GDF1 (growth differentiation factor 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2657
Gene name Growth differentiation factor 1
Gene symbol GDF1
Synonyms (NCBI Gene)
CERS1CHTD6DORVDTGA3LAG1LASS1RAIUOG1
Chromosome 19
Chromosome location 19p13.11
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 ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602880 4214 ENSG00000130283
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27539
Protein name Embryonic growth/differentiation factor 1 (GDF-1)
Protein function May mediate cell differentiation events during embryonic development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 266 → 371 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain.
Sequence 
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPP
VMWRLFRRRDPQETRSGSRRTSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASA
AGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPEGGWELSVAQAGQGAGADPGP
VLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQC
ALPVALSGSGGPPALNHAVLRALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQ
YEDMVVDECGCR
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cytokine-cytokine receptor interaction  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
48
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital heart defects, multiple types Likely pathogenic; Pathogenic rs374016704 RCV005417383
Congenital heart defects, multiple types, 6 Likely pathogenic; Pathogenic rs768027510, rs374016704, rs606231383, rs900625437 RCV002470862
RCV000625716
RCV005357431
RCV001254622
Heart, malformation of Likely pathogenic; Pathogenic rs374016704 RCV001836851
Heterotaxy Likely pathogenic; Pathogenic rs1359321518 RCV001732105
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Double outlet right ventricle Uncertain significance rs121434423 RCV000007140
GDF1-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs1467016544, rs768421187, rs121434423, rs864622513, rs1394561582, rs1568289554, rs2512953768, rs1351573913, rs1232378665, rs747125941, rs749512657, rs948898162, rs760908706, rs551588378 RCV003938681
RCV003938732
RCV003421909
RCV003947670
RCV003420521
RCV003399783
RCV003402256
RCV003414589
RCV003896711
RCV003949437
RCV003956935
RCV003966894
RCV003419979
RCV003962558
Show/Hide Text Mining Associations (26)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Inhibit 16817948
Atrioventricular Septal Defect Associate 26656983
Autistic Disorder Associate 28991257
Autoimmune Diseases Associate 38175205
Breast Neoplasms Associate 18289367, 18588689
Carcinoma Hepatocellular Associate 34880251
Colorectal Neoplasms Associate 16817948, 27111221
Colorectal Neoplasms Inhibit 16914027
Colorectal Neoplasms Stimulate 38175205
Heart Defects Congenital Associate 26656983, 28991257, 34328347