LOCUS       NM_000358               2712 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens transforming growth factor beta induced (TGFBI), mRNA.
ACCESSION   NM_000358
VERSION     NM_000358.3
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 2712)
  AUTHORS   Pan,T., Liu,F., Hao,X., Wang,S., Wasi,M., Song,J.H., Lewis,V.O.,
            Lin,P.P., Moon,B., Bird,J.E., Panaretakis,T., Lin,S.H., Wu,D.,
            Farach-Carson,M.C., Wang,L., Zhang,N., An,Z., Zhang,X.H. and
            Satcher,R.L.
  TITLE     BIGH3 mediates apoptosis and gap junction failure in osteocytes
            during renal cell carcinoma bone metastasis progression
  JOURNAL   Cancer Lett 596, 217009 (2024)
   PUBMED   38849015
  REMARK    GeneRIF: BIGH3 mediates apoptosis and gap junction failure in
            osteocytes during renal cell carcinoma bone metastasis progression.
REFERENCE   2  (bases 1 to 2712)
  AUTHORS   Wang,H., Xu,Y.H. and Guo,Y.
  TITLE     Novel prognostic marker TGFBI affects the migration and invasion
            function of ovarian cancer cells and activates the integrin
            alphavbeta3-PI3K-Akt signaling pathway
  JOURNAL   J Ovarian Res 17 (1), 50 (2024)
   PUBMED   38395907
  REMARK    GeneRIF: Novel prognostic marker TGFBI affects the migration and
            invasion function of ovarian cancer cells and activates the
            integrin alphavbeta3-PI3K-Akt signaling pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2712)
  AUTHORS   Ma,S., Wang,J., Cui,Z., Yang,X., Cui,X., Li,X. and Zhao,L.
  TITLE     HIF-2alpha-dependent TGFBI promotes ovarian cancer chemoresistance
            by activating PI3K/Akt pathway to inhibit apoptosis and facilitate
            DNA repair process
  JOURNAL   Sci Rep 14 (1), 3870 (2024)
   PUBMED   38365849
  REMARK    GeneRIF: HIF-2alpha-dependent TGFBI promotes ovarian cancer
            chemoresistance by activating PI3K/Akt pathway to inhibit apoptosis
            and facilitate DNA repair process.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2712)
  AUTHORS   Gupta,V., Panigrahi,A., Somarajan,B.I., Gupta,S., Tripathy,K.,
            Singh,A., Sharma,A., Tandon,R., Pradhan,D., Sharma,A., Kushwaha,T.
            and Inampudi,K.K.
  TITLE     Distribution of TGFBI variants in patients with early onset
            glaucoma
  JOURNAL   Mol Vis 29, 365-377 (2023)
   PUBMED   38577561
  REMARK    GeneRIF: Distribution of TGFBI variants in patients with early
            onset glaucoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2712)
  AUTHORS   Li,M., Yang,E., Li,Y., Geng,Y., Wu,H. and Zhang,D.
  TITLE     Expression of TGFBI in infantile hemangioma tissues and its effect
            on the biological characteristics of hemangioma endothelial cells
  JOURNAL   Hua Xi Kou Qiang Yi Xue Za Zhi 41 (1), 29-36 (2023)
   PUBMED   38596938
  REMARK    GeneRIF: Expression of TGFBI in infantile hemangioma tissues and
            its effect on the biological characteristics of hemangioma
            endothelial cells.
REFERENCE   6  (bases 1 to 2712)
  AUTHORS   LeBaron,R.G., Bezverkov,K.I., Zimber,M.P., Pavelec,R., Skonier,J.
            and Purchio,A.F.
  TITLE     Beta IG-H3, a novel secretory protein inducible by transforming
            growth factor-beta, is present in normal skin and promotes the
            adhesion and spreading of dermal fibroblasts in vitro
  JOURNAL   J Invest Dermatol 104 (5), 844-849 (1995)
   PUBMED   7738366
REFERENCE   7  (bases 1 to 2712)
  AUTHORS   Escribano,J., Hernando,N., Ghosh,S., Crabb,J. and Coca-Prados,M.
  TITLE     cDNA from human ocular ciliary epithelium homologous to beta ig-h3
            is preferentially expressed as an extracellular protein in the
            corneal epithelium
  JOURNAL   J Cell Physiol 160 (3), 511-521 (1994)
   PUBMED   8077289
REFERENCE   8  (bases 1 to 2712)
  AUTHORS   Skonier,J., Bennett,K., Rothwell,V., Kosowski,S., Plowman,G.,
            Wallace,P., Edelhoff,S., Disteche,C., Neubauer,M., Marquardt,H. et
            al.
