• Gene id: 8721

Gene Summary

• Gene Symbol: EDF1   Gene   UCSC   Ensembl
• Aliases: CFAP280, EDF-1, MBF1
• Gene name: endothelial differentiation related factor 1
• Alternate names: endothelial differentiation-related factor 1, multiprotein bridging factor 1,
• Gene location: 9q34.3 (101219785: 101264496)     Exons: 24     NC_000023.11
• Gene summary(Entrez): This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general
• OMIM: 605107

Protein Summary

• Protein general information: O60869  
  • Name: Endothelial differentiation related factor 1 (EDF 1) (Multiprotein bridging factor 1) (MBF1)
  • Length: 148  
  • Mass: 16369
  • Tissue specificity: Expressed in brain, liver, lung, kidney and heart (at protein level). Ubiquitously expressed. More abundant in heart, pancreas, liver, intestine and adipose tissues. {ECO
• Sequence:

  MAESDWDTVTVLRKKGPTAAQAKSKQAILAAQRRGEDVETSKKWAAGQNKQHSITKNTAKLDRETEELHHDRVTL
  EVGKVIQQGRQSKGLTQKDLATKINEKPQVIADYESGRAIPNNQVLGKIERAIGLKLRGKDIGKPIEKGPRAK

• Structural information:
  • Protein Domains: (81..13-)
    (/note="HTH-cro/C1-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00257"-)
  • Interpro: IPR001387  IPR010982  IPR013729  
  • Prosite: PS50943
  • CDD: cd00093
  • PDB: 1X57
  • PDBsum: 1X57
  • STRING: ENSP00000224073
• Other Databases: GeneCards:  EDF1  Malacards:  EDF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0005622	intracellular	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001094	TFIID-class transcription factor complex binding	IDA	molecular function
GO:0043388	positive regulation of DNA binding	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0045446	endothelial cell differentiation	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq