LOCUS       NM_001492               2579 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens growth differentiation factor 1 (GDF1), transcript
            variant 1, mRNA.
ACCESSION   NM_001492
VERSION     NM_001492.6
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 2579)
  AUTHORS   Montecchi,T., Nannini,G., De Tommaso,D., Cassioli,C., Coppola,F.,
            Ringressi,M.N., Carraro,F., Naldini,A., Taddei,A., Marotta,G.,
            Amedei,A., Baldari,C.T. and Ulivieri,C.
  TITLE     Human colorectal cancer: upregulation of the adaptor protein Rai in
            TILs leads to cell dysfunction by sustaining GSK-3 activation and
            PD-1 expression
  JOURNAL   Cancer Immunol Immunother 73 (1), 2 (2024)
   PUBMED   38175205
  REMARK    GeneRIF: Human colorectal cancer: upregulation of the adaptor
            protein Rai in TILs leads to cell dysfunction by sustaining GSK-3
            activation and PD-1 expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2579)
  AUTHORS   Krishna,M.R. and Sennaiyan,U.N.
  TITLE     Homozygous variants in the GDF1 gene related to recurrent right
            isomerism and complex CHD in two Indian families
  JOURNAL   Cardiol Young 32 (12), 2041-2043 (2022)
   PUBMED   35351224
  REMARK    GeneRIF: Homozygous variants in the GDF1 gene related to recurrent
            right isomerism and complex CHD in two Indian families.
REFERENCE   3  (bases 1 to 2579)
  AUTHORS   Gao,X., Zhang,C., Zheng,P., Dan,Q., Luo,H., Ma,X. and Lu,C.
  TITLE     Arsenic suppresses GDF1 expression via ROS-dependent downregulation
            of specificity protein 1
  JOURNAL   Environ Pollut 271, 116302 (2021)
   PUBMED   33360347
  REMARK    GeneRIF: Arsenic suppresses GDF1 expression via ROS-dependent
            downregulation of specificity protein 1.
REFERENCE   4  (bases 1 to 2579)
  AUTHORS   Marek-Yagel,D., Bolkier,Y., Barel,O., Vardi,A., Mishali,D.,
            Katz,U., Salem,Y., Abudi,S., Nayshool,O., Kol,N.,
            Raas-Rothschild,A., Rechavi,G., Anikster,Y. and Pode-Shakked,B.
  TITLE     A founder truncating variant in GDF1 causes autosomal-recessive
            right isomerism and associated congenital heart defects in
            multiplex Arab kindreds
  JOURNAL   Am J Med Genet A 182 (5), 987-993 (2020)
   PUBMED   32144877
  REMARK    GeneRIF: A founder truncating variant in GDF1 causes
            autosomal-recessive right isomerism and associated congenital heart
            defects in multiplex Arab kindreds.
REFERENCE   5  (bases 1 to 2579)
  AUTHORS   Gao,X., Zheng,P., Yang,L., Luo,H., Zhang,C., Qiu,Y., Huang,G.,
            Sheng,W., Ma,X. and Lu,C.
  TITLE     Association of functional variant in GDF1 promoter with risk of
            congenital heart disease and its regulation by Nkx2.5
  JOURNAL   Clin Sci (Lond) 133 (12), 1281-1295 (2019)
   PUBMED   31171573
  REMARK    GeneRIF: Nkx2.5 acts upstream of GDF1 and the genetic variants in
            GDF1 promoter may confer genetic susceptibility to sporadic CHD
            potentially by altering its expression.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2579)
  AUTHORS   Karkera,J.D., Lee,J.S., Roessler,E., Banerjee-Basu,S.,
            Ouspenskaia,M.V., Mez,J., Goldmuntz,E., Bowers,P., Towbin,J.,
            Belmont,J.W., Baxevanis,A.D., Schier,A.F. and Muenke,M.
  TITLE     Loss-of-function mutations in growth differentiation factor-1
            (GDF1) are associated with congenital heart defects in humans
  JOURNAL   Am J Hum Genet 81 (5), 987-994 (2007)
   PUBMED   17924340
  REMARK    GeneRIF: Heterozygous loss-of-function mutations in the human GDF1
            gene contribute to cardiac defects ranging from tetralogy of Fallot
            to transposition of the great arteries.
REFERENCE   7  (bases 1 to 2579)
  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   8  (bases 1 to 2579)
  AUTHORS   Jiang,J.C., Kirchman,P.A., Zagulski,M., Hunt,J. and Jazwinski,S.M.
  TITLE     Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans
            and human
  JOURNAL   Genome Res 8 (12), 1259-1272 (1998)
   PUBMED   9872981
REFERENCE   9  (bases 1 to 2579)
  AUTHORS   Lee,S.J.
  TITLE     Expression of growth/differentiation factor 1 in the nervous
            system: conservation of a bicistronic structure
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4250-4254 (1991)
   PUBMED   2034669
REFERENCE   10 (bases 1 to 2579)
  AUTHORS   Lee,S.J.
  TITLE     Identification of a novel member (GDF-1) of the transforming growth
            factor-beta superfamily
  JOURNAL   Mol Endocrinol 4 (7), 1034-1040 (1990)
   PUBMED   1704486
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005197.1, M62302.1 and
            AC003972.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001492.5.
            
            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. Studies in rodents suggest that this
            protein is involved in the establishment of left-right asymmetry in
            early embryogenesis and in neural development in later
            embryogenesis. The encoded protein is translated from a bicistronic
            mRNA that also encodes ceramide synthase 1. Mutations in this gene
            are associated with several congenital cardiovascular
            malformations. [provided by RefSeq, Jul 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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##
            CDS exon combination :: CX871104.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            bicistronic transcript :: PMID: 2034669
            MANE Ensembl match     :: ENST00000247005.8/ ENSP00000247005.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                AC005197.1         24279-24343         c
            66-301              M62302.1           4-239
            302-302             AC005197.1         24042-24042         c
            303-1289            M62302.1           241-1227
            1290-1290           AC003972.1         39107-39107         c
            1291-1760           M62302.1           1229-1698
            1761-1761           AC003972.1         38044-38044         c
            1762-2572           M62302.1           1700-2510
            2573-2579           AC003972.1         37226-37232         c
FEATURES             Location/Qualifiers
     source          1..2579
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2579
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /note="growth differentiation factor 1"
                     /db_xref="GeneID:2657"
                     /db_xref="HGNC:HGNC:4214"
                     /db_xref="MIM:602880"
     exon            1..335
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            336..495
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..676
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            677..838
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            839..986
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1096
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1733
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             1409..2527
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /note="embryonic growth/differentiation factor 1; Ceramide
                     synthase 1; LAG1 longevity assurance homolog 1; Longevity
                     assurance gene 1 protein homolog 1; Protein UOG-1"
                     /codon_start=1
                     /product="embryonic growth/differentiation factor 1
                     precursor"
                     /protein_id="NP_001483.3"
                     /db_xref="CCDS:CCDS42526.1"
                     /db_xref="GeneID:2657"
                     /db_xref="HGNC:HGNC:4214"
                     /db_xref="MIM:602880"
                     /translation="MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALG
                     LRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRRTSPGVTLQPCHVEELGVAGNIV
                     RHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
                     GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALA
                     LRPRAPAACARLAEASLLLVTLDPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSF
                     REVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVLRALMHAAAPGAADL
                     PCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR"
     exon            1734..2579
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2557..2562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /note="hexamer: AATAAA"
     polyA_site      2579
                     /gene="GDF1"
                     /gene_synonym="CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1;
                     RAI; UOG1"
                     /note="major polyA site"
ORIGIN      
        1 agctgcggcg cgtgacgcgg ggcgcgcggc tccgtcggct accgcgggcg ggcgcaggcg
       61 acgggcacgg cgggcgagcg ggcggtatgg cggcggcggg gcccgcggcg gggccgacgg
      121 ggcccgagcc catgccgagc tacgcgcagc tagtgcagcg cggctggggc agcgcgctgg
      181 cggcggcgcg gggctgcacg gactgcggct gggggctggc gcgtcgcggc ctggctgagc
      241 acgcgcacct ggcgccgccc gagctgctgc tgctggcgct cggcgcgctg ggctggaccg
      301 ccctgcgctc cgcggccact gcgcgcctct ttcggcccct ggcgaagcgg tgctgcctcc
      361 agcccagaga tgccgccaag atgcccgaga gcgcttggaa gtttctcttc tacctgggca
      421 gctggagcta cagtgcctac ctgctgtttg gcaccgacta ccccttcttc catgacccac
      481 catctgtctt ctacgactgg acgccgggca tggcagtgcc acgggacatt gcagccgcct
      541 acctgctcca gggaagcttc tatggccact ccatctacgc tacgctatac atggacacct
      601 ggcgcaagga ctcggtggtc atgctgctcc accacgtggt cactctcatc ctcatcgtct
      661 cctcctacgc cttccggtac cacaatgtgg gcatccttgt gctcttcctg cacgatatca
      721 gtgacgtgca gcttgagttc accaagctca acatttactt caagtcccgc ggcggctcct
      781 accatcggct gcatgccttg gcagcagact tgggctgcct cagcttcggc ttcagctggt
      841 tctggttccg cctctactgg ttcccgctca aggtcctgta tgccaccagt cactgcagtc
      901 tgcgcacggt gcctgacatc cccttctact tcttcttcaa tgcgctcctg ctgctgctca
      961 cccttatgaa cctctactgg ttcctgtaca tcgtggcgtt tgcagccaag gtgttgacag
     1021 gccaggtgca cgagctgaag gacctgcggg agtatgacac agccgaggcc cagagcctga
     1081 agcccagcaa agccgagaag ccactgagga acggcctggt gaaggacaag cgcttctgaa
     1141 cccctcggcc ccgcccccgt ggacccggcc ccaccccgaa taccccggcc acgctccccg
     1201 tccttggccg cccctccacc ccctccaact ctgctcctct agggccgccg ccacctcccc
     1261 tgggaccccg ccccctcatc ctgcctccag ttcccggcca cgccccccag gacccctgcc
     1321 cctccgggga caccggcccc gccctcagcc cactggtccc gggccgccgc ggaccctgcg
     1381 cactctctgg tcatcgcctg ggaggaagat gccaccgccg cagcaaggtc cctgcggcca
     1441 ccacctcctc ctcctcctgg ccctgctgct gccctcgctg cccctgaccc gcgcccccgt
     1501 gcccccaggc ccagccgccg ccctgctcca ggctctagga ctgcgcgatg agccccaggg
     1561 tgcccccagg ctccggccgg ttcccccggt catgtggcgc ctgtttcgac gccgggaccc
     1621 ccaggagacc aggtctggct cgcggcggac gtccccaggg gtcaccctgc aaccgtgcca
     1681 cgtggaggag ctgggggtcg ccggaaacat cgtgcgccac atcccggacc gcggtgcgcc
     1741 cacccgggcc tcggagcctg cctcggccgc ggggcattgc cctgagtgga cagtcgtctt
     1801 cgacctgtcg gctgtggaac ccgctgagcg cccgagccgg gcccgcctgg agctgcgttt
     1861 cgcggcggcg gcggcggcag ccccggaggg cggctgggag ctgagcgtgg cgcaagcggg
     1921 ccagggcgcg ggcgcggacc ccgggccggt gctgctccgc cagttggtgc ccgccctggg
     1981 gccgccagtg cgcgcggagc tgctgggcgc cgcttgggct cgcaacgcct catggccgcg
     2041 cagcctccgc ctggcgctgg cgctacgccc ccgggcccct gccgcctgcg cgcgcctggc
     2101 cgaggcctcg ctgctgctgg tgaccctcga cccgcgcctg tgccaccccc tggcccggcc
     2161 gcggcgcgac gccgaacccg tgttgggcgg cggccccggg ggcgcttgtc gcgcgcggcg
     2221 gctgtacgtg agcttccgcg aggtgggctg gcaccgctgg gtcatcgcgc cgcgcggctt
     2281 cctggccaac tactgccagg gtcagtgcgc gctgcccgtc gcgctgtcgg ggtccggggg
     2341 gccgccggcg ctcaaccacg ctgtgctgcg cgcgctcatg cacgcggccg ccccgggagc
     2401 cgccgacctg ccctgctgcg tgcccgcgcg cctgtcgccc atctccgtgc tcttctttga
     2461 caacagcgac aacgtggtgc tgcggcagta tgaggacatg gtggtggacg agtgcggctg
     2521 ccgctaaccc ggggcgggca gggacgcggg cccaacaata aatgccgcgt ggtctgctc
//
