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

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

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

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