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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
  • 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 Conotruncal Heart Malformations. Among its related pathways are Signaling by NODAL 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 CERS1.

UniProtKB/Swiss-Prot for GDF1 Gene

  • May mediate cell differentiation events during embryonic development.

Gene Wiki entry 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

Regulatory Elements for GDF1 Gene

Enhancers for GDF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G018893 1.3 FANTOM5 ENCODE 38.9 +1.7 1658 2.6 HDAC1 ZSCAN4 ARID4B SIN3A BMI1 ZNF48 RAD21 GLIS2 EGR1 ZNF143 GDF1 TMEM59L CRTC1 HAPLN4 HOMER3 NCAN SUGP2 KLHL26 SLC25A42 ENSG00000269694
GH19G018756 0.8 ENCODE dbSUPER 12 +139.0 138999 1.2 CTCF GATA3 ZNF687 POLR2A ZIC2 KDM6A GDF1 CERS1 COMP GC19P019540 PIR61287
GH19G018995 0.7 ENCODE 11.3 -99.9 -99855 1.2 HDGF CTCF PKNOX1 AGO1 ZMYM3 SIN3A RAD21 ZNF121 ZFHX2 POLR2A SUGP2 ARMC6 CERS1 GDF1 GC19M018978
GH19G018603 1.6 FANTOM5 Ensembl ENCODE 1.9 +287.4 287430 11.1 ATF1 ARID4B DMAP1 ZNF2 ZNF48 ETS1 GLIS2 ZNF263 SP3 SP5 UBA52 CRLF1 C19orf60 TMEM59L KLHL26 SSBP4 KXD1 CRTC1 GDF1 RAB3A
GH19G019259 1 FANTOM5 ENCODE 3 -363.8 -363789 0.2 USF1 NFYA MAX NFYC SP2 USF2 RFX5 ZNF579 RAD51 RFXANK GDF1 NCAN SUGP2 HAPLN4 ENSG00000280282
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000108167 344 1201 HDAC1 ZSCAN4 ARID4B SIN3A ZNF48 RAD21 GLIS2 EGR1 ZNF143 DEK

Genomic Location for GDF1 Gene

Chromosome:
19
Start:
18,868,545 bp from pter
End:
18,896,144 bp from pter
Size:
27,600 bases
Orientation:
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:
    P27539-GDF1_HUMAN
    Recommended name:
    Embryonic growth/differentiation factor 1
    Protein Accession:
    P27539
    Secondary Accessions:
    • O43344

    Protein attributes for GDF1 Gene

    Size:
    372 amino acids
    Molecular mass:
    39475 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    Miscellaneous:
    • 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:

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

P27539

UniProtKB/Swiss-Prot:

GDF1_HUMAN :
  • Belongs to the TGF-beta family.
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.

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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GDF1 Gene

Localization for GDF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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,IEA --
genes like me logo Genes that share ontologies with GDF1: view

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: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 --
GO:0048468 cell development IBA --
genes like me logo Genes that share ontologies with GDF1: view

No data available for SIGNOR curated interactions for GDF1 Gene

Transcripts for GDF1 Gene

mRNA/cDNA for GDF1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: -
SP3:
SP4:

Relevant External Links for GDF1 Gene

GeneLoc Exon Structure for
GDF1
ECgene alternative splicing isoforms for
GDF1

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:

GDF1

mRNA Expression by UniProt/SwissProt for GDF1 Gene:

P27539-GDF1_HUMAN
Tissue specificity: Expressed in the brain.

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
Abdomen:
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • skin
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 , 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
dog
(Canis familiaris)
Mammalia GDF1 34
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia GDF1 35
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdf1 34
  • 75.08 (n)
mouse
(Mus musculus)
Mammalia Gdf1 34 16 35
  • 74.87 (n)
oppossum
(Monodelphis domestica)
Mammalia GDF1 35
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GDF1 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves CVG1 35
  • 36 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 23 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii dvr1 35
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dpp 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GDF1 (if available)
TreeFam:
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
rs121434423 Pathogenic, Conotruncal heart malformations (CTHM) [MIM:217095] 18,868,916(-) CGCTT(A/G)TCGCG reference, missense, utr-variant-3-prime
rs121434424 Pathogenic, Tetralogy of Fallot (TOF) [MIM:187500] 18,869,231(-) GGGCG(A/G)CTGGG reference, missense, utr-variant-3-prime
rs864622513 Uncertain significance, Tetralogy of Fallot (TOF) [MIM:187500] 18,868,791(-) CGGGG(C/T)CCGGG reference, missense, utr-variant-3-prime
VAR_065337 Tetralogy of Fallot (TOF) [MIM:187500]
VAR_065338 Transposition of the great arteries dextro-looped 3 (DTGA3) [MIM:613854]

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)

Relevant External Links for GDF1 Gene

Human Gene Mutation Database (HGMD)
GDF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF1

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

Disorders for GDF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
right atrial isomerism
  • asplenia with cardiovascular anomalies
conotruncal heart malformations
  • double-outlet right ventricle
transposition of great arteries, dextro-looped 3
  • dextro-looped transposition of the great arteries 3
tetralogy of fallot
  • tetrology of fallot
dextro-looped transposition of the great arteries
  • transposition of the great arteries, dextro-looped 1
- elite association - COSMIC cancer census association via MalaCards
Search GDF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDF1_HUMAN
  • 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)
GDF1
Human Genome Epidemiology (HuGE) Navigator
GDF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF1
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 22 64
  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 4 22 64
  3. Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). (PMID: 20413652) Kaasinen E. … Lehtonen R. (Hum. Mol. Genet. 2010) 3 4 64
  4. 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 J.C. (PLoS ONE 2010) 3 46 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for GDF1 Gene

Sources for GDF1 Gene

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