LOCUS       NM_018055               2058 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens nodal growth differentiation factor (NODAL),
            transcript variant 1, mRNA.
ACCESSION   NM_018055
VERSION     NM_018055.5
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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 2058)
  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 BC104976.1, AC022532.13 and
            BC033585.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_018055.4.
            
            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 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 (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: BC033585.1, SRR3476690.505796.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287139.8/ ENSP00000287139.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-507               BC104976.1         29-535
            508-508             AC022532.13        93712-93712
            509-1679            BC033585.1         431-1601
            1680-2058           AC022532.13        97081-97459
FEATURES             Location/Qualifiers
     source          1..2058
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2058
                     /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..207
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1058
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; nodal homolog"
                     /codon_start=1
                     /product="nodal homolog isoform 1 preproprotein"
                     /protein_id="NP_060525.3"
                     /db_xref="CCDS:CCDS7304.1"
                     /db_xref="GeneID:4838"
                     /db_xref="HGNC:HGNC:7865"
                     /db_xref="MIM:601265"
                     /translation="MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYM
                     LSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFSFLSQQEDLAWAELRLQLSSPVD
                     LPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLS
                     KWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAES
                     SWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRC
                     EGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLD
                     HHKDMIVEECGCL"
     exon            208..905
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /inference="alignment:Splign:2.1.0"
     exon            906..2058
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1524..1529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="hexamer: ATTAAA"
     polyA_site      1542
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="major polyA site"
     regulatory      1660..1665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NODAL"
                     /gene_synonym="HTX5"
                     /note="hexamer: AATAAA"
     polyA_site      1679
                     /gene="NODAL"
                     /gene_synonym="HTX5"
ORIGIN      
        1 ctggccagcc caccatgcac gcccactgcc tgcccttcct tctgcacgcc tggtgggccc
       61 tactccaggc gggtgctgcg acggtggcca ctgcgctcct gcgtacgcgg gggcagccct
      121 cgtcgccatc ccctctggcg tacatgctga gcctctaccg cgacccgctg ccgagggcag
      181 acatcatccg cagcctacag gcagaagatg tggcagtgga tgggcagaac tggacgtttg
      241 cttttgactt ctccttcctg agccaacaag aggatctggc atgggctgag ctccggctgc
      301 agctgtccag ccctgtggac ctccccactg agggctcact tgccattgag attttccacc
      361 agccaaagcc cgacacagag caggcttcag acagctgctt agagcggttt cagatggacc
      421 tattcactgt cactttgtcc caggtcacct tttccttggg cagcatggtt ttggaggtga
      481 ccaggcctct ctccaagtgg ctgaagcacc ctggggccct ggagaagcag atgtccaggg
      541 tagctggaga gtgctggccg cggcccccca caccgcctgc caccaatgtg ctccttatgc
      601 tctactccaa cctctcgcag gagcagaggc agctgggtgg gtccaccttg ctgtgggaag
      661 ccgagagctc ctggcgggcc caggagggac agctgtcctg ggagtggggc aagaggcacc
      721 gtcgacatca cttgccagac agaagtcaac tgtgtcggaa ggtcaagttc caggtggact
      781 tcaacctgat cggatggggc tcctggatca tctaccccaa gcagtacaac gcctatcgct
      841 gtgagggcga gtgtcctaat cctgttgggg aggagtttca tccgaccaac catgcataca
      901 tccagagtct gctgaaacgt taccagcccc accgagtccc ttccacttgt tgtgccccag
      961 tgaagaccaa gccgctgagc atgctgtatg tggataatgg cagagtgctc ctagatcacc
     1021 ataaagacat gatcgtggaa gaatgtgggt gcctctgatg acatcctgga gggagactgg
     1081 atttgcctgc actctggaag gctgggaaac tcctggaaga catgataacc atctaatcca
     1141 gtaaggagaa acagagaggg gcaaagttgc tctgcccacc agaactgaag aggaggggct
     1201 gcccactctg taaatgaagg gctcagtgga gtctggccaa gcacagaggc tgctgtcagg
     1261 aagagggagg aagaagcctg tgcagggggc tggctggatg ttctctttac tgaaaagaca
     1321 gtggcaagga aaagcacaag tgcatgagtt ctttactgga ttttttaaaa acctgtgaac
     1381 cccccgaaac tgtatgtgaa agttgagaca tatgtgcatg tattttggag gtgggatgaa
     1441 gtcacctata gctttcatgt attctccaaa gtagtctgtg tgtgacctgt ccccctcccc
     1501 aaagattaag gatcactgta tagattaaaa agagtccgtc aatctcattg cctcaggctg
     1561 ggttggggga gccccacagc tttctggctg gccagtggca atctactggc cttgtccaga
     1621 ggctcactgg agtggttctc tgctaatgag ctgtacaaca ataaagccat tgtctagttc
     1681 tcctgggcca gctggtgcct gtgaaggcag aggcaggaac tcatccaaga ggaccggcca
     1741 tgttgggtta cagaagacat ccctgcgtca gtctgcttcg gcagacacag cctgagtttg
     1801 ttaaagttgg tgacaatcca cctcagtctc tcaatgtgtg ctattaatga ggcctctgag
     1861 cttcctatcc agcagtggtg aaggccttgc cctgggtggc aagatacttg ctctatggtc
     1921 acagctcagc cactggaagc tgtgcgacct caggtgagca attcactgtc cagtctccac
     1981 ttgtaaaagg aacgctggtg aatcctaatg cattcatatt aaatgtctgt tgtcaggctc
     2041 agaagagcca tgagcttt
//
