• Gene id: 2657

Gene Summary

• Gene Symbol: GDF1   Gene   UCSC   Ensembl
• Aliases: CERS1, CHTD6, DORV, DTGA3, LAG1, LASS1, RAI, UOG1
• Gene name: growth differentiation factor 1
• Alternate names: embryonic growth/differentiation factor 1, Ceramide synthase 1, GDF-1, LAG1 longevity assurance homolog 1, Longevity assurance gene 1 protein homolog 1, Protein UOG-1,
• Gene location: 19p13.11 (18896157: 18868544)     Exons: 8     NC_000019.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P27539  
  • Name: Embryonic growth/differentiation factor 1 (GDF 1)
  • Length: 372  
  • Mass: 39475
  • Tissue specificity: Expressed in the brain.
• Sequence:

  MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETR
  SGSRRTSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELR
  FAAAAAAAPEGGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPA
  ACARLAEASLLLVTLDPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQC
  ALPVALSGSGGPPALNHAVLRALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000485582
• Other Databases: GeneCards:  GDF1  Malacards:  GDF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Heterotaxy	KEGG:H00632
Tetralogy of Fallot	KEGG:H00549
Congenital heart defects, multiple type	KEGG:H02199
Congenital asplenia	KEGG:H01435
Double-outlet right ventricle	KEGG:H00918
Heterotaxy	KEGG:H00632
Tetralogy of Fallot	KEGG:H00549
Congenital heart defects, multiple type	KEGG:H02199
Complete transposition of the great arteries	KEGG:H00550
Congenital asplenia	KEGG:H01435
Double-outlet right ventricle	KEGG:H00918
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray