EDF1 - endothelial differentiation related factor 1 Gene

Homo sapiens

Also known as MBF1; EDF-1; CFAP280

Gene ID: 8721 | Gene type: protein coding

About EDF1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,862,119-136,866,308 (from NCBI)

This gene has 3 transcripts (splice variants) and 223 orthologues. Ubiquitous expression in duodenum (RPKM 113.1), small intestine (RPKM 111.7) and 25 other tissues.

Summary

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 transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

EDF1 Products(5)

mRNA	Protein	Name
NM_001281297.2	NP_001268226.1	endothelial differentiation-related factor 1 isoform 3
NM_001281298.2	NP_001268227.1	endothelial differentiation-related factor 1 isoform 4
NM_001281299.2	NP_001268228.1	endothelial differentiation-related factor 1 isoform 5
NM_003792.4	NP_003783.1	endothelial differentiation-related factor 1 isoform alpha
NM_153200.3	NP_694880.1	endothelial differentiation-related factor 1 isoform beta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables TFIID-class transcription factor complex binding	IDA IDA: Inferred from direct assay	12040021	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10567391	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	10567391	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of DNA binding	IDA IDA: Inferred from direct assay	10567391	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10567391	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	10567391	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10567391	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	10567391	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EDF1 Protein Structure

MBF1

HTH_3

0
100
148 a.a.

Protein Preferred Names

Protein Names

endothelial differentiation-related factor 1

multiprotein bridging factor 1

EDF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EDF1	O60869	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	EDF1	O60869	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	EDF1	O60869	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	EDF1	O60869	NR5A2	Homo sapiens	O00482	Anti Tag CoIP	12040021
Intra	EDF1	O60869	NR1H3	Homo sapiens	Q13133	Y2H	12040021
Intra	EDF1	O60869	NR1H3	Homo sapiens	Q13133	Anti Tag CoIP	12040021
Intra	EDF1	O60869	NR1H3	Homo sapiens	Q13133	Pull Down	12040021
Intra	EDF1	O60869	PPARG	Homo sapiens	P37231	Anti Tag CoIP	12040021
Intra	EDF1	O60869	PPARG	Homo sapiens	P37231	Y2H	12040021
Intra	EDF1	O60869	PPARG	Homo sapiens	P37231	Pull Down	12040021
Intra	EDF1	O60869	ESR1	Homo sapiens	P03372	Phage Display	21217774
Cross	EDF1	O60869	NS	Influenza A virus	P03495	Pull Down	24008843

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EDF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70209	EDF1/MBF1 Protein, Human (His)	O60869 (A2-K148)	≥95%

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 50

DFNA50	Autosomal Dominant Nonsyndromic Deafness 50
Autosomal Dominant Deafness 50	Deafness, Autosomal Dominant, Type 50

Brachydactyly, Type A1

Brachydactyly Type A1	BDA1
Farabee-Type Brachydactyly	Farabee Type Brachydactyly
Brachydactyly Farabee Type	Brachydactyly, Farabee Type
Brachydactyly A1	Brachydactyly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04160	EDF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EDF1	VGNC	VGNC:40197
Bos taurus	EDF1	VGNC	VGNC:28325
Mus musculus	EDF1	MGD	MGI:1891227
Felis catus	EDF1	VGNC	VGNC:61725
Macaca mulatta	EDF1	VGNC	VGNC:72154
Rattus norvegicus	EDF1	RGD	RGD:1308073
Others	EDF1	NCBI

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