LOCUS       NM_005585               3828 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1,
            mRNA.
ACCESSION   NM_005585
VERSION     NM_005585.5
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 3828)
  AUTHORS   Li,L., Lu,L., Xiao,Z., Lv,J., Huang,H., Wu,B., Zhao,T., Li,C.,
            Wang,W. and Wang,H.
  TITLE     Deamidation enables pathogenic SMAD6 variants to activate the BMP
            signaling pathway
  JOURNAL   Sci China Life Sci 67 (9), 1915-1927 (2024)
   PUBMED   38913236
  REMARK    GeneRIF: Deamidation enables pathogenic SMAD6 variants to activate
            the BMP signaling pathway.
REFERENCE   2  (bases 1 to 3828)
  AUTHORS   Luyckx,I., Walton,I.S., Boeckx,N., Van Schil,K., Pang,C., De
            Praeter,M., Lord,H., Watson,C.M., Bonthron,D.T., Van Laer,L.,
            Wilkie,A.O.M. and Loeys,B.
  TITLE     Homozygous SMAD6 variants in two unrelated patients with
            craniosynostosis and radioulnar synostosis
  JOURNAL   J Med Genet 61 (4), 363-368 (2024)
   PUBMED   38290823
  REMARK    GeneRIF: Homozygous SMAD6 variants in two unrelated patients with
            craniosynostosis and radioulnar synostosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3828)
  AUTHORS   Kulikauskas,M.R., Oatley,M., Yu,T., Liu,Z., Matsumura,L.,
            Kidder,E., Ruter,D. and Bautch,V.L.
  TITLE     Endothelial cell SMAD6 balances Alk1 function to regulate adherens
            junctions and hepatic vascular development
  JOURNAL   Development 150 (21) (2023)
   PUBMED   37787089
  REMARK    GeneRIF: Endothelial cell SMAD6 balances Alk1 function to regulate
            adherens junctions and hepatic vascular development.
REFERENCE   4  (bases 1 to 3828)
  AUTHORS   Huang,W., Wu,Y., Zhao,Y., Gan,X., Zhang,B., Cen,X., Huang,X. and
            Zhao,Z.
  TITLE     Down-regulation of hsa-circ-0107593 promotes osteogenic
            differentiation of hADSCs via miR-20a-5p/SMAD6 signaling
  JOURNAL   Oral Dis 29 (8), 3447-3459 (2023)
   PUBMED   35957556
  REMARK    GeneRIF: Down-regulation of hsa-circ-0107593 promotes osteogenic
            differentiation of hADSCs via miR-20a-5p/SMAD6 signaling.
REFERENCE   5  (bases 1 to 3828)
  AUTHORS   Konrad,L., Scheiber,J.A., Bergmann,M., Eickelberg,O. and Hofmann,R.
  TITLE     Identification of a new human Smad6 splice variant
  JOURNAL   Andrologia 40 (6), 358-363 (2008)
   PUBMED   19032685
  REMARK    GeneRIF: Splice variant Smad6B, in human prostatic and rodent
            testicular cell lines, exhibits a truncated C-terminus lacking the
            entire MH-2 domain and most parts of the linker region.
REFERENCE   6  (bases 1 to 3828)
  AUTHORS   Afrakhte,M., Moren,A., Jossan,S., Itoh,S., Sampath,K.,
            Westermark,B., Heldin,C.H., Heldin,N.E. and ten Dijke,P.
  TITLE     Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family
            members
  JOURNAL   Biochem Biophys Res Commun 249 (2), 505-511 (1998)
   PUBMED   9712726
REFERENCE   7  (bases 1 to 3828)
  AUTHORS   Hata,A., Lagna,G., Massague,J. and Hemmati-Brivanlou,A.
  TITLE     Smad6 inhibits BMP/Smad1 signaling by specifically competing with
            the Smad4 tumor suppressor
  JOURNAL   Genes Dev 12 (2), 186-197 (1998)
   PUBMED   9436979
REFERENCE   8  (bases 1 to 3828)
  AUTHORS   Massague,J.
  TITLE     TGF-beta signal transduction
  JOURNAL   Annu Rev Biochem 67, 753-791 (1998)
   PUBMED   9759503
  REMARK    Review article
REFERENCE   9  (bases 1 to 3828)
  AUTHORS   Topper,J.N., Cai,J., Qiu,Y., Anderson,K.R., Xu,Y.Y., Deeds,J.D.,
            Feeley,R., Gimeno,C.J., Woolf,E.A., Tayber,O., Mays,G.G.,
            Sampson,B.A., Schoen,F.J., Gimbrone,M.A. Jr. and Falb,D.
  TITLE     Vascular MADs: two novel MAD-related genes selectively inducible by
            flow in human vascular endothelium
  JOURNAL   Proc Natl Acad Sci U S A 94 (17), 9314-9319 (1997)
   PUBMED   9256479
REFERENCE   10 (bases 1 to 3828)
  AUTHORS   Riggins,G.J., Thiagalingam,S., Rozenblum,E., Weinstein,C.L.,
            Kern,S.E., Hamilton,S.R., Willson,J.K., Markowitz,S.D.,
            Kinzler,K.W. and Vogelstein,B.
