GDF1 (growth differentiation factor 1)

Gene

• Entrez ID: 2657
• Gene name: Growth differentiation factor 1
• Gene symbol: GDF1
• Synonyms (NCBI Gene): CERS1, CHTD6, DORV, DTGA3, LAG1, LASS1, RAI, UOG1
• 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)

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
GO:0005615	Component	Extracellular space	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0090092	Process	Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA

Other IDs

• MIM: 602880
• HGNC: 4214
• e!Ensembl: ENSG00000130283

Protein

• 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

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital heart defects, multiple types	Likely pathogenic; Pathogenic	rs374016704	RCV005417383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects, multiple types, 6	Likely pathogenic; Pathogenic	rs768027510, rs374016704, rs606231383, rs900625437	RCV002470862 RCV000625716 RCV005357431 RCV001254622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Likely pathogenic; Pathogenic	rs374016704	RCV001836851	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy	Likely pathogenic; Pathogenic	rs1359321518	RCV001732105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Right atrial isomerism	Likely pathogenic; Pathogenic	rs768027510, rs1555702261, rs753643819, rs374016704, rs606231383, rs1359321518	RCV005027530 RCV003147471 RCV000625715 RCV005357824 RCV000055616 RCV005253777	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Visceral heterotaxy	Pathogenic	rs1601143502	RCV000824223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL CARDIAC DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISCORDANT VENTRICULOARTERIAL CONNECTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double outlet right ventricle	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GDF1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT ISOMERISM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF GREAT VESSELS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations