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Aliases for GDF1 Gene

Aliases for GDF1 Gene

  • Growth Differentiation Factor 1 2 3 5
  • GDF-1 3 4
  • DTGA3 3
  • DORV 3
  • RAI 3

External Ids for GDF1 Gene

Previous GeneCards Identifiers for GDF1 Gene

  • GC19U990041
  • GC19M019371
  • GC19M018824
  • GC19M018842
  • GC19M018979
  • GC19M018543

Summaries for GDF1 Gene

Entrez Gene Summary for GDF1 Gene

  • This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. 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. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Mar 2014]

GeneCards Summary for GDF1 Gene

GDF1 (Growth Differentiation Factor 1) is a Protein Coding gene. Diseases associated with GDF1 include Transposition Of Great Arteries, Dextro-Looped 3 and Right Atrial Isomerism. Among its related pathways are Developmental Biology and Metabolism. GO annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP2.

UniProtKB/Swiss-Prot for GDF1 Gene

  • May mediate cell differentiation events during embryonic development.

Gene Wiki entry for GDF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF1 Gene

Genomics for GDF1 Gene

Regulatory Elements for GDF1 Gene

Enhancers for GDF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GDF1 on UCSC Golden Path with GeneCards custom track

Promoters for GDF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GDF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GDF1 Gene

18,868,545 bp from pter
18,896,144 bp from pter
27,600 bases
Minus strand

Genomic View for GDF1 Gene

Genes around GDF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF1 Gene

Proteins for GDF1 Gene

  • Protein details for GDF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Embryonic growth/differentiation factor 1
    Protein Accession:
    Secondary Accessions:
    • O43344

    Protein attributes for GDF1 Gene

    372 amino acids
    Molecular mass:
    39475 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    • This protein is produced by a bicistronic gene which also produces the CERS1 protein from a non-overlapping reading frame.

neXtProt entry for GDF1 Gene

Proteomics data for GDF1 Gene at MOPED

Post-translational modifications for GDF1 Gene

  • Glycosylation at Asn 206
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for GDF1

No data available for DME Specific Peptides for GDF1 Gene

Domains & Families for GDF1 Gene

Gene Families for GDF1 Gene

Suggested Antigen Peptide Sequences for GDF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TGF-beta family.
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF1: view

Function for GDF1 Gene

Molecular function for GDF1 Gene

GENATLAS Biochemistry:
growth/differentiation factor 1,TGFB superfamily,downstream ORF of a bicistronic transcript
UniProtKB/Swiss-Prot Function:
May mediate cell differentiation events during embryonic development.
genes like me logo Genes that share phenotypes with GDF1: view

Human Phenotype Ontology for GDF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDF1 Gene

MGI Knock Outs for GDF1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for GDF1 Gene

Localization for GDF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF1 Gene


Subcellular locations from

Jensen Localization Image for GDF1 Gene COMPARTMENTS Subcellular localization image for GDF1 gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for GDF1 Gene

Pathways & Interactions for GDF1 Gene

genes like me logo Genes that share pathways with GDF1: view

Pathways by source for GDF1 Gene

Interacting Proteins for GDF1 Gene

Gene Ontology (GO) - Biological Process for GDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
GO:0030509 BMP signaling pathway IBA --
GO:0040007 growth IEA --
GO:0043408 regulation of MAPK cascade IBA --
genes like me logo Genes that share ontologies with GDF1: view

No data available for SIGNOR curated interactions for GDF1 Gene

Drugs & Compounds for GDF1 Gene

No Compound Related Data Available

Transcripts for GDF1 Gene

mRNA/cDNA for GDF1 Gene

(1) REFSEQ mRNAs :
(96) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for GDF1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2: -

Relevant External Links for GDF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GDF1 Gene

mRNA expression in normal human tissues for GDF1 Gene

mRNA Expression by UniProt/SwissProt for GDF1 Gene

Tissue specificity: Expressed in the brain.
genes like me logo Genes that share expression patterns with GDF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GDF1 Gene

Orthologs for GDF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia GDF1 35
  • 88.93 (n)
  • 86.19 (a)
(Mus musculus)
Mammalia Gdf1 35
  • 74.87 (n)
  • 72.84 (a)
Gdf1 16
Gdf1 36
  • 71 (a)
(Rattus norvegicus)
Mammalia Gdf1 35
  • 75.08 (n)
  • 73.48 (a)
(Bos Taurus)
Mammalia GDF1 36
  • 81 (a)
(Monodelphis domestica)
Mammalia GDF1 36
  • 49 (a)
(Ornithorhynchus anatinus)
Mammalia GDF1 36
  • 47 (a)
(Gallus gallus)
Aves CVG1 36
  • 36 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 23 (a)
(Danio rerio)
Actinopterygii dvr1 36
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta dpp 36
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
Species with no ortholog for GDF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDF1 Gene

Gene Tree for GDF1 (if available)
Gene Tree for GDF1 (if available)

Paralogs for GDF1 Gene

Paralogs for GDF1 Gene

(2) SIMAP similar genes for GDF1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GDF1: view

Variants for GDF1 Gene

Sequence variations from dbSNP and Humsavar for GDF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_028274 -
VAR_065332 -
VAR_065333 Tetralogy of Fallot (TOF)
VAR_065334 -
VAR_065335 Conotruncal heart malformations (CTHM)

Structural Variations from Database of Genomic Variants (DGV) for GDF1 Gene

Variant ID Type Subtype PubMed ID
dgv3786n71 CNV Loss 21882294
nsv833777 CNV Loss 17160897
dgv3787n71 CNV Loss 21882294
nsv911299 CNV Loss 21882294
nsv470132 CNV Loss 18288195
nsv828473 CNV Gain 20364138
dgv3788n71 CNV Loss 21882294
esv28733 CNV Loss 19812545

Variation tolerance for GDF1 Gene

Gene Damage Index Score: 5.96; 74.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDF1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF1 Gene

Disorders for GDF1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GDF1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
transposition of great arteries, dextro-looped 3
  • transposition of the great arteries, dextro-looped 3
right atrial isomerism
  • ivemark syndrome
conotruncal heart malformations
  • double-outlet right ventricle
tetralogy of fallot
  • tetrology of fallot
digeorge syndrome
  • digeorge sequence
- elite association - COSMIC cancer census association via MalaCards
Search GDF1 in MalaCards View complete list of genes associated with diseases


  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269 PubMed:17924340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Right atrial isomerism (RAI) [MIM:208530]: A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. {ECO:0000269 PubMed:20413652}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269 PubMed:17924340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Transposition of the great arteries dextro-looped 3 (DTGA3) [MIM:613854]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. {ECO:0000269 PubMed:17924340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GDF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GDF1: view

No data available for Genatlas for GDF1 Gene

Publications for GDF1 Gene

  1. Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure. (PMID: 2034669) Lee S.-J. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 23 67
  2. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. (PMID: 17924340) Karkera J.D. … Muenke M. (Am. J. Hum. Genet. 2007) 3 23
  3. Growth/differentiation factor 1 alleviates pressure overload-induced cardiac hypertrophy and dysfunction. (PMID: 24275554) Zhang Y. … Huang C. (Biochim. Biophys. Acta 2014) 3
  4. NodalA^Gdf1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation. (PMID: 24798330) Fuerer C. … Constam D.B. (J. Biol. Chem. 2014) 3
  5. Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population. (PMID: 23076529) Sun X. … Xie X. (Mol. Biol. Rep. 2013) 3

Products for GDF1 Gene

Sources for GDF1 Gene