  TITLE     Mad-related genes in the human
  JOURNAL   Nat Genet 13 (3), 347-349 (1996)
   PUBMED   8673135
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013564.7, AF035528.1,
            CA406301.1, CN314455.1, BC029288.1, BC012986.2, U59914.1,
            CN314453.1 and AC110048.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005585.4.
            
            Summary: The protein encoded by this gene belongs to the SMAD
            family of proteins, which are related to Drosophila 'mothers
            against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins
            are signal transducers and transcriptional modulators that mediate
            multiple signaling pathways. This protein functions in the negative
            regulation of BMP and TGF-beta/activin-signalling. Multiple
            transcript variants have been found for this gene.[provided by
            RefSeq, Sep 2014].
            
            Transcript Variant: This variant (1) encodes the supported protein.
            
            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 :: AF035528.1, BC012986.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288840.10/ ENSP00000288840.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-100               AC013564.7         57108-57207         c
            101-256             AF035528.1         18-173
            257-386             CA406301.1         135-264
            387-754             CN314455.1         70-437
            755-970             BC029288.1         470-685
            971-2663            BC012986.2         1-1693
            2664-2967           U59914.1           970-1273
            2968-2979           CN314453.1         352-363
            2980-3828           AC110048.2         122875-123723       c
FEATURES             Location/Qualifiers
     source          1..3828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..3828
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /note="SMAD family member 6"
                     /db_xref="GeneID:4091"
                     /db_xref="HGNC:HGNC:6772"
                     /db_xref="MIM:602931"
     exon            1..1840
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /inference="alignment:Splign:2.1.0"
     CDS             1024..2514
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /note="MAD homolog 6; SMAD, mothers against DPP homolog 6;
                     mothers against decapentaplegic, drosophila, homolog of,
                     6"
                     /codon_start=1
                     /product="mothers against decapentaplegic homolog 6"
                     /protein_id="NP_005576.3"
                     /db_xref="CCDS:CCDS10221.1"
                     /db_xref="GeneID:4091"
                     /db_xref="HGNC:HGNC:6772"
                     /db_xref="MIM:602931"
                     /translation="MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAE
                     PAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGS
                     SLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSRE
                     ARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQ
                     PAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPP
                     PPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSV
                     AYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGIL
                     LSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAP
                     EPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR"
     exon            1841..1897
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /inference="alignment:Splign:2.1.0"
     exon            1898..1975
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..3828
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2948..2953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /note="hexamer: AATAAA"
     polyA_site      2967
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /note="major polyA site"
     regulatory      3808..3813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
                     /note="hexamer: AATAAA"
     polyA_site      3828
                     /gene="SMAD6"
                     /gene_synonym="AOVD2; HsT17432; MADH6; MADH7"
ORIGIN      
        1 atatgatggg aggcagccaa tgactccgcg gcgctcctcc gggggccctc agtgtgcgtt
       61 tgaggagaac aaaaaagaga gagagagccg agcgggggag cgatcgaggg agctgagccg
      121 agagaaagag ccgccgggcg ctgcctcgcc agacctcgct gggaccccgg ggccaccggg
      181 aggcactttt gtggaggggg gagggggggc gacctcggca gcctcggcgc acgaagcgtc
