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    Gdf1 growth differentiation factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 14559, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Gdf1provided by MGI
    Official Full Name
    growth differentiation factor 1provided by MGI
    Primary source
    MGI:MGI:95683
    See related
    Ensembl:ENSMUSG00000087408 Ensembl:ENSMUSG00000109523 AllianceGenome:MGI:95683
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gdf-1
    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 involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is translated from a monocistronic mRNA early in development, and from a bicistronic mRNA in later stages that also encodes ceramide synthase 1. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in frontal lobe adult (RPKM 27.2), cortex adult (RPKM 24.4) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gdf1 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.15 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (70768425..70784242)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (70315775..70331592)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene homer scaffolding protein 3 Neighboring gene STARR-positive B cell enhancer ABC_E8240 Neighboring gene DEAD box helicase 49 Neighboring gene coatomer protein complex, subunit epsilon Neighboring gene ceramide synthase 1 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene STARR-seq mESC enhancer starr_21770 Neighboring gene predicted gene, 51533 Neighboring gene cartilage oligomeric matrix protein Neighboring gene CREB regulated transcription coactivator 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. GDF1 ameliorates cognitive impairment induced by hearing loss. Pan L, et al. Nat Aging, 2024 Apr. PMID 38491289
    2. Epigenetic silencing of GDF1 disrupts SMAD signaling to reinforce gastric cancer development. Yang W, et al. Oncogene, 2016 Apr 21. PMID 26212015
    3. Mesendoderm induction and reversal of left-right pattern by mouse Gdf1, a Vg1-related gene. Wall NA, et al. Dev Biol, 2000 Nov 15. PMID 11071769
    4. Generation and characterization of a Gdf1 conditional null allele. Bengtsson H, et al. Genesis, 2008 Jul. PMID 18615710
    5. Identification of a novel member (GDF-1) of the transforming growth factor-beta superfamily. Lee SJ. Mol Endocrinol, 1990 Jul. PMID 1704486

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GDF1 ameliorates cognitive impairment induced by hearing loss.
      Title: GDF1 ameliorates cognitive impairment induced by hearing loss.
    2. Epigenetic silencing of GDF1 abrogates the growth-inhibitory SMAD signaling and renders proliferation advantage to gastric epithelial cells during carcinogenesis
      Title: Epigenetic silencing of GDF1 disrupts SMAD signaling to reinforce gastric cancer development.
    3. GDF1 in the heart is a novel mediator that protects against the development of post-infarction cardiac remodelling via negative regulation of the MEK-ERK1/2 and Smad signalling pathways.
      Title: Cardioprotective role of growth/differentiation factor 1 in post-infarction left ventricular remodelling and dysfunction.
    4. This implies that Gdf1 potentiates Nodal activity by stabilizing a low molecular weight fraction that is susceptible to neutralization by soluble Acvr2.
      Title: Nodal·Gdf1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation.
    5. Data indicate that the expression of growth/differentiation factor 1 (GDF1) is up-regulated in human dilated cardiomyopathy (DCM)hearts and murine hypertrophic hearts.
      Title: Growth/differentiation factor 1 alleviates pressure overload-induced cardiac hypertrophy and dysfunction.
    6. Results suggest that GDF1 and GDF3 together represent the functional mammalian homologs of Vg1.
      Title: Distinct and cooperative roles of mammalian Vg1 homologs GDF1 and GDF3 during early embryonic development.
    7. GDF1 regulates the activity and signaling range of Nodal through direct interaction
      Title: Long-range action of Nodal requires interaction with GDF1.
    8. GDF-1 and Nodal converge on ALK4 in the anterior primitive streak to control the formation of organizing centers that are necessary for normal forebrain and branchial arch development
      Title: Synergistic interaction between Gdf1 and Nodal during anterior axis development.
    9. Recombinant mouse GDF1 signaling in zebrafish depends on EGF-CFC proteins, but not on Nodal signals. GDF1 binds to and signal through Activin receptors only in the presence of EGF-CFC proteins.
      Title: EGF-CFC proteins are essential coreceptors for the TGF-beta signals Vg1 and GDF1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within endoderm development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mesoderm development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of cardiac muscle hypertrophy ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    embryonic growth/differentiation factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001163282.2 → NP_001156754.1  embryonic growth/differentiation factor 1 precursor

      See identical proteins and their annotated locations for NP_001156754.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer, bicistronic transcript that is expressed after embryonic stage E9.
      Source sequence(s)
      AC158553, AK162823, BB183489, BC079555, BC132318
      Consensus CDS
      CCDS52571.1
      UniProtKB/Swiss-Prot
      P20863, Q6AXH1
      UniProtKB/TrEMBL
      Q3TRG1
      Related
      ENSMUSP00000128325.3, ENSMUST00000165819.9
      Conserved Domains (2) summary
      smart00204
      Location:251 → 357
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:36 → 141
      TGFb_propeptide; TGF-beta propeptide

    2. NM_008107.4 → NP_032133.2  embryonic growth/differentiation factor 1 precursor

      See identical proteins and their annotated locations for NP_032133.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR without a bicistronic structure, compared to variant 1. This variant is expressed at embryonic stage E8.5 to E9.5.
      Source sequence(s)
      BC056973, BC079555
      Consensus CDS
      CCDS52571.1
      UniProtKB/Swiss-Prot
      P20863, Q6AXH1
      UniProtKB/TrEMBL
      Q3TRG1
      Related
      ENSMUSP00000146749.2, ENSMUST00000207684.2
      Conserved Domains (2) summary
      smart00204
      Location:251 → 357
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:36 → 141
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      70768425..70784242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20863.2 GenPept UniProtKB/Swiss-Prot:P20863

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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