LOCUS       NM_020634               1236 bp    mRNA    linear   PRI 01-MAY-2024
DEFINITION  Homo sapiens growth differentiation factor 3 (GDF3), mRNA.
ACCESSION   NM_020634
VERSION     NM_020634.3
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 1236)
  AUTHORS   Yan,Z.C., Liu,T.H., Yu,S.B., Zhan,Y.H., Wang,Z.Y., Zhu,Z.W.,
            Reng,Y.L., Shang,X.J. and Zhang,X.P.
  TITLE     [Expression and significance analysis of GDF3 in testicular cancer
            based on TCGA and GTEx databases]
  JOURNAL   Zhonghua Nan Ke Xue 29 (12), 980-985 (2023)
   PUBMED   38639949
  REMARK    GeneRIF: [Expression and significance analysis of GDF3 in
            testicular cancer based on TCGA and GTEx databases].
REFERENCE   2  (bases 1 to 1236)
  AUTHORS   Masurkar,N., Bouvet,M., Logeart,D., Jouve,C., Drame,F., Claude,O.,
            Roux,M., Delacroix,C., Bergerot,D., Mercadier,J.J., Sirol,M.,
            Gellen,B., Livrozet,M., Fayol,A., Robidel,E., Tregouet,D.A.,
            Marazzi,G., Sassoon,D., Valente,M. and Hulot,J.S.
  TITLE     Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After
            Myocardial Infarction
  JOURNAL   Circulation 147 (6), 498-511 (2023)
   PUBMED   36484260
  REMARK    GeneRIF: Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling
            After Myocardial Infarction.
REFERENCE   3  (bases 1 to 1236)
  AUTHORS   de Castro Alves,C.E., de Melo,S.A., de Melo Silva,J., de
            Oliveira,L.C., Nascimento,V.A.D., Santos,J.H.A., Naveca,F.G. and
            Pontes,G.S.
  TITLE     Increased Serum Levels of Growth-Differentiation Factor 3 (GDF3)
            and Inflammasome-Related Markers in Pregnant Women during Acute
            Zika Virus Infection
  JOURNAL   Viruses 14 (5), 1004 (2022)
   PUBMED   35632746
  REMARK    GeneRIF: Increased Serum Levels of Growth-Differentiation Factor 3
            (GDF3) and Inflammasome-Related Markers in Pregnant Women during
            Acute Zika Virus Infection.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1236)
  AUTHORS   Chen,J., Li,X., Niu,Y., Wu,Z. and Qiu,G.
  TITLE     Functional and In Silico Assessment of GDF3 Gene Variants in a
            Chinese Congenital Scoliosis Population
  JOURNAL   Med Sci Monit 24, 2992-3001 (2018)
   PUBMED   29735971
  REMARK    GeneRIF: the 4 of the 5 variants in [i]GDF3[/i] gene contribute
            different pathogenicity in congenital scoliosis, which may provide
            molecular evidence for clinical genetic testing.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1236)
  AUTHORS   Han,M.H., Park,S.W., Do,H.J., Chung,H.J., Song,H., Kim,J.H.,
            Kim,N.H., Park,K.H. and Kim,J.H.
  TITLE     Growth and Differentiation Factor 3 Is Transcriptionally Regulated
            by OCT4 in Human Embryonic Carcinoma Cells
  JOURNAL   Biol Pharm Bull 39 (11), 1802-1808 (2016)
   PUBMED   27803451
  REMARK    GeneRIF: OCT4 plays a role as a transcriptional activator for GDF3
            transcription in pluripotent human embryonic carcinoma NCCIT cells
            and contributes to the understanding of the molecular networks of
            stem cell regulators in germ cell-derived pluripotency and
            tumorigenesis.
REFERENCE   6  (bases 1 to 1236)
  AUTHORS   Hexige,S., Guo,J., Ma,L., Sun,Y., Liu,X., Ma,L., Yan,X., Li,Z. and
            Yu,L.
  TITLE     Expression pattern of growth/differentiation factor 3 in human and
            murine cerebral cortex, hippocampus as well as cerebellum
  JOURNAL   Neurosci Lett 389 (2), 83-87 (2005)
   PUBMED   16126341
  REMARK    GeneRIF: Present data suggested that GDF3 might play important
            roles in the central nervous system (CNS), especially in cerebral
            cortex, hippocampus and cerebellum, and it shed new light on
            further research of GDF3 in the central nervous system.
REFERENCE   7  (bases 1 to 1236)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 1236)
  AUTHORS   Ducy,P. and Karsenty,G.
  TITLE     The family of bone morphogenetic proteins
  JOURNAL   Kidney Int 57 (6), 2207-2214 (2000)
   PUBMED   10844590
  REMARK    Review article
REFERENCE   9  (bases 1 to 1236)
  AUTHORS   Caricasole,A.A., van Schaik,R.H., Zeinstra,L.M., Wierikx,C.D., van
            Gurp,R.J., van den Pol,M., Looijenga,L.H., Oosterhuis,J.W.,
            Pera,M.F., Ward,A., de Bruijn,D., Kramer,P., de Jong,F.H. and van
            den Eijnden-van Raaij,A.J.
