EDF1 - endothelial differentiation related factor 1 Gene

Also Known as MBF1; EDF-1; CFAP280

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8721

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 Références 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 Références Source
involved in positive regulation of DNA binding IDA
IDA: Inferred from direct assay
10567391 GOA
Cellular Component GO Annotation Evidence Références 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

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

EDF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
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. Nom du produit Accession Pureté
HY-P70209 EDF1/MBF1 Protein, Human (His) O60869 (A2-K148) ≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS04160 EDF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18928 Edf1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25418 Edf1 Rat Pre-designed siRNA Set A Pre-designed Set / 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