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  2. EDF1 - endothelial differentiation related factor 1 Gene

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

MBF1: Multiprotein bridging factor 1 (4 - 73)

HTH_3

HTH_3: Helix-turn-helix (81 - 132)

  • 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

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