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

Gene ID: 8721, updated on 18-Sep-2024

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
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Genomic context

See EDF1 in Genome Data Viewer
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_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20554 Neighboring gene phosphohistidine phosphatase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139752096-139752733 Neighboring gene MAM domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29334 Neighboring gene uncharacterized LOC105376326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139780929-139781664 Neighboring gene TNF receptor associated factor 2 Neighboring gene microRNA 4479

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What'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

Clone Names

  • MGC9058

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA 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 
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

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

  1. NG_029208.1 RefSeqGene

    Range
    4979..9168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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:81130
    HTH_XRE; Helix-turn-helix XRE-family like proteins
    pfam08523
    Location:472
    MBF1; Multiprotein bridging factor 1
  2. NM_001281298.2NP_001268227.1  endothelial differentiation-related factor 1 isoform 4

    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:76121
    aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]
    pfam08523
    Location:571
    MBF1; Multiprotein bridging factor 1
  3. NM_001281299.2NP_001268228.1  endothelial differentiation-related factor 1 isoform 5

    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:76124
    aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]
    pfam08523
    Location:571
    MBF1; Multiprotein bridging factor 1
  4. NM_003792.4NP_003783.1  endothelial differentiation-related factor 1 isoform alpha

    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:48142
    aMBF1; Archaeal ribosome-binding protein aMBF1, putative translation factor, contains Zn-ribbon and HTH domains [Translation, ribosomal structure and biogenesis]
    pfam08523
    Location:571
    MBF1; Multiprotein bridging factor 1
  5. NM_153200.3NP_694880.1  endothelial differentiation-related factor 1 isoform beta

    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    136862119..136866308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149096300..149100489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)