LOCUS       NM_001329906            1879 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens nodal growth differentiation factor (NODAL),
            transcript variant 2, mRNA.
ACCESSION   NM_001329906
VERSION     NM_001329906.2
KEYWORDS    RefSeq.
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 1879)
  AUTHORS   Dardas,Z., Fatih,J.M., Jolly,A., Dawood,M., Du,H., Grochowski,C.M.,
            Jones,E.G., Jhangiani,S.N., Wehrens,X.H.T., Liu,P., Bi,W.,
            Boerwinkle,E., Posey,J.E., Muzny,D.M., Gibbs,R.A., Lupski,J.R.,
            Coban-Akdemir,Z. and Morris,S.A.
  TITLE     NODAL variants are associated with a continuum of laterality
            defects from simple D-transposition of the great arteries to
            heterotaxy
  JOURNAL   Genome Med 16 (1), 53 (2024)
   PUBMED   38570875
  REMARK    GeneRIF: NODAL variants are associated with a continuum of
            laterality defects from simple D-transposition of the great
            arteries to heterotaxy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1879)
  AUTHORS   Coda,D.M., Patel,H., Gori,I., Gaarenstroom,T.E., Song,O.R.,
            Howell,M. and Hill,C.S.
  TITLE     A network of transcription factors governs the dynamics of
            NODAL/Activin transcriptional responses
  JOURNAL   J Cell Sci 135 (8) (2022)
   PUBMED   35302162
  REMARK    GeneRIF: A network of transcription factors governs the dynamics of
            NODAL/Activin transcriptional responses.
REFERENCE   3  (bases 1 to 1879)
  AUTHORS   Liu,L., Nemashkalo,A., Rezende,L., Jung,J.Y., Chhabra,S.,
            Guerra,M.C., Heemskerk,I. and Warmflash,A.
  TITLE     Nodal is a short-range morphogen with activity that spreads through
            a relay mechanism in human gastruloids
  JOURNAL   Nat Commun 13 (1), 497 (2022)
   PUBMED   35079017
  REMARK    GeneRIF: Nodal is a short-range morphogen with activity that
            spreads through a relay mechanism in human gastruloids.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1879)
  AUTHORS   Untiveros,G., Dezi,L., Gillette,M., Sidor,J. and Strizzi,L.
  TITLE     Normal Skin Cells Increase Aggressiveness of Cutaneous Melanoma by
            Promoting Epithelial-to-Mesenchymal Transition via Nodal and Wnt
            Activity
  JOURNAL   Int J Mol Sci 22 (21), 11719 (2021)
   PUBMED   34769150
  REMARK    GeneRIF: Normal Skin Cells Increase Aggressiveness of Cutaneous
            Melanoma by Promoting Epithelial-to-Mesenchymal Transition via
            Nodal and Wnt Activity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1879)
  AUTHORS   Sampath,K. and Robertson,E.J.
  TITLE     Keeping a lid on nodal: transcriptional and translational
            repression of nodal signalling
  JOURNAL   Open Biol 6 (1), 150200 (2016)
   PUBMED   26791244
  REMARK    Review article
REFERENCE   6  (bases 1 to 1879)
  AUTHORS   Roberts,H.J., Hu,S., Qiu,Q., Leung,P.C., Caniggia,I., Gruslin,A.,
            Tsang,B. and Peng,C.
  TITLE     Identification of novel isoforms of activin receptor-like kinase 7
            (ALK7) generated by alternative splicing and expression of ALK7 and
            its ligand, Nodal, in human placenta
  JOURNAL   Biol Reprod 68 (5), 1719-1726 (2003)
   PUBMED   12606401
  REMARK    GeneRIF: mRNA expression of Nodal, a ligand for ALK7, was detected
            in placentae of different gestational age
REFERENCE   7  (bases 1 to 1879)
  AUTHORS   Yan,Y.T., Liu,J.J., Luo,Y., E,C., Haltiwanger,R.S., Abate-Shen,C.
            and Shen,M.M.
  TITLE     Dual roles of Cripto as a ligand and coreceptor in the nodal
            signaling pathway
  JOURNAL   Mol Cell Biol 22 (13), 4439-4449 (2002)
   PUBMED   12052855
REFERENCE   8  (bases 1 to 1879)
  AUTHORS   Gebbia,M., Ferrero,G.B., Pilia,G., Bassi,M.T., Aylsworth,A.,
            Penman-Splitt,M., Bird,L.M., Bamforth,J.S., Burn,J.,
            Schlessinger,D., Nelson,D.L. and Casey,B.
  TITLE     X-linked situs abnormalities result from mutations in ZIC3
  JOURNAL   Nat Genet 17 (3), 305-308 (1997)
   PUBMED   9354794
REFERENCE   9  (bases 1 to 1879)
  AUTHORS   Zhou,X., Sasaki,H., Lowe,L., Hogan,B.L. and Kuehn,M.R.
  TITLE     Nodal is a novel TGF-beta-like gene expressed in the mouse node
            during gastrulation
  JOURNAL   Nature 361 (6412), 543-547 (1993)
   PUBMED   8429908
  REMARK    GeneRIF: Functional analysis of the mouse counterpart.
REFERENCE   10 (bases 1 to 1879)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022532.13, BC039861.1 and
            AI670948.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001329906.1.
