GDF1 (growth differentiation factor 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2657
Gene name Gene Name - the full gene name approved by the HGNC.
Growth differentiation factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDF1
Synonyms (NCBI Gene) Gene synonyms aliases
CERS1, CHTD6, DORV, DTGA3, LAG1, LASS1, RAI, UOG1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez 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 ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602880 4214 ENSG00000130283
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Atrial Isomerism right atrial isomerism rs1555702261, rs753643819, rs606231383 N/A
Congenital heart defects congenital heart defects, multiple types, 6 rs374016704, rs768027510 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Double Outlet Right Ventricle double outlet right ventricle N/A N/A ClinVar
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease 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