Format

Send to:

Choose Destination

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

Gene ID: 8721, updated on 9-Dec-2018

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
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

Genomic context

See EDF1 in Genome Data Viewer
Location:
9q34.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (136862114..136866336, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139756566..139760788, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phosphohistidine phosphatase 1 Neighboring gene MAM domain containing 4 Neighboring gene uncharacterized LOC105376326 Neighboring gene TNF receptor associated factor 2 Neighboring gene microRNA 4479

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9058

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
TFIID-class transcription factor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
endothelial differentiation-related factor 1
Names
multiprotein bridging factor 1

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

  1. NG_029208.1 RefSeqGene

    Range
    4951..9173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281297.1NP_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)
    BM800379, BQ279031, HY029111
    Consensus CDS
    CCDS65193.1
    UniProtKB/Swiss-Prot
    O60869
    Related
    ENSP00000360712.1, ENST00000371649.5
    Conserved Domains (2) summary
    smart00530
    Location:81130
    HTH_XRE; Helix-turn-helix XRE-family like proteins
    pfam08523
    Location:472
    MBF1; Multiprotein bridging factor 1
  2. NM_001281298.1NP_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, BM800379, HY029111, HY170122
    UniProtKB/Swiss-Prot
    O60869
    Conserved Domains (2) summary
    pfam08523
    Location:472
    MBF1; Multiprotein bridging factor 1
    cl26727
    Location:76121
    aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]
  3. NM_001281299.1NP_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, BM800379, HY029111, HY086994
    UniProtKB/Swiss-Prot
    O60869
    Conserved Domains (2) summary
    pfam08523
    Location:472
    MBF1; Multiprotein bridging factor 1
    cl26727
    Location:76124
    aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]
  4. NM_003792.4NP_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
    Related
    ENSP00000224073.1, ENST00000224073.5
    Conserved Domains (2) summary
    pfam08523
    Location:472
    MBF1; Multiprotein bridging factor 1
    cl26727
    Location:48142
    aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]
  5. NM_153200.2NP_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:81129
    HTH_XRE; Helix-turn-helix XRE-family like proteins
    pfam08523
    Location:472
    MBF1; Multiprotein bridging factor 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    136862114..136866336 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center