      241 cgagggcagc gtggggcggg ctgcgacctc tgcatcggtg gactgcattt ttaattaagg
      301 attcccagca gctctttggg atttttacag cttccactca tgtgttgaca cccgcgtcca
      361 ggagaaactc gctccaagtg catctagcgc ctgggacctg agacggcgtt ggcctttcgt
      421 gcatgcaaat ccagggattt aggttttgtt tgggatttcc ttttctttct ttcctttttt
      481 ttttcttttt gcagggagta agaagggagc tgggggtatc aacaagcctg cctttcggat
      541 cctgcgggaa aagcccatgt agttaagcgc tttggtttaa aaaaaaggca aggtaaaggc
      601 agggctttcc agacacattt aggggttcgc gcgagcgctt tgtgctcatg gaccagccgc
      661 acaacttttg aaggctcgcc ggcccatgtg gggtctttct ggcggcgcgc cgcctgcagc
      721 ccccctaaag cgcgggggct ggagttgttg agcagccccg ccgctgtggt ccatgtagcc
      781 gctggccgcg cgcggactgc ggctcggcgt gcgcgtgttc ccggccgtcc cgcctcggcg
      841 agctccctca tgttgtcgcc ctgcggcgcc ccttcgacga caggctgtgc gcggtctgca
      901 cggcgctccg cggcggagct tcatgtgggg ctgcgacccg cgcagccggc gcctcgctga
      961 gggaacggac ccccggtaac cggagaccgc ctccccccca cccctggcgc caaaggatat
     1021 cgtatgttca ggtccaaacg ctcggggctg gtgcggcgac tttggcgaag tcgtgtggtc
     1081 cccgaccggg aggaaggcgg cagcggcggc ggcggtggcg gcgacgagga tgggagcttg
     1141 ggcagccgag ctgagccggc cccgcgggca agagagggcg gaggctgcgg ccgctccgaa
     1201 gtccgcccgg tagccccgcg gcggccccgg gacgcagtgg gacagcgagg cgcccagggc
     1261 gcggggaggc gccggcgcgc agggggcccc ccgaggccca tgtcggagcc aggggccggc
     1321 gctgggagct ccctgctgga cgtggcggag ccgggaggcc cgggctggct gcccgagagt
     1381 gactgcgaga cggtgacctg ctgtctcttt tcggagcggg acgccgccgg cgcgccccgg
     1441 gacgccagcg accccctggc cggggcggcc ctggagccgg cgggcggcgg gcggagtcgc
     1501 gaagcgcgct cgcggctgct gctgctggag caggaactca aaaccgtcac gtactcgctg
     1561 ctgaagcggc tcaaggagcg ctcgctggac acgctgctgg aggcggtgga gtcccgcggc
     1621 ggcgtgccgg gcggctgcgt gctggtgccg cgcgccgacc tccgcctggg cggccagccc
     1681 gcgccgccgc agctgctgct cggccgcctc tttcgctggc ccgacctgca gcacgccgtg
     1741 gagctgaagc ccctgtgcgg ctgccacagc ttcgccgccg ccgccgacgg ccctaccgtg
     1801 tgctgcaacc cctaccactt cagccggctc tgcgggcccg aatctccgcc acctccctac
     1861 tctcggctgt ctcctcgcga cgagtacaag ccactggatc tgtccgattc cacattgtct
     1921 tacactgaaa cggaggctac caactccctc atcactgctc cgggtgaatt ctcagacgcc
     1981 agcatgtctc cggacgccac caagccgagc cactggtgca gcgtggcgta ctgggagcac
     2041 cggacgcgcg tgggccgcct ctatgcggtg tacgaccagg ccgtcagcat cttctacgac
     2101 ctacctcagg gcagcggctt ctgcctgggc cagctcaacc tggagcagcg cagcgagtcg
     2161 gtgcggcgaa cgcgcagcaa gatcggcttc ggcatcctgc tcagcaagga gcccgacggc
     2221 gtgtgggcct acaaccgcgg cgagcacccc atcttcgtca actccccgac gctggacgcg
     2281 cccggcggcc gcgccctggt cgtgcgcaag gtgccccccg gctactccat caaggtgttc
     2341 gacttcgagc gctcgggcct gcagcacgcg cccgagcccg acgccgccga cggcccctac
     2401 gaccccaaca gcgtccgcat cagcttcgcc aagggctggg ggccctgcta ctcccggcag
     2461 ttcatcacct cctgcccctg ctggctggag atcctcctca acaaccccag atagtggcgg
     2521 ccccggcggg aggggcgggt gggaggccgc ggccaccgcc acctgccggc ctcgagaggg
     2581 gccgatgccc agagacacag cccccacgga caaaaccccc cagatatcat ctacctagat
     2641 ttaatataaa gttttatata ttatatggaa atatatatta tacttgtaat tatggagtca
     2701 tttttacaat gtaattattt atgtatggtg caatgtgtgt atatggacaa aacaagaaag
     2761 acgcactttg gcttataatt ctttcaatac agatatattt tctttctctt cctccttcct
     2821 cttccttact ttttatatat atatataaag aaaatgatac agcagagcta ggtggaaaag
     2881 cctgggtttg gtgtatggtt tttgagatat taatgcccag acaaaaagct aataccagtc
     2941 actcgataat aaagtattcg cattatagtt ttttttaaac tgtcttcttt ttacaaagag
     3001 gggcaggtag ggcttcagcg gatttctgac ccatcatgta ccttgaaact tgacctcagt
     3061 tttcaagttt tacttttatt ggataaagac agaacaaatt gaaaagggag gaaagtcaca
     3121 tttactctta agtaaaccag agaaagttct gttgttcctt cctgcccatg gctatggggt
     3181 gtccagtgga tagggatggc ggtggggaaa agaatacact ggccatttat cctggacaag
     3241 ctcttccagt ctgatggagg aggttcatgc cctagcctag aaaggcccag gtccatgccc
     3301 cccatctttg agttatgagc aagctaaaag aagacactat ttctcaccat tttgtggaaa
     3361 tggcctgggg aacaaagact gaaatgggcc ttgagcccac ctgctacctt gcagagaacc
     3421 atctcgagcc ccgtagatct ttttaggacc tccacaggct atttcccacc ccccagccaa
     3481 aaatagctca gaatctgccc atccagggct gtattaatga tttatgtaaa ggcagatggt
     3541 ttatttctac tttgtgaaag ggaaaagttg aggttctgga aggttaaatg atttgctcat
     3601 gagacaaaat caaggttaga agttacatgg aattgtagga ccagagccat atcattagat
     3661 cagctttctg aagaatattc tcaaaaaaag aaagtctcct tggccagata actaagagga
     3721 atgtttcatt gtatatcttt tttcttggag atttatatta acatattaag tgctctgaga
     3781 agtcctgtgt attatctctt gctgcataat aaattatccc caaactta
//
