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Aliases for GDF1 Gene

Aliases for GDF1 Gene

  • Growth Differentiation Factor 1 2 3 5
  • GDF-1 3 4
  • Embryonic Growth/Differentiation Factor 1 3
  • CHTD6 3
  • 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 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]

GeneCards Summary for GDF1 Gene

GDF1 (Growth Differentiation Factor 1) is a Protein Coding gene. Diseases associated with GDF1 include Right Atrial Isomerism and Congenital Heart Defects, Multiple Types, 6. Among its related pathways are Metabolism and Signaling by NODAL. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is CERS1.

UniProtKB/Swiss-Prot for GDF1 Gene

  • May mediate cell differentiation events during embryonic development.

Gene Wiki entry for GDF1 Gene

Additional gene information for GDF1 Gene

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

Genomics for GDF1 Gene

GeneHancer (GH) Regulatory Elements for GDF1 Gene

Promoters and enhancers for GDF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J018896 Promoter 0.6 EPDnew 650.7 -0.6 -606 0.1 HIC1 CERS1 GDF1 GC19M018886
GH19J018918 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.4 -23.4 -23376 2.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 COPE DDX49 UPF1 IQCN ENSG00000268030 ATP13A1 NR2C2AP ENSG00000268938 ENSG00000269191 ENSG00000267481
GH19J018756 Enhancer 0.7 ENCODE dbSUPER 12 +139.0 138999 1.2 CTCF GATA3 ZNF687 ZIC2 GC19P020584 CERS1 GDF1 COMP PIR61287 CRTC1
GH19J018995 Enhancer 0.7 ENCODE 11.3 -99.9 -99855 1.2 HDGF CTCF PKNOX1 SIN3A RAD21 ZNF121 ZNF335 ZFHX2 POLR2A EGR1 SUGP2 ARMC6 CERS1 GDF1 GC19M018978
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDF1 gene promoter:
  • SRF (504 AA)
  • SRF
  • ZIC2
  • c-Ets-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • E47
  • XBP-1
  • GR-alpha
  • GR

Genomic Locations for GDF1 Gene

Genomic Locations for GDF1 Gene
27,600 bases
Minus strand
27,593 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

Post-translational modifications for GDF1 Gene

  • Glycosylation at isoforms=206
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GDF1 Gene

Domains & Families for GDF1 Gene

Gene Families for GDF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

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

UniProtKB/Swiss-Prot Function:
May mediate cell differentiation events during embryonic development.
GENATLAS Biochemistry:
growth/differentiation factor 1,TGFB superfamily,downstream ORF of a bicistronic transcript

Gene Ontology (GO) - Molecular Function for GDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with GDF1: view
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:
  • Gdf1 Gdf1<tm1Sjl>
  • Gdf1 Gdf1<tm1.1Dmus>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF1 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for GDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with GDF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GDF1 Gene

Pathways & Interactions for GDF1 Gene

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

Gene Ontology (GO) - Biological Process for GDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010469 regulation of signaling receptor activity IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
GO:0030509 BMP signaling pathway IBA --
GO:0042981 regulation of apoptotic process IBA --
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 :

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GDF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GDF1 Gene:


mRNA Expression by UniProt/SwissProt for GDF1 Gene:

Tissue specificity: Expressed in the brain.

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • skull
  • aorta
  • heart
  • heart valve
  • lung
  • spleen
  • stomach
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with GDF1: view

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 , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES 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 33
  • 88.93 (n)
(Bos Taurus)
Mammalia GDF1 34
  • 81 (a)
(Rattus norvegicus)
Mammalia Gdf1 33
  • 75.08 (n)
(Mus musculus)
Mammalia Gdf1 16 34 33
  • 74.87 (n)
(Monodelphis domestica)
Mammalia GDF1 34
  • 49 (a)
(Ornithorhynchus anatinus)
Mammalia GDF1 34
  • 47 (a)
(Gallus gallus)
Aves CVG1 34
  • 36 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 23 (a)
(Danio rerio)
Actinopterygii dvr1 34
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta dpp 34
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
Species where no ortholog for GDF1 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for GDF1: view image

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 Variation AA Info Type
rs1037827220 uncertain-significance, Heterotaxy syndrome 18,869,058(-) G/A/T coding_sequence_variant, missense_variant
rs1038592004 likely-benign, Epilepsy, progressive myoclonic 8 18,893,567(-) C/T 5_prime_UTR_variant
rs1060504781 likely-benign, Heterotaxy syndrome 18,869,179(-) C/T coding_sequence_variant, synonymous_variant
rs1060504782 likely-benign, Heterotaxy syndrome 18,870,155(-) A/C coding_sequence_variant, synonymous_variant
rs121434422 pathogenic, Transposition of the great arteries, dextro-looped 3, Bilateral right-sidedness sequence, Heterotaxy syndrome, not provided 18,869,035(-) G/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv28733 CNV loss 19812545
nsv1143912 CNV deletion 24896259
nsv1151217 CNV deletion 26484159
nsv470132 CNV loss 18288195
nsv828473 CNV gain 20364138
nsv833777 CNV loss 17160897
nsv952423 CNV deletion 24416366

Variation tolerance for GDF1 Gene

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

Additional Variant Information for GDF1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for GDF1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for GDF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.
  • 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.
  • 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.
  • 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.

Additional Disease Information for GDF1

Genetic Association Database
Human Genome Epidemiology 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 SJ (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 22 58
  2. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. (PMID: 17924340) Karkera JD … Muenke M (American journal of human genetics 2007) 3 4 22 58
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  5. Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). (PMID: 20413652) Kaasinen E … Lehtonen R (Human molecular genetics 2010) 3 4 58

Products for GDF1 Gene

Sources for GDF1 Gene

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