            
            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 the mature protein, which
            regulates early embryonic development. This protein is required for
            maintenance of human embryonic stem cell pluripotency and may play
            a role in human placental development. Mutations in this gene are
            associated with heterotaxy, a condition characterized by random
            orientation of visceral organs with respect to the left-right axis.
            [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream translation
            start site compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus, and lacks the signal peptide and a portion of
            the propeptide compared to 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 :: BC039861.1, BM563257.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC022532.13        81444-81446
            4-328               BC039861.1         1-325
            329-329             AC022532.13        93712-93712
            330-1352            BC039861.1         327-1349
            1353-1600           AI670948.1         280-527             c
            1601-1619           AC022532.13        97181-97199
            1620-1879           AI670948.1         1-260               c
FEATURES             Location/Qualifiers
     source          1..1879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..1879
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="nodal growth differentiation factor"
                     /db_xref="GeneID:4838"
                     /db_xref="HGNC:HGNC:7865"
                     /db_xref="MIM:601265"
     exon            1..28
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /inference="alignment:Splign:2.1.0"
     exon            29..726
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /inference="alignment:Splign:2.1.0"
     CDS             235..879
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="isoform 2 is encoded by transcript variant 2; nodal
                     homolog"
                     /codon_start=1
                     /product="nodal homolog isoform 2"
                     /protein_id="NP_001316835.1"
                     /db_xref="GeneID:4838"
                     /db_xref="HGNC:HGNC:7865"
                     /db_xref="MIM:601265"
                     /translation="MDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVA
                     GECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRH
                     RRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
                     AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL"
     exon            727..1879
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1345..1350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="hexamer: ATTAAA"
     polyA_site      1363
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="major polyA site"
     regulatory      1481..1486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="hexamer: AATAAA"
     polyA_site      1500
                     /gene="NODAL"
                     /gene_synonym="HTX5"
ORIGIN      
        1 gaccaacagt tggggataca gactaaagat gtggcagtgg atgggcagaa ctggacgttt
       61 gcttttgact tctccttcct gagccaacaa gaggatctgg catgggctga gctccggctg
      121 cagctgtcca gccctgtgga cctccccact gagggctcac ttgccattga gattttccac
      181 cagccaaagc ccgacacaga gcaggcttca gacagctgct tagagcggtt tcagatggac
      241 ctattcactg tcactttgtc ccaggtcacc ttttccttgg gcagcatggt tttggaggtg
      301 accaggcctc tctccaagtg gctgaagcac cctggggccc tggagaagca gatgtccagg
      361 gtagctggag agtgctggcc gcggcccccc acaccgcctg ccaccaatgt gctccttatg
      421 ctctactcca acctctcgca ggagcagagg cagctgggtg ggtccacctt gctgtgggaa
      481 gccgagagct cctggcgggc ccaggaggga cagctgtcct gggagtgggg caagaggcac
      541 cgtcgacatc acttgccaga cagaagtcaa ctgtgtcgga aggtcaagtt ccaggtggac
      601 ttcaacctga tcggatgggg ctcctggatc atctacccca agcagtacaa cgcctatcgc
      661 tgtgagggcg agtgtcctaa tcctgttggg gaggagtttc atccgaccaa ccatgcatac
      721 atccagagtc tgctgaaacg ttaccagccc caccgagtcc cttccacttg ttgtgcccca
      781 gtgaagacca agccgctgag catgctgtat gtggataatg gcagagtgct cctagatcac
      841 cataaagaca tgatcgtgga agaatgtggg tgcctctgat gacatcctgg agggagactg
      901 gatttgcctg cactctggaa ggctgggaaa ctcctggaag acatgataac catctaatcc
      961 agtaaggaga aacagagagg ggcaaagttg ctctgcccac cagaactgaa gaggaggggc
     1021 tgcccactct gtaaatgaag ggctcagtgg agtctggcca agcacagagg ctgctgtcag
     1081 gaagagggag gaagaagcct gtgcaggggg ctggctggat gttctcttta ctgaaaagac
     1141 agtggcaagg aaaagcacaa gtgcatgagt tctttactgg attttttaaa aacctgtgaa
     1201 ccccccgaaa ctgtatgtga aagttgagac atatgtgcat gtattttgga ggtgggatga
     1261 agtcacctat agctttcatg tattctccaa agtagtctgt gtgtgacctg tccccctccc
     1321 caaagattaa ggatcactgt atagattaaa aagagtccgt caatctcatt gcctcaggct
     1381 gggttggggg agccccacag ctttctggct ggccagtggc aatctactgg ccttgtccag
     1441 aggctcactg gagtggttct ctgctaatga gctgtacaac aataaagcca ttgtctagtt
     1501 ctcctgggcc agctggtgcc tgtgaaggca gaggcaggaa ctcatccaag aggaccggcc
     1561 atgttgggtt acagaagaca tccctgcgtc agtctgcttc ggcagacaca gcctgagttt
     1621 gttaaagttg gtgacaatcc acctcagtct ctcaatgtgt gctattaatg aggcctctga
     1681 gcttcctatc cagcagtggt gaaggccttg ccctgggtgg caagatactt gctctatggt
     1741 cacagctcag ccactggaag ctgtgcgacc tcaggtgagc aattcactgt ccagtctcca
     1801 cttgtaaaag gaacgctggt gaatcctaat gcattcatat taaatgtctg ttgtcaggct
     1861 cagaagagcc atgagcttt
//
