EDF1 endothelial differentiation-related factor 1 [Homo sapiens] - Gene

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Summary

Official Symbol: EDF1provided by HGNC
Official Full Name: endothelial differentiation-related factor 1provided by HGNC
Primary source: HGNC:3164
Locus tag: RP11-216L13.1
See related: Ensembl:ENSG00000107223; HPRD:09235; MIM:605107; Vega:OTTHUMG00000020948
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MBF1; EDF-1; MGC9058
Summary: This gene encodes a protein that may regulate endothelial cell differentiation. It has been postulated that the protein functions as a bridging molecule that interconnects regulatory proteins and the basal transcriptional machinery, thereby modulating the transcription of genes involved in endothelial differentiation. This 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. Two alternatively spliced transcripts which encode distinct proteins have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 9q34.3

Sequence :: Chromosome: 9; NC_000009.11 (139756571..139760738, complement)

See EDF1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

According to this study multiprotein bridging factor 1 and Calmodulin do not interact in vitro as confirmed by NMR spectroscopy and CaM-agarose affinity chromatography.
Title: Human multiprotein bridging factor 1 and Calmodulin do not interact in vitro as confirmed by NMR spectroscopy and CaM-agarose affinity chromatography.
The EDF-1 minimal promoter was characterized.
Title: Characterization of the human EDF-1 minimal promoter: involvement of NFY and Sp1 in the regulation of basal transcription.
Multiprotein bridging factor-1 (MBF-1) is a cofactor for nuclear receptors that regulate lipid metabolism.
Title: Multiprotein bridging factor-1 (MBF-1) is a cofactor for nuclear receptors that regulate lipid metabolism.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat, which affects endothelial functions, downregulates EDF-1 expression both at the RNA and protein levels	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
O60869	P18846	ATF1	HPRD	PubMed
O60869	P15336	ATF2	HPRD	PubMed
O60869	Calmodulin 1	CALM1	HPRD	PubMed
O60869	Calmodulin 3	CALM3	HPRD	PubMed
O60869	P62158	CALM3	HPRD	PubMed
O60869	P16220	CREB1	HPRD	PubMed
O60869	Q13133	NR1H3	HPRD	PubMed
O60869	Q13285	NR5A1	HPRD	PubMed
O60869	O00482	NR5A2	HPRD	PubMed
O60869	P37231	PPARG	HPRD	PubMed
O60869	P17252	PRKCA	HPRD	PubMed
O60869	P19793	RXRA	HPRD	PubMed
O60869	P21675	TAF1	HPRD	PubMed
O60869	P20226	TBP	HPRD	PubMed
BioGRID:114260	BioGRID:107479	CEBPA	BioGRID	PubMed	Reconstituted Complex
BioGRID:114260	BioGRID:109928	JUN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114260	BioGRID:111583	MAPK6	BioGRID	PubMed	Two-hybrid
BioGRID:114260	BioGRID:115373	NR1H3	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114260	BioGRID:108792	NR5A1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114260	BioGRID:108772	NR5A2	BioGRID	PubMed	Reconstituted Complex
BioGRID:114260	BioGRID:110957	NRL	BioGRID	PubMed	Reconstituted Complex
BioGRID:114260	BioGRID:111464	PPARG	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114260	BioGRID:112168	RXRA	BioGRID	PubMed	Reconstituted Complex
BioGRID:114260	BioGRID:112771	TBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114260	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
calmodulin binding	IEA Inferred from Electronic Annotation more info
NOT histone acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
NOT methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
NOT sequence-specific DNA binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
endothelial cell differentiation	TAS Traceable Author Statement more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
regulation of lipid metabolic process	TAS Traceable Author Statement more info	PubMed
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
intracellular	TAS Traceable Author Statement more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
nucleus	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: endothelial differentiation-related factor 1

Names: endothelial differentiation-related factor 1; multiprotein bridging factor 1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029208.1 RefSeqGene

Range

5001..9168

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003792.2 → NP_003783.1 endothelial differentiation-related factor 1 isoform alpha

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) encodes the longer isoform (alpha).

Source sequence(s)

BC015500

Consensus CDS

CCDS7011.1

UniProtKB/Swiss-Prot

O60869

Related

ENSP00000224073, OTTHUMP00000022616, ENST00000224073, OTTHUMT00000055143

Conserved Domains (2) summary

cd00093
Location:78 – 132
Blast Score: 111

HTH_XRE; Helix-turn-helix XRE-family like proteins. Prokaryotic DNA binding proteins belonging to the xenobiotic response element family of transcriptional regulators.

pfam08523
Location:4 – 73
Blast Score: 237

MBF1; Multiprotein bridging factor 1
NM_153200.1 → NP_694880.1 endothelial differentiation-related factor 1 isoform beta

Status: REVIEWED

Description

Transcript Variant: This variant (beta) differs in the 3' UTR and coding region (compared to variant alpha), resulting in a shorter protein with an alternate C-terminus, compared to isoform alpha.

Source sequence(s)

AB002283, BC015500

Consensus CDS

CCDS7012.1

UniProtKB/Swiss-Prot

O60869

Related

ENSP00000360711, OTTHUMP00000022617, ENST00000371648, OTTHUMT00000055144

Conserved Domains (2) summary

cd00093
Location:78 – 129
Blast Score: 110

HTH_XRE; Helix-turn-helix XRE-family like proteins. Prokaryotic DNA binding proteins belonging to the xenobiotic response element family of transcriptional regulators.

pfam08523
Location:4 – 73
Blast Score: 243

MBF1; Multiprotein bridging factor 1

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

139756571..139760738, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

109215788..109219955, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL355987.31	CAI12697.1
		CAI12698.1
		CAI12699.1
genomic	CH471090.1	EAW88296.1
		EAW88297.1
		EAW88298.1
genomic	CS185530.1	CAJ42711.1
genomic	HH770500.1	CBX85963.1
genomic	HH770560.1	CBX85993.1
mRNA	AB002282.1	BAA88073.1
mRNA	AB002283.2	BAA88074.1
mRNA	BC015500.1	AAH15500.1
mRNA	BT009863.1	AAP88865.1
mRNA	CR541914.1	CAG46712.1
other-genetic	DQ891577.2	ABM82503.1
other-genetic	DQ894770.2	ABM85696.1