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

Summary

Official Symbol: EDF1provided by HGNC
Official Full Name: endothelial differentiation related factor 1provided by HGNC
Primary source: HGNC:HGNC:3164
See related: Ensembl:ENSG00000107223 MIM:605107; AllianceGenome:HGNC:3164
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; CFAP280
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]
Expression: Ubiquitous expression in duodenum (RPKM 113.1), small intestine (RPKM 111.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136862119..136866308, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149096300..149100489, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139756571..139760760, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EDF1 coordinates cellular responses to ribosome collisions.
Title: EDF1 coordinates cellular responses to ribosome collisions.
EDF1 is required for VEGF-induced activation of the transcriptional activity of PPARgamma in HUVEC cells.
Title: The Contribution of EDF1 to PPARγ Transcriptional Activation in VEGF-Treated Human Endothelial Cells.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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 Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S2053 (e-PCR)
- UniSTS:31883

D9S1009E (e-PCR)
- UniSTS:151257

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables TFIID-class transcription factor complex binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in endothelial cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of lipid metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: endothelial differentiation-related factor 1

Names: multiprotein bridging factor 1

NCBI Reference Sequences (RefSeq)

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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

4979..9168

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001281297.2 → NP_001268226.1 endothelial differentiation-related factor 1 isoform 3

See identical proteins and their annotated locations for NP_001268226.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3'-terminal exon, which leads to a translational frameshift, compared to variant alpha. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform alpha.

Source sequence(s)

BQ279031, HY029111

Consensus CDS

CCDS65193.1

UniProtKB/Swiss-Prot

O60869

Related

ENSP00000360712.1, ENST00000371649.5

Conserved Domains (2) summary

smart00530
Location:81 → 130

HTH_XRE; Helix-turn-helix XRE-family like proteins

pfam08523
Location:4 → 72

MBF1; Multiprotein bridging factor 1
NM_001281298.2 → NP_001268227.1 endothelial differentiation-related factor 1 isoform 4

See identical proteins and their annotated locations for NP_001268227.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant alpha. The encoded isoform (4) is shorter, compared to isoform alpha.

Source sequence(s)

BC015500, HY170122

UniProtKB/Swiss-Prot

O60869

Conserved Domains (2) summary

cl26727
Location:76 → 121

aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]

pfam08523
Location:5 → 71

MBF1; Multiprotein bridging factor 1
NM_001281299.2 → NP_001268228.1 endothelial differentiation-related factor 1 isoform 5

See identical proteins and their annotated locations for NP_001268228.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice site in the central coding region, compared to variant alpha. The encoded isoform (5) is shorter, compared to isoform alpha.

Source sequence(s)

BC015500, HY029111, HY086994

UniProtKB/Swiss-Prot

O60869

Conserved Domains (2) summary

cl26727
Location:76 → 124

aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]

pfam08523
Location:5 → 71

MBF1; Multiprotein bridging factor 1
NM_003792.4 → NP_003783.1 endothelial differentiation-related factor 1 isoform alpha

See identical proteins and their annotated locations for NP_003783.1

Status: REVIEWED

Description

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

Source sequence(s)

BC015500, HY029111

Consensus CDS

CCDS7011.1

UniProtKB/Swiss-Prot

O60869, Q5T5T2, Q9UIM1

Related

ENSP00000224073.1, ENST00000224073.6

Conserved Domains (2) summary

cl26727
Location:48 → 142

aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]

pfam08523
Location:5 → 71

MBF1; Multiprotein bridging factor 1
NM_153200.3 → NP_694880.1 endothelial differentiation-related factor 1 isoform beta

See identical proteins and their annotated locations for NP_694880.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta) differs its 3' UTR and 3' coding region, compared to variant alpha. The encoded isoform (beta) has a shorter and distinct C-terminus, compared to isoform alpha.

Source sequence(s)

AA325420, BC015500, BI833652, HY029111

Consensus CDS

CCDS7012.1

UniProtKB/Swiss-Prot

O60869

Related

ENSP00000360711.4, ENST00000371648.4

Conserved Domains (2) summary

smart00530
Location:81 → 129

HTH_XRE; Helix-turn-helix XRE-family like proteins

pfam08523
Location:4 → 72

MBF1; Multiprotein bridging factor 1