ELF1 Gene (Protein Coding)

E74 Like ETS Transcription Factor 1

GC13M040932
GIFtS:
41
This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] See more...

Aliases for ELF1 Gene

Aliases for ELF1 Gene

  • E74 Like ETS Transcription Factor 1 2 3 5
  • E74-Like Factor 1 (Ets Domain Transcription Factor) 2 3
  • ETS-Related Transcription Factor Elf-1 3 4
  • E74-Like Factor 1 4
  • EFTUD1 3
  • RIA1 3
  • ELF1 5

External Ids for ELF1 Gene

Previous GeneCards Identifiers for ELF1 Gene

  • GC13M039492
  • GC13M035492
  • GC13M040442
  • GC13M039304
  • GC13M040404
  • GC13M041506
  • GC13M022305

Summaries for ELF1 Gene

Entrez Gene Summary for ELF1 Gene

  • This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

GeneCards Summary for ELF1 Gene

ELF1 (E74 Like ETS Transcription Factor 1) is a Protein Coding gene. Diseases associated with ELF1 include Retinoblastoma and Intramuscular Hemangioma. Among its related pathways are Immune response IL-2 activation and signaling pathway and Regulation of retinoblastoma protein. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ELF4.

UniProtKB/Swiss-Prot Summary for ELF1 Gene

  • Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer.

Additional gene information for ELF1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELF1 Gene

Genomics for ELF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ELF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH13J041056 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.1 147 9.7 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC ZNF600 ZNF580 ZNF592 KLF9 WBP4 ELF1 TRE-TTC1-2 NAA16 TPTE2P5 LINC00548 MTRF1 RNU6-57P CYCSP34 lnc-KBTBD6-1
GH13J041014 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 265.2 +43.3 43323 8.2 BCLAF1 SP1 MYC SSRP1 JUND ZNF592 POLR2A CEBPA ATF3 YY1 ELF1 lnc-KBTBD6-4 WBP4 SLC25A15 RGCC NAA16 RGS17P1
GH13J040976 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 269.8 +79.5 79471 10.7 NCOR1 ZNF600 IKZF1 MYC ZNF592 ATF2 YY1 FEZF1 MNT IRF2 ELF1 WBP4 CYCSP34 SUGT1P3 RGCC NAA16 FOXO1 piR-54131-001 piR-56759-139 SLC25A15
GH13J040770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12 +290.4 290439 2.4 BCLAF1 SP1 ZNF207 MYC ZNF600 SIX5 SSRP1 ZNF580 ATF2 KLF9 HSALNG0096575 MRPS31 LINC00548 NAA16 ELF1 FOXO1 SLC25A15 HSALNG0096576
GH13J041001 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 12.5 +56.1 56098 8.1 SP1 NCOR1 POLR2A CEBPA ATF3 CHD4 YY1 BCL11A CTCF CEