LOCUS       NM_001001557            3712 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens growth differentiation factor 6 (GDF6), mRNA.
ACCESSION   NM_001001557 XM_373260
VERSION     NM_001001557.4
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 3712)
  AUTHORS   Xu,Z., Wu,Y., Zhao,G., Jin,B. and Jiang,P.
  TITLE     A novel DNA methylation signature revealed GDF6 and RCC1 as
            potential prognostic biomarkers correlated with cell proliferation
            in clear cell renal cell carcinoma
  JOURNAL   Mol Biol Rep 51 (1), 16 (2023)
   PUBMED   38087057
  REMARK    GeneRIF: A novel DNA methylation signature revealed GDF6 and RCC1
            as potential prognostic biomarkers correlated with cell
            proliferation in clear cell renal cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3712)
  AUTHORS   Peschl,V., Seitz,T., Sommer,J., Thasler,W., Bosserhoff,A. and
            Hellerbrand,C.
  TITLE     Bone morphogenetic protein 13 in hepatic stellate cells and hepatic
            fibrosis
  JOURNAL   J Cell Biochem 123 (10), 1544-1552 (2022)
   PUBMED   35442524
  REMARK    GeneRIF: Bone morphogenetic protein 13 in hepatic stellate cells
            and hepatic fibrosis.
REFERENCE   3  (bases 1 to 3712)
  AUTHORS   Clarke,R.A., Fang,Z., Murrell,D., Sheriff,T. and Eapen,V.
  TITLE     GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and
            Speech Impairment
  JOURNAL   Genes (Basel) 12 (9), 1354 (2021)
   PUBMED   34573339
  REMARK    GeneRIF: GDF6 Knockdown in a Family with Multiple Synostosis
            Syndrome and Speech Impairment.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3712)
  AUTHORS   Fang,Z., Zhao,Z., Eapen,V. and Clarke,R.A.
  TITLE     siRNA Mediate RNA Interference Concordant with Early On-Target
            Transient Transcriptional Interference
  JOURNAL   Genes (Basel) 12 (8), 1290 (2021)
   PUBMED   34440463
  REMARK    GeneRIF: siRNA Mediate RNA Interference Concordant with Early
            On-Target Transient Transcriptional Interference.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3712)
  AUTHORS   Reddi,A.H.
  TITLE     Cartilage morphogenesis: role of bone and cartilage morphogenetic
            proteins, homeobox genes and extracellular matrix
  JOURNAL   Matrix Biol 14 (8), 599-606 (1995)
   PUBMED   9057810
  REMARK    Review article
REFERENCE   6  (bases 1 to 3712)
  AUTHORS   Chang,S.C., Hoang,B., Thomas,J.T., Vukicevic,S., Luyten,F.P.,
            Ryba,N.J., Kozak,C.A., Reddi,A.H. and Moos,M. Jr.
  TITLE     Cartilage-derived morphogenetic proteins. New members of the
            transforming growth factor-beta superfamily predominantly expressed
            in long bones during human embryonic development
  JOURNAL   J Biol Chem 269 (45), 28227-28234 (1994)
   PUBMED   7961761
REFERENCE   7  (bases 1 to 3712)
  AUTHORS   Storm,E.E., Huynh,T.V., Copeland,N.G., Jenkins,N.A., Kingsley,D.M.
            and Lee,S.J.
  TITLE     Limb alterations in brachypodism mice due to mutations in a new
            member of the TGF beta-superfamily
  JOURNAL   Nature 368 (6472), 639-643 (1994)
   PUBMED   8145850
REFERENCE   8  (bases 1 to 3712)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 3712)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 3712)
  AUTHORS   Juberg,R.C. and Gershanik,J.J.
  TITLE     Cervical vertebral fusion (Klippel-Feil) syndrome with
            consanguineous parents
  JOURNAL   J Med Genet 13 (3), 246-249 (1976)
   PUBMED   933127
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003465.2, AJ537424.1 and
            CA423567.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001001557.3.
            
            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 is required for normal
            formation of some bones and joints in the limbs, skull, and axial
            skeleton. Mutations in this gene are associated with Klippel-Feil
            syndrome, microphthalmia, and Leber congenital amaurosis. [provided
            by RefSeq, Sep 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 :: AJ537424.1, CN282698.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287020.7/ ENSP00000287020.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AP003465.2         46038-46051         c
            15-3711             AJ537424.1         1-3697
            3712-3712           CA423567.1         17-17               c
FEATURES             Location/Qualifiers
     source          1..3712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..3712
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="growth differentiation factor 6"
                     /db_xref="GeneID:392255"
                     /db_xref="HGNC:HGNC:4221"
                     /db_xref="MIM:601147"
     exon            1..520
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..1482
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="growth/differentiation factor 16; bone
                     morphogenetic protein 13"
                     /codon_start=1
                     /product="growth/differentiation factor 6 preproprotein"
                     /protein_id="NP_001001557.1"
                     /db_xref="CCDS:CCDS34926.1"
                     /db_xref="GeneID:392255"
                     /db_xref="HGNC:HGNC:4221"
                     /db_xref="MIM:601147"
                     /translation="MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMR
                     SRKEGKMQRAPRDSDAGREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIY
                     RTYSIAEKLGINASFFQSSKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEE
                     LVGAELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVW
                     QGLRHQPWKQLCLELRAAWGELDAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERA
                     LLVVFTRSQRKNLFAEMREQLGSAEAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRR
                     RTAFASRHGKRHGKKSRLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPLR
                     SHLEPTNHAIIQTLMNSMDPGSTPPSCCVPTKLTPISILYIDAGNNVVYKQYEDMVVE
                     SCGCR"
     exon            521..3712
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3690..3695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="hexamer: ATTAAA"
     polyA_site      3712
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="major polyA site"
ORIGIN      
        1 gcactccgag tccgcccgag gagccgggcc ccggccgctg tccagccgct ccgtgccccg
       61 cgcgtcctgc gccgccgcca ccgcctcctg gggagacgca gccacttgcc cgccatggat
      121 actcccaggg tcctgctctc ggccgtcttc ctcatcagtt ttctgtggga tttgcccggt
      181 ttccagcagg cttccatctc atcctcctcg tcgtccgccg agctgggttc caccaagggc
      241 atgcgaagcc gcaaggaagg caagatgcag cgggcgccgc gcgacagtga cgcgggccgg
      301 gagggccagg aaccacagcc gcggcctcag gacgaacccc gggctcagca gccccgggcg
      361 caggagccgc caggcagggg tccgcgcgtg gtgccccacg agtacatgct gtcaatctac
      421 aggacttact ccatcgctga gaagctgggc atcaatgcca gctttttcca gtcttccaag
      481 tcggctaata cgatcaccag ctttgtagac aggggactag acgatctctc gcacactcct
      541 ctccggagac agaagtattt gtttgatgtg tccatgctct cagacaaaga agagctggtg
      601 ggcgcggagc tgcggctctt tcgccaggcg ccctcagcgc cctgggggcc accagccggg
      661 ccgctccacg tgcagctctt cccttgcctt tcgcccctac tgctggacgc gcggaccctg
      721 gacccgcagg gggcgccgcc ggccggctgg gaagtcttcg acgtgtggca gggcctgcgc
      781 caccagccct ggaagcagct gtgcttggag ctgcgggccg catggggcga gctggacgcc
      841 ggggaggccg aggcgcgcgc gcggggaccc cagcaaccgc cgcccccgga cctgcggagt
      901 ctgggcttcg gccggagggt gcggcctccc caggagcggg ccctgctggt ggtattcacc
      961 agatcccagc gcaagaacct gttcgcagag atgcgcgagc agctgggctc ggccgaggct
     1021 gcgggcccgg gcgcgggcgc cgaggggtcg tggccgccgc cgtcgggcgc cccggatgcc
     1081 aggccttggc tgccctcgcc cggccgccgg cggcggcgca cggccttcgc cagtcgccat
     1141 ggcaagcggc acggcaagaa gtccaggcta cgctgcagca agaagcccct gcacgtgaac
     1201 ttcaaggagc tgggctggga cgactggatt atcgcgcccc tggagtacga ggcctatcac
     1261 tgcgagggtg tatgcgactt cccgctgcgc tcgcacctgg agcccaccaa ccacgccatc
     1321 atccagacgc tgatgaactc catggacccc ggctccaccc cgcccagctg ctgcgtgccc
     1381 accaaattga ctcccatcag cattctatac atcgacgcgg gcaataatgt ggtctacaag
     1441 cagtacgagg acatggtggt ggagtcgtgc ggctgcaggt agcggtgcct ttcccgccgc
     1501 cttggcccgg aaccaaggtg ggccaaggtc cgccttgcag gggaggcctg gctgcagaga
     1561 ggcggaggag gaagctggcg ctgggggagg ctgagggtga gggaacagcc tggatgtgag
     1621 agccggtggg agagaaggga gcgcagcctt cccagtaact tctacctgcc agcccagagg
     1681 gaaatatgga ttttcacacc ttgcctggcc accctggaaa aacaagccaa ggaggatttc
     1741 ttttgttctg ttttctctct ctctctctct ctctctctct ctctctctct ctctctctct
     1801 attactgtgg ctttggattt ccttatgtgt cttacaggct ttgatagaag gggaggggag
     1861 gagagatgca tacccgtttc tcaactgctc catggattga aaaaataaca gtttaaaaag
     1921 ggaaacaatg tgggaggaag aatcaccgtt gacgcatctt gatttggttg gtttttacat
     1981 gtgtaaagaa ggtggggtct ctggccatgt catagcccat gtcttgtgcc ctcccacaca
     2041 gaaagtgtta gatagggaaa ttggcaaaaa gaatagttaa gtcaggaatg gtcctgccta
     2101 tagaagagct ttgagagagg tgggcccacg ggtgcccctc tcacccattt gtgtactctg
     2161 tgagtttacc agctctgccc tggcctcttt cggtaccagg aactggcaac cttcatctca
     2221 ctcctgaggg cccaggtctc tgccttcatt gttgcttttt ctggtggggg caaggggagc
     2281 tggtatggat ggaatgacaa gaattagtcc aaatggaacc ccttgaagga taatgagaaa
     2341 ccacaaggcc tgcctctgac tggggctgac acggaggtgc attagcccag gctggaggta
     2401 gcccacccaa atgccctttc tgattctaat tgatttcttt caacagaatt tgccaaaatt
     2461 cagacatgca cttctaaggg gaaggtgatt ttccagttca aaaaaatggg caggagtggg
     2521 gaacaaaaca attaacgtaa gagctacaaa ggagggaaaa ggaaccaaga agtagaagga
     2581 gtcccatcag gagggaagat ggtgggcctc agggaggatg gggatcaagg gacaggccag
     2641 gagccaggag tggggaaggg agggatgaaa ggggacacaa gtccctgtct ctgaagtttc
     2701 tttaaaatct gagttccctc ccctctcttt gacattcctg aaagattacc agccagcaat
     2761 agcccagggc tcccccaaaa gaattggttc agattgtaat tatcagttag gcaatgtttt
     2821 taaaacttag taatgagaaa ctgtgaaaag agccaagtgt tacattgagc ttggggtggg
     2881 agatggggaa caggcagtga ggaaggagac aggggtggaa ttcgtcttct gggaggaagc
     2941 tggagagagc acagtgaaat tgaaataccc attcccagat agtcaaaaac atgaactttc
     3001 ccccagcctg caccagtatt gttttcaaac attgcccatg agtaggccct ttgaagagtt
     3061 agcttcctcc tcatctttga ctataaaatt gtttaatcaa tggaatttgt accagccttt
     3121 taaaaagttt tagtttttcc taagtgattt tgctctcttc caatctaaac ctgttgcttg
     3181 tttggttcag agaactacaa actgtcaaag aaagggtggg gatgataaga aatgctaata
     3241 taaaaatgct aagtgaaaaa aagacttggc caggagaaat aatttaaaat gcacatttgc
     3301 tttggatgca ctgttgttct gttaaggctg tatatatttg tttatttaag gtgactgaaa
     3361 gtgcaaagag gaaatggaca gcatgcaatt catcctaatg tacaaaacgt tatatgcact
     3421 caaatgttat aatttctaat atttttaaag tttatattcg agttgtacaa agttaagcat
     3481 taatcagata tttcattttt tcataatgtt accattttct taaatattat tacaaaattt
     3541 taagtctgtc taatggagag ttttttttaa actgtctacc tcatataata caagtattta
     3601 caacgctaaa gttaccagag gtcaatgaat aatcaaaaca ttttttacag tacacctttc
     3661 ctggatgata tgcaatcgaa tgctatatta ttaaacgcat ttttctcctt aa
//