  TITLE     beta ig-h3: a transforming growth factor-beta-responsive gene
            encoding a secreted protein that inhibits cell attachment in vitro
            and suppresses the growth of CHO cells in nude mice
  JOURNAL   DNA Cell Biol 13 (6), 571-584 (1994)
   PUBMED   8024701
REFERENCE   9  (bases 1 to 2712)
  AUTHORS   Stone,E.M., Mathers,W.D., Rosenwasser,G.O., Holland,E.J.,
            Folberg,R., Krachmer,J.H., Nichols,B.E., Gorevic,P.D., Taylor,C.M.,
            Streb,L.M. et al.
  TITLE     Three autosomal dominant corneal dystrophies map to chromosome 5q
  JOURNAL   Nat Genet 6 (1), 47-51 (1994)
   PUBMED   8136834
REFERENCE   10 (bases 1 to 2712)
  AUTHORS   Skonier,J., Neubauer,M., Madisen,L., Bennett,K., Plowman,G.D. and
            Purchio,A.F.
  TITLE     cDNA cloning and sequence analysis of beta ig-h3, a novel gene
            induced in a human adenocarcinoma cell line after treatment with
            transforming growth factor-beta
  JOURNAL   DNA Cell Biol 11 (7), 511-522 (1992)
   PUBMED   1388724
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA051240.1, BC000097.2 and
            M77349.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000358.2.
            
            Summary: This gene encodes an RGD-containing protein that binds to
            type I, II and IV collagens. The RGD motif is found in many
            extracellular matrix proteins modulating cell adhesion and serves
            as a ligand recognition sequence for several integrins. This
            protein plays a role in cell-collagen interactions and may be
            involved in endochondrial bone formation in cartilage. The protein
            is induced by transforming growth factor-beta and acts to inhibit
            cell adhesion. Mutations in this gene are associated with multiple
            types of corneal dystrophy. [provided by RefSeq, Jul 2008].
            
            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 :: BC000097.2, AK094581.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000442011.7/ ENSP00000416330.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA051240.1         94-107
            15-1048             BC000097.2         1-1034
            1049-2712           M77349.1           1028-2691
FEATURES             Location/Qualifiers
     source          1..2712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..2712
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="transforming growth factor beta induced"
                     /db_xref="GeneID:7045"
                     /db_xref="HGNC:HGNC:11771"
                     /db_xref="MIM:601692"
     exon            1..202
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..2120
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="transforming growth factor-beta-induced protein
                     ig-h3; betaig-h3; RGD-containing collagen-associated
                     protein; kerato-epithelin; RGD-CAP; beta ig-h3;
                     transforming growth factor, beta-induced, 68kD;
                     transforming growth factor beta-induced 68kDa"
                     /codon_start=1
                     /product="transforming growth factor-beta-induced protein
                     ig-h3 precursor"
                     /protein_id="NP_000349.1"
                     /db_xref="CCDS:CCDS47266.1"
                     /db_xref="GeneID:7045"
                     /db_xref="HGNC:HGNC:11771"
                     /db_xref="MIM:601692"
                     /translation="MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQH
                     GPNVCAVQKVIGTNRKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALP
                     LSNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLV
                     SNVNIELLNALRYHMVGRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLL
                     KADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYT
                     LLAPTNEAFEKIPSETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGLSVETLEGTT
                     LEVGCSGDMLTINGKAIISNKDILATNGVIHYIDELLIPDSAKTLFELAAESDVSTAI
                     DLFRQAGLGNHLSGSERLTLLAPLNSVFKDGTPPIDAHTRNLLRNHIIKDQLASKYLY
                     HGQTLETLGGKKLRVFVYRNSLCIENSCIAAHDKRGRYGTLFTMDRVLTPPMGTVMDV
                     LKGDNRFSMLVAAIQSAGLTETLNREGVYTVFAPTNEAFRALPPRERSRLLGDAKELA
                     NILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSLKNNVVSVNKEPVAEPDIMATNGV
                     VHVITNVLQPPANRPQERGDELADSALEIFKQASAFSRASQRSVRLAPVYQKLLERMK
                     H"
     exon            203..301
