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

Summary

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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GDF1 ameliorates cognitive impairment induced by hearing loss.
Title: GDF1 ameliorates cognitive impairment induced by hearing loss.
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.
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.
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.
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.
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.
GDF1 regulates the activity and signaling range of Nodal through direct interaction
Title: Long-range action of Nodal requires interaction with GDF1.
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.
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.

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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

RH139099 (e-PCR)
- UniSTS:221185

Gdf1 (e-PCR), detects polymorphism
- UniSTS:496651

AI385651 (e-PCR)
- UniSTS:159770

NoName (e-PCR)
- UniSTS:235917

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)

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
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