LOCUS       NM_005260               3705 bp    mRNA    linear   PRI 27-MAY-2024
DEFINITION  Homo sapiens growth differentiation factor 9 (GDF9), transcript
            variant 1, mRNA.
ACCESSION   NM_005260
VERSION     NM_005260.7
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 3705)
  AUTHORS   Duan,Y., Cai,B., Guo,J., Wang,C., Mai,Q., Xu,Y., Zeng,Y., Shi,Y.,
            Wang,B., Ding,C., Chen,M., Zhou,C. and Xu,Y.
  TITLE     GDF9His209GlnfsTer6/S428T and GDF9Q321X/S428T bi-allelic variants
            caused female subfertility with defective follicle enlargement
  JOURNAL   Cell Commun Signal 22 (1), 235 (2024)
   PUBMED   38643161
  REMARK    GeneRIF: GDF9[His209GlnfsTer6/S428T] and GDF9[Q321X/S428T]
            bi-allelic variants caused female subfertility with defective
            follicle enlargement.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3705)
  AUTHORS   Al-Rubaye,D.S., Mohammed Hamza,H. and Ahmed Al-Khafaji,Q.
  TITLE     Interleukin 17 and Growth Differentiation Factor 9 Influence in a
            Sample of Iraqi Infertile Males
  JOURNAL   Arch Razi Inst 78 (3), 1147-1151 (2023)
   PUBMED   38028840
  REMARK    GeneRIF: Interleukin 17 and Growth Differentiation Factor 9
            Influence in a Sample of Iraqi Infertile Males.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3705)
  AUTHORS   Riepsamen,A.H., Donoghoe,M.W., Indran,I.R., Hechtman,L.,
            Robertson,D.M., Gilchrist,R.B., Ledger,W.L. and Yong,E.L.
  TITLE     Serum GDF9 and BMP15 as potential markers of ovarian function in
            women with and without polycystic ovary syndrome
  JOURNAL   Clin Endocrinol (Oxf) 98 (4), 567-577 (2023)
   PUBMED   36372988
  REMARK    GeneRIF: Serum GDF9 and BMP15 as potential markers of ovarian
            function in women with and without polycystic ovary syndrome.
REFERENCE   4  (bases 1 to 3705)
  AUTHORS   Huang,T.H., Chen,F.R., Zhang,Y.N., Chen,S.Q., Long,F.Y., Wei,J.J.,
            Zhang,K., Zeng,J.Z., Zhu,Q.Y., Li-Ling,J. and Gong,Y.
  TITLE     Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and
            outcomes of IVF-ET among young patients with low prognosis
  JOURNAL   J Assist Reprod Genet 40 (3), 567-576 (2023)
   PUBMED   36689045
  REMARK    GeneRIF: Decreased GDF9 and BMP15 in follicle fluid and granulosa
            cells and outcomes of IVF-ET among young patients with low
            prognosis.
REFERENCE   5  (bases 1 to 3705)
  AUTHORS   Aaltonen,J., Laitinen,M.P., Vuojolainen,K., Jaatinen,R.,
            Horelli-Kuitunen,N., Seppa,L., Louhio,H., Tuuri,T., Sjoberg,J.,
            Butzow,R., Hovata,O., Dale,L. and Ritvos,O.
  TITLE     Human growth differentiation factor 9 (GDF-9) and its novel homolog
            GDF-9B are expressed in oocytes during early folliculogenesis
  JOURNAL   J Clin Endocrinol Metab 84 (8), 2744-2750 (1999)
   PUBMED   10443672
REFERENCE   6  (bases 1 to 3705)
  AUTHORS   Hayashi,M., McGee,E.A., Min,G., Klein,C., Rose,U.M., van Duin,M.
            and Hsueh,A.J.
  TITLE     Recombinant growth differentiation factor-9 (GDF-9) enhances growth
            and differentiation of cultured early ovarian follicles
  JOURNAL   Endocrinology 140 (3), 1236-1244 (1999)
   PUBMED   10067849
REFERENCE   7  (bases 1 to 3705)
  AUTHORS   Fitzpatrick,S.L., Sindoni,D.M., Shughrue,P.J., Lane,M.V.,
            Merchenthaler,I.J. and Frail,D.E.
  TITLE     Expression of growth differentiation factor-9 messenger ribonucleic
            acid in ovarian and nonovarian rodent and human tissues
  JOURNAL   Endocrinology 139 (5), 2571-2578 (1998)
   PUBMED   9564873
REFERENCE   8  (bases 1 to 3705)
  AUTHORS   Dong,J., Albertini,D.F., Nishimori,K., Kumar,T.R., Lu,N. and
            Matzuk,M.M.
  TITLE     Growth differentiation factor-9 is required during early ovarian
            folliculogenesis
  JOURNAL   Nature 383 (6600), 531-535 (1996)
   PUBMED   8849725
REFERENCE   9  (bases 1 to 3705)
  AUTHORS   McGrath,S.A., Esquela,A.F. and Lee,S.J.
  TITLE     Oocyte-specific expression of growth/differentiation factor-9
  JOURNAL   Mol Endocrinol 9 (1), 131-136 (1995)
   PUBMED   7760846
REFERENCE   10 (bases 1 to 3705)
  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 AC004500.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 15, 2021 this sequence version replaced NM_005260.6.
            
            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 regulates ovarian
            function. Reduced expression of this gene may be associated with
            polycystic ovary syndrome and mutations in this gene may be more
            common in mothers of dizygotic twins. [provided by RefSeq, Jul
            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 :: SRR11853566.22771.1,
                                           SRR1660809.65643.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000687138.1/ ENSP00000510441.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2333              AC004500.1         37488-39820
            2334-3705           AC004500.1         41401-42772
FEATURES             Location/Qualifiers
     source          1..3705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..3705
                     /gene="GDF9"
                     /gene_synonym="POF14"
                     /note="growth differentiation factor 9"
                     /db_xref="GeneID:2661"
                     /db_xref="HGNC:HGNC:4224"
                     /db_xref="MIM:601918"
     exon            1..2333
                     /gene="GDF9"
                     /gene_synonym="POF14"
                     /inference="alignment:Splign:2.1.0"
     CDS             1937..3301
                     /gene="GDF9"
                     /gene_synonym="POF14"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="growth/differentiation factor 9 isoform 1
                     preproprotein"
                     /protein_id="NP_005251.1"
                     /db_xref="CCDS:CCDS4162.1"
                     /db_xref="GeneID:2661"
                     /db_xref="HGNC:HGNC:4224"
                     /db_xref="MIM:601918"
                     /translation="MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGA
                     MPWSLLQHIDERDRAGLLPALFKVLSVGRGGSPRLQPDSRALHYMKKLYKTYATKEGI
                     PKSNRSHLYNTVRLFTPCTRHKQAPGDQVTGILPSVELLFNLDRITTVEHLLKSVLLY
                     NINNSVSFSSAVKCVCNLMIKEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTS
                     LLQPLVASNKRSIHMSINFTCMKDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYH
                     SWYSLHYKRRPSQGPDQERSLSAYPVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGP
                     ASFNLSEYFRQFLLPQNECELHDFRLSFSQLKWDNWIVAPHRYNPRYCKGDCPRAVGH
                     RYGSPVHTMVQNIIYEKLDSSVPRPSCVPAKYSPLSVLTIEPDGSIAYKEYEDMIATK
                     CTCR"
     exon            2334..3705
                     /gene="GDF9"
                     /gene_synonym="POF14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3685..3690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF9"
                     /gene_synonym="POF14"
                     /note="hexamer: AATAAA"
     polyA_site      3705
                     /gene="GDF9"
                     /gene_synonym="POF14"
                     /note="major polyA site"
ORIGIN      
        1 ggagcctagc ggaggacgtc ggggattgaa ctgactttgg gggacagtgg acaggcggag
       61 gcgctcacac ttctcctcag ccctcggctt ttctgtggaa tcccagtcag gaagcggccg
      121 aatgcgggag gcgggggagg gaacaaaaag gtgacgagga aggggcctgc cgacctccgg
      181 ggcagcgctg gccaggagct tggggcctgc gagtcttccc agctgtagac agagcgcctc
      241 tgagccccga ggccgggccg ccccacagca gaggagcacg aggtttcatt tggccttggc
      301 cagtagctca aagggggctt cgttattttc aggccatgag cgaccccagc accaaaatca
      361 gggacacaca tcgaaggctt ctcttggact ctgttttaga gtcccctggc aggctgttaa
      421 cgttcccaag agataataca aacgtttcgt cagtttcagc cacaaaaata atcaaataat
      481 cgtcaattga tgaatgctga ggccgcctcg acagcagcca gcgtcctccc cagatggttt
      541 gcgtggggtg gggggaatca cgatgcccca gttctttctt ctccccacgt gagaagcaag
      601 gaaagtcggg tgagaggcct tattatgttt tccctgaagt gcattctgct tgacgatgct
      661 gttgtcaatg tacagctcgc cctgaggtgt cttgtcagtg ttttgttaat ggaattgctg
      721 gccatatttt atctaggact aagctctcat tcaacagttg gctgtgtttt ataacactac
      781 ttacggacca cggaggctcg gcaggcagtc aacttgtatt ttgcagacat accttagttt
      841 tctcatgtag gtactgcaca aactggcttc gtatcttgca ctatgagtgt aggctgactc
      901 ttccagcata gtctccttcg gggtggcgct gaatatcccc tcatttcagc ttttcatggt
      961 gctcctttgc ctcatttttt taaaccataa tgtctagcct ggtctcagct ccaaggcaag
     1021 aacagaaata caggtaagga cagaaatatt gtggcaaatt ctaccaccat ttggatgaat
     1081 aataataaaa cgttcattta ttttatagca tctgcaaaca tcccaaaacc tttcaaccaa
     1141 aatatgtata gatgagtgtg cagaccaaag taaggacatc agtatgttac atttaaaaat
     1201 aagtcaaggt taaaggcggt gtcctctttt aagaacatcg caaatacaat tccagtactc
     1261 caagtacgta ttctgtaccc agccacctgg gaggactgag agacctaatg gttttctgct
     1321 ttctggaact tctatgccaa ttgtgacttt ctcacccaaa tttgtaaatt cgcaaattaa
     1381 catgcagcga ataattacaa ttgtaaacac ctggaagtgg aaaaggccgt gaggataaat
     1441 tgagaggaag agtaaaccta ataccataag ttgcatacca gcagatctga gtatcgtcat
     1501 gaataattgg ttagcttttc cacatgcctt agaagtttca gcaagcacct agcgaacatc
     1561 ttaatccaaa tttctcaaaa aatgagagat tttatttaag atcattcctc aatttatctt
     1621 agactttcag ctacatagtt agtccggtag tgtaacagta acgggtttta cgtaaatgcc
     1681 aggggaaaag agaggaaagc taaataacca agtaaatctg tatctaatta acaaattggc
     1741 taaataaggt gttatcagct gcttgatata gagctgataa aatcttcagc taggcatact
     1801 tgaggcctga ttacagaagt gaccgtagtc cacccacaca cctgaaattt atttaagaga
     1861 ccaagctagg ctcttcctgg cctttaggaa gaggactggc atggagaaat atgttcctca
     1921 ctagttctcc caagccatgg cacgtcccaa caaattcctc ctttggtttt gctgctttgc
     1981 ctggctgtgt tttcctatta gccttggttc tcaggcttct gggggagaag ctcagattgc
     2041 tgctagtgct gagttggaat ctggggctat gccttggtcc ttgctgcagc atatagatga
     2101 gagagacaga gctggcctcc ttcccgcgct tttcaaagtt ctatctgttg ggcgaggtgg
     2161 gtcacctagg ctgcagccag actccagagc tttgcactac atgaagaagc tctataagac
     2221 atatgctacc aaggaaggga ttcctaaatc caatagaagt cacctctaca acactgttcg
     2281 gctcttcacc ccctgtaccc ggcacaagca ggctcctgga gaccaggtaa caggaatcct
     2341 tccatcagtg gaactgctat ttaacctgga tcgcattact accgttgaac acttactcaa
     2401 gtcagtcttg ctgtacaata tcaacaactc agtttctttt tcctctgctg tcaaatgtgt
     2461 gtgcaatcta atgataaagg agccaaagtc ttctagcagg actctcggca gagctccata
     2521 ctcatttacc tttaactcac agtttgaatt tggaaagaaa cacaaatgga ttcagattga
     2581 tgtgaccagc ctccttcaac ctttagtggc ctccaacaag agaagtattc acatgtctat
     2641 aaattttact tgcatgaaag accagctgga gcatccttca gcacagaatg gtttgtttaa
     2701 catgactctg gtgtccccct cactgatctt atatttgaat gacacaagtg ctcaggctta
     2761 tcacagctgg tattcccttc actataaaag gaggccttcc cagggtcctg accaggagag
     2821 aagtctgtct gcctatcctg tgggagaaga ggctgctgag gatgggagat cttcccatca
     2881 ccgtcaccgc agaggtcagg aaactgtcag ttctgaattg aagaagccct tgggcccagc
     2941 ttccttcaat ctgagtgaat acttcagaca atttcttctt ccccaaaatg agtgtgagct
     3001 ccatgacttt agacttagct ttagtcagct gaagtgggac aactggattg tggctccgca
     3061 caggtacaac cctcgatact gtaaagggga ctgtccaagg gcagttggac atcggtatgg
     3121 ctctccagtt cacaccatgg tacagaacat catctatgag aagctggact cctcagtgcc
     3181 aagaccgtca tgtgtacctg ccaaatacag ccccttgagt gttttgacca ttgagcccga
     3241 tggctcaatt gcctataaag agtacgaaga tatgatagct acaaagtgca cctgtcgtta
     3301 acaaatggtc ctcttaaaac cttgagccta tttggcaaag taactactgt gtgcctatgt
     3361 gtgccttcaa gagaaagctt catatattaa gtctctaaat gtagcatatg ttatataaag
     3421 aggagcctgt gtaggttagt accttctatg gcatctatca ggataaaggg ataacatcaa
     3481 ttgttgctac agagcctttt tttatttcca aatttaaatg aaatataatt attgtggaga
     3541 actttacatt tttttccttg agtgattttt tttcttttca taggagtctt attcttgata
     3601 gggaaaaaac cttaattagc atcaatcctg gatggacttg cagctataaa taggcaattc
     3661 agattgctgt agtcttaata gaagaataaa tttctgtcaa tggca
//
