NM_003239               3431 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens transforming growth factor beta 3 (TGFB3), transcript
            variant 1, mRNA.
ACCESSION   NM_003239
VERSION     NM_003239.5
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 3431)
  AUTHORS   Levitte,S., Khan,I., Iyahen,V., Ziai,J., Gubatan,J., Sheng,R.,
            Glickstein,S.B., Sun,T., Park,K.T., McBride,J. and Keir,M.
  TITLE     Differential expression of small bowel TGFbeta1 and TGFbeta3
            characterizes intestinal strictures in patients with fibrostenotic
            Crohn's disease
  JOURNAL   Histochem Cell Biol 162 (3), 225-230 (2024)
   PUBMED   38705911
  REMARK    GeneRIF: Differential expression of small bowel TGFbeta1 and
            TGFbeta3 characterizes intestinal strictures in patients with
            fibrostenotic Crohn's disease.
REFERENCE   2  (bases 1 to 3431)
  AUTHORS   Yoshimoto,S., Yada,N., Ishikawa,A., Kawano,K., Matsuo,K., Hiraki,A.
            and Okamura,K.
  TITLE     TGF-beta3 from fibroblasts promotes necrotising sialometaplasia by
            suppressing salivary gland cell proliferation and inducing squamous
            metaplasia
  JOURNAL   J Pathol 263 (3), 338-346 (2024)
   PUBMED   38594209
  REMARK    GeneRIF: TGF-beta3 from fibroblasts promotes necrotising
            sialometaplasia by suppressing salivary gland cell proliferation
            and inducing squamous metaplasia.
REFERENCE   3  (bases 1 to 3431)
  AUTHORS   Gao,N. and Yu,F.S.
  TITLE     Lack of Elevated Expression of TGFbeta3 Contributes to the Delay of
            Epithelial Wound Healing in Diabetic Corneas
  JOURNAL   Invest Ophthalmol Vis Sci 65 (3), 35 (2024)
   PUBMED   38546583
  REMARK    GeneRIF: Lack of Elevated Expression of TGFbeta3 Contributes to the
            Delay of Epithelial Wound Healing in Diabetic Corneas.
REFERENCE   4  (bases 1 to 3431)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   5  (bases 1 to 3431)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
REFERENCE   6  (bases 1 to 3431)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   7  (bases 1 to 3431)
  AUTHORS   Wrana,J.L., Attisano,L., Carcamo,J., Zentella,A., Doody,J.,
            Laiho,M., Wang,X.F. and Massague,J.
  TITLE     TGF beta signals through a heteromeric protein kinase receptor
            complex
  JOURNAL   Cell 71 (6), 1003-1014 (1992)
   PUBMED   1333888
REFERENCE   8  (bases 1 to 3431)
  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   9  (bases 1 to 3431)
  AUTHORS   Arrick,B.A., Lee,A.L., Grendell,R.L. and Derynck,R.
  TITLE     Inhibition of translation of transforming growth factor-beta 3 mRNA
            by its 5' untranslated region
  JOURNAL   Mol Cell Biol 11 (9), 4306-4313 (1991)
   PUBMED   1875922
REFERENCE   10 (bases 1 to 3431)
  AUTHORS   ten Dijke,P., Hansen,P., Iwata,K.K., Pieler,C. and Foulkes,J.G.
  TITLE     Identification of another member of the transforming growth factor
            type beta gene family
  JOURNAL   Proc Natl Acad Sci U S A 85 (13), 4715-4719 (1988)
   PUBMED   3164476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF107885.2 and J03241.1.
            
            On Feb 14, 2020 this sequence version replaced NM_003239.4.
            
            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 TGF-beta family members. This protein
            is involved in embryogenesis and cell differentiation, and may play
            a role in wound healing. Mutations in this gene are a cause of
            aortic aneurysms and dissections, as well as familial
            arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq,
            Aug 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            2 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 :: SRR14038196.2598394.1,
                                           SRR14038194.2764965.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000238682.8/ ENSP00000238682.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            regulatory uORF        :: PMID: 1875922
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-840               AF107885.2         163637-164476       c
            841-2822            J03241.1           1-1982
            2823-3431           AF107885.2         140578-141186       c
FEATURES             Location/Qualifiers
     source          1..3431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..3431
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /note="transforming growth factor beta 3"
                     /db_xref="GeneID:7043"
                     /db_xref="HGNC:HGNC:11769"
                     /db_xref="MIM:190230"
     exon            1..1454
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      15..161
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation
                     assay[1875922]"
     regulatory      111..161
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      257..292
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      311..385
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      356..385
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      382..417
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      453..554
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      457..504
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      651..674
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      863..943
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     regulatory      967..1233
                     /regulatory_class="uORF"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /experiment="EXISTENCE:in vitro translation assay evidence
                     [ECO:0001072][PMID:1875922]"
                     /note="regulatory uORF"
     CDS             1103..2341
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; prepro-transforming growth factor beta-3;
                     transforming growth factor beta-3 proprotein"
                     /codon_start=1
                     /product="transforming growth factor beta-3 proprotein
                     isoform 1 preproprotein"
                     /protein_id="NP_003230.1"
                     /db_xref="CCDS:CCDS9846.1"
                     /db_xref="GeneID:7043"
                     /db_xref="HGNC:HGNC:11769"
                     /db_xref="MIM:190230"
                     /translation="MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIR
                     GQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYA
                     KEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPS
                     SKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESN
                     LGLEISIHCPCHTFQPNGDILENIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNP
                     HLILMMIPPHRLDNPGQGGQRKKRALDTNYCFRNLEENCCVRPLYIDFRQDLGWKWVH
                     EPKGYYANFCSGPCPYLRSADTTHSTVLGLYNTLNPEASASPCCVPQDLEPLTILYYV
                     GRTPKVEQLSNMVVKSCKCS"
     exon            1455..1618
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1748
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1856
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     exon            1857..2028
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     exon            2029..2182
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     exon            2183..3431
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3348..3353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /note="hexamer: AATAAA"
     polyA_site      3371
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
     regulatory      3407..3412
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /note="hexamer: AGTAAA"