  TITLE     Human growth-differentiation factor 3 (hGDF3): developmental
            regulation in human teratocarcinoma cell lines and expression in
            primary testicular germ cell tumours
  JOURNAL   Oncogene 16 (1), 95-103 (1998)
   PUBMED   9467948
REFERENCE   10 (bases 1 to 1236)
  AUTHORS   McPherron,A.C. and Lee,S.J.
  TITLE     GDF-3 and GDF-9: two new members of the transforming growth
            factor-beta superfamily containing a novel pattern of cysteines
  JOURNAL   J Biol Chem 268 (5), 3444-3449 (1993)
   PUBMED   8429021
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY358875.1, AF263538.1 and
            AA926805.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020634.2.
            
            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 each subunit of the
            disulfide-linked homodimer. This protein plays a role ocular and
            skeletal development. Mutations in this gene are associated with
            microphthalmia, coloboma, and skeletal abnormalities in human
            patients. [provided by RefSeq, Aug 2016].
            
            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 :: AY358875.1, BC030959.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329913.4/ ENSP00000331745.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AY358875.1         19-29
            12-1235             AF263538.1         1-1224
            1236-1236           AA926805.1         14-14               c
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..1236
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
                     /note="growth differentiation factor 3"
                     /db_xref="GeneID:9573"
                     /db_xref="HGNC:HGNC:4218"
                     /db_xref="MIM:606522"
     exon            1..315
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1142
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
                     /codon_start=1
                     /product="growth/differentiation factor 3 preproprotein"
                     /protein_id="NP_065685.1"
                     /db_xref="CCDS:CCDS8581.1"
                     /db_xref="GeneID:9573"
                     /db_xref="HGNC:HGNC:4218"
                     /db_xref="MIM:606522"
                     /translation="MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKF
                     QPVPYILKKIFQDREAAATTGVSRDLCYVKELGVRGNVLRFLPDQGFFLYPKKISQAS
                     SCLQKLLYFNLSAIKEREQLTLAQLGLDLGPNSYYNLGPELELALFLVQEPHVWGQTT
                     PKPGKMFVLRSVPWPQGAVHFNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQP
                     EDTCARLRCSLHASLLVVTLNPDQCHPSRKRRAAIPVPKLSCKNLCHRHQLFINFRDL
                     GWHKWIIAPKGFMANYCHGECPFSLTISLNSSNYAFMQALMHAVDPEIPQAVCIPTKL
                     SPISMLYQDNNDNVILRHYEDMVVDECGCG"
     exon            316..1236
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1190..1195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
                     /note="hexamer: AATAAA"
     polyA_site      1230
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
     polyA_site      1236
                     /gene="GDF3"
                     /gene_synonym="KFS3; MCOP7; MCOPCB6"
                     /note="major polyA site"
ORIGIN      
        1 agtctggcag tggagctctc cccggtctga cagccactcc agaggccatg cttcgtttct
       61 tgccagattt ggctttcagc ttcctgttaa ttctggcttt gggccaggca gtccaatttc
      121 aagaatatgt ctttctccaa tttctgggct tagataaggc gccttcaccc cagaagttcc
      181 aacctgtgcc ttatatcttg aagaaaattt tccaggatcg cgaggcagca gcgaccactg
      241 gggtctcccg agacttatgc tacgtaaagg agctgggcgt ccgcgggaat gtacttcgct
      301 ttctcccaga ccaaggtttc tttctttacc caaagaaaat ttcccaagct tcctcctgcc
      361 tgcagaagct cctctacttt aacctgtctg ccatcaaaga aagggaacag ttgacattgg
      421 cccagctggg cctggacttg gggcccaatt cttactataa cctgggacca gagctggaac
      481 tggctctgtt cctggttcag gagcctcatg tgtggggcca gaccacccct aagccaggta
      541 aaatgtttgt gttgcggtca gtcccatggc cacaaggtgc tgttcacttc aacctgctgg
      601 atgtagctaa ggattggaat gacaaccccc ggaaaaattt cgggttattc ctggagatac
      661 tggtcaaaga agatagagac tcaggggtga attttcagcc tgaagacacc tgtgccagac
      721 taagatgctc ccttcatgct tccctgctgg tggtgactct caaccctgat cagtgccacc
      781 cttctcggaa aaggagagca gccatccctg tccccaagct ttcttgtaag aacctctgcc
      841 accgtcacca gctattcatt aacttccggg acctgggttg gcacaagtgg atcattgccc
      901 ccaaggggtt catggcaaat tactgccatg gagagtgtcc cttctcactg accatctctc
      961 tcaacagctc caattatgct ttcatgcaag ccctgatgca tgccgttgac ccagagatcc
     1021 cccaggctgt gtgtatcccc accaagctgt ctcccatttc catgctctac caggacaata
     1081 atgacaatgt cattctacga cattatgaag acatggtagt cgatgaatgt gggtgtgggt
     1141 aggatgtcag aaatgggaat agaaggagtg ttcttagggt aaatctttta ataaaactac
     1201 ctatctggtt tatgaccact tagatcgaaa tgtcaa
//