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            302..366
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            367..527
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            528..692
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            693..839
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            840..981
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1194
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1332
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1478
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1615
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1746
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1871
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..1974
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1975..2054
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2055..2079
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2080..2712
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2693..2698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="hexamer: AATAAA"
     polyA_site      2712
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="major polyA site"
ORIGIN      
        1 ctcacttccc tggagccgcc cgcttgcccg tcggtcgcta gctcgctcgg tgcgcgtcgt
       61 cccgctccat ggcgctcttc gtgcggctgc tggctctcgc cctggctctg gccctgggcc
      121 ccgccgcgac cctggcgggt cccgccaagt cgccctacca gctggtgctg cagcacagca
      181 ggctccgggg ccgccagcac ggccccaacg tgtgtgctgt gcagaaggtt attggcacta
      241 ataggaagta cttcaccaac tgcaagcagt ggtaccaaag gaaaatctgt ggcaaatcaa
      301 cagtcatcag ctacgagtgc tgtcctggat atgaaaaggt ccctggggag aagggctgtc
      361 cagcagccct accactctca aacctttacg agaccctggg agtcgttgga tccaccacca
      421 ctcagctgta cacggaccgc acggagaagc tgaggcctga gatggagggg cccggcagct
      481 tcaccatctt cgcccctagc aacgaggcct gggcctcctt gccagctgaa gtgctggact
      541 ccctggtcag caatgtcaac attgagctgc tcaatgccct ccgctaccat atggtgggca
      601 ggcgagtcct gactgatgag ctgaaacacg gcatgaccct cacctctatg taccagaatt
      661 ccaacatcca gatccaccac tatcctaatg ggattgtaac tgtgaactgt gcccggctgc
      721 tgaaagccga ccaccatgca accaacgggg tggtgcacct catcgataag gtcatctcca
      781 ccatcaccaa caacatccag cagatcattg agatcgagga cacctttgag acccttcggg
      841 ctgctgtggc tgcatcaggg ctcaacacga tgcttgaagg taacggccag tacacgcttt
      901 tggccccgac caatgaggcc ttcgagaaga tccctagtga gactttgaac cgtatcctgg
      961 gcgacccaga agccctgaga gacctgctga acaaccacat cttgaagtca gctatgtgtg
     1021 ctgaagccat cgttgcgggg ctgtctgtag agaccctgga gggcacgaca ctggaggtgg
     1081 gctgcagcgg ggacatgctc actatcaacg ggaaggcgat catctccaat aaagacatcc
     1141 tagccaccaa cggggtgatc cactacattg atgagctact catcccagac tcagccaaga
     1201 cactatttga attggctgca gagtctgatg tgtccacagc cattgacctt ttcagacaag
     1261 ccggcctcgg caatcatctc tctggaagtg agcggttgac cctcctggct cccctgaatt
     1321 ctgtattcaa agatggaacc cctccaattg atgcccatac aaggaatttg cttcggaacc
     1381 acataattaa agaccagctg gcctctaagt atctgtacca tggacagacc ctggaaactc
     1441 tgggcggcaa aaaactgaga gtttttgttt atcgtaatag cctctgcatt gagaacagct
     1501 gcatcgcggc ccacgacaag agggggaggt acgggaccct gttcacgatg gaccgggtgc
     1561 tgaccccccc aatggggact gtcatggatg tcctgaaggg agacaatcgc tttagcatgc
     1621 tggtagctgc catccagtct gcaggactga cggagaccct caaccgggaa ggagtctaca
     1681 cagtctttgc tcccacaaat gaagccttcc gagccctgcc accaagagaa cggagcagac
     1741 tcttgggaga tgccaaggaa cttgccaaca tcctgaaata ccacattggt gatgaaatcc
     1801 tggttagcgg aggcatcggg gccctggtgc ggctaaagtc tctccaaggt gacaagctgg
     1861 aagtcagctt gaaaaacaat gtggtgagtg tcaacaagga gcctgttgcc gagcctgaca
     1921 tcatggccac aaatggcgtg gtccatgtca tcaccaatgt tctgcagcct ccagccaaca
     1981 gacctcagga aagaggggat gaacttgcag actctgcgct tgagatcttc aaacaagcat
     2041 cagcgttttc cagggcttcc cagaggtctg tgcgactagc ccctgtctat caaaagttat
     2101 tagagaggat gaagcattag cttgaagcac tacaggagga atgcaccacg gcagctctcc
     2161 gccaatttct ctcagatttc cacagagact gtttgaatgt tttcaaaacc aagtatcaca
     2221 ctttaatgta catgggccgc accataatga gatgtgagcc ttgtgcatgt gggggaggag
     2281 ggagagagat gtacttttta aatcatgttc cccctaaaca tggctgttaa cccactgcat
     2341 gcagaaactt ggatgtcact gcctgacatt cacttccaga gaggacctat cccaaatgtg
     2401 gaattgactg cctatgccaa gtccctggaa aaggagcttc agtattgtgg ggctcataaa
     2461 acatgaatca agcaatccag cctcatggga agtcctggca cagtttttgt aaagcccttg
     2521 cacagctgga gaaatggcat cattataagc tatgagttga aatgttctgt caaatgtgtc
     2581 tcacatctac acgtggcttg gaggctttta tggggccctg tccaggtaga aaagaaatgg
     2641 tatgtagagc ttagatttcc ctattgtgac agagccatgg tgtgtttgta ataataaaac
     2701 caaagaaaca ta
//