     polyA_site      3431
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /note="major polyA site"
ORIGIN      
        1 agcagtgtgt gtgcatgtgt gtgtgtgtga gagagagagg gagaggagcg agagggagag
       61 ggagagggag agagagaaag ggagggaagc agagagtcaa gtccaaggga atgagcgaga
      121 gaggcagaga caggggaaga ggcgtgcgag agaaggaata acagctttcc ggagcaggcg
      181 tgccgtgaac tggcttctat tttattttat ttttttctcc tttttatttt ttaaagagaa
      241 gcaggggaca gaagcaatgg ccgaggcaga agacaagccg aggtgctggt gaccctgggc
      301 gtctgagtgg atgattgggg ctgctgcgct cagaggcctg cctccctgcc ttccaatgca
      361 tataacccca caccccagcc aatgaagacg agaggcagcg tgaacaaagt catttagaaa
      421 gcccccgagg aagtgtaaac aaaagagaaa gcatgaatgg agtgcctgag agacaagtgt
      481 gtcctgtact gcccccacct ttagctgggc cagcaactgc ccggccctgc ttctccccac
      541 ctactcactg gtgatctttt tttttttact tttttttccc ttttcttttc cattctcttt
      601 tcttattttc tttcaaggca aggcaaggat tttgattttg ggacccagcc atggtccttc
      661 tgcttcttct ttaaaatacc cactttctcc ccatcgccaa gcggcgtttg gcaatatcag
      721 atatccactc tatttatttt tacctaagga aaaactccag ctcccttccc actcccagct
      781 gccttgccac ccctcccagc cctctgcttg ccctccacct ggcctgctgg gagtcagagc
      841 ccagcaaaac ctgtttagac acatggacaa gaatcccagc gctacaaggc acacagtccg
      901 cttcttcgtc ctcagggttg ccagcgcttc ctggaagtcc tgaagctctc gcagtgcagt
      961 gagttcatgc accttcttgc caagcctcag tctttgggat ctggggaggc cgcctggttt
     1021 tcctccctcc ttctgcacgt ctgctggggt ctcttcctct ccaggccttg ccgtccccct
     1081 ggcctctctt cccagctcac acatgaagat gcacttgcaa agggctctgg tggtcctggc
     1141 cctgctgaac tttgccacgg tcagcctctc tctgtccact tgcaccacct tggacttcgg
     1201 ccacatcaag aagaagaggg tggaagccat taggggacag atcttgagca agctcaggct
     1261 caccagcccc cctgagccaa cggtgatgac ccacgtcccc tatcaggtcc tggcccttta
     1321 caacagcacc cgggagctgc tggaggagat gcatggggag agggaggaag gctgcaccca
     1381 ggaaaacacc gagtcggaat actatgccaa agaaatccat aaattcgaca tgatccaggg
     1441 gctggcggag cacaacgaac tggctgtctg ccctaaagga attacctcca aggttttccg
     1501 cttcaatgtg tcctcagtgg agaaaaatag aaccaaccta ttccgagcag aattccgggt
     1561 cttgcgggtg cccaacccca gctctaagcg gaatgagcag aggatcgagc tcttccagat
     1621 ccttcggcca gatgagcaca ttgccaaaca gcgctatatc ggtggcaaga atctgcccac
     1681 acggggcact gccgagtggc tgtcctttga tgtcactgac actgtgcgtg agtggctgtt
     1741 gagaagagag tccaacttag gtctagaaat cagcattcac tgtccatgtc acacctttca
     1801 gcccaatgga gatatcctgg aaaacattca cgaggtgatg gaaatcaaat tcaaaggcgt
     1861 ggacaatgag gatgaccatg gccgtggaga tctggggcgc ctcaagaagc agaaggatca
     1921 ccacaaccct catctaatcc tcatgatgat tcccccacac cggctcgaca acccgggcca
     1981 ggggggtcag aggaagaagc gggctttgga caccaattac tgcttccgca acttggagga
     2041 gaactgctgt gtgcgccccc tctacattga cttccgacag gatctgggct ggaagtgggt
     2101 ccatgaacct aagggctact atgccaactt ctgctcaggc ccttgcccat acctccgcag
     2161 tgcagacaca acccacagca cggtgctggg actgtacaac actctgaacc ctgaagcatc
     2221 tgcctcgcct tgctgcgtgc cccaggacct ggagcccctg accatcctgt actatgttgg
     2281 gaggaccccc aaagtggagc agctctccaa catggtggtg aagtcttgta aatgtagctg
     2341 agaccccacg tgcgacagag agaggggaga gagaaccacc actgcctgac tgcccgctcc
     2401 tcgggaaaca cacaagcaac aaacctcact gagaggcctg gagcccacaa ccttcggctc
     2461 cgggcaaatg gctgagatgg aggtttcctt ttggaacatt tctttcttgc tggctctgag
     2521 aatcacggtg gtaaagaaag tgtgggtttg gttagaggaa ggctgaactc ttcagaacac
     2581 acagactttc tgtgacgcag acagagggga tggggataga ggaaagggat ggtaagttga
     2641 gatgttgtgt ggcaatggga tttgggctac cctaaaggga gaaggaaggg cagagaatgg
     2701 ctgggtcagg gccagactgg aagacacttc agatctgagg ttggatttgc tcattgctgt
     2761 accacatctg ctctagggaa tctggattat gttatacaag gcaagcattt tttttttttt
     2821 tttaaagaca ggttacgaag acaaagtccc agaattgtat ctcatactgt ctgggattaa
     2881 gggcaaatct attacttttg caaactgtcc tctacatcaa ttaacatcgt gggtcactac
     2941 agggagaaaa tccaggtcat gcagttcctg gcccatcaac tgtattgggc cttttggata
     3001 tgctgaacgc agaagaaagg gtggaaatca accctctcct gtctgccctc tgggtccctc
     3061 ctctcacctc tccctcgatc atatttcccc ttggacactt ggttagacgc cttccaggtc
     3121 aggatgcaca tttctggatt gtggttccat gcagccttgg ggcattatgg gttcttcccc
     3181 cacttcccct ccaagaccct gtgttcattt ggtgttcctg gaagcaggtg ctacaacatg
     3241 tgaggcattc ggggaagctg cacatgtgcc acacagtgac ttggccccag acgcatagac
     3301 tgaggtataa agacaagtat gaatattact ctcaaaatct ttgtataaat aaatattttt
     3361 ggggcatcct ggatgatttc atcttctgga atattgtttc tagaacagta aaagccttat
     3421 tctaaggtgt a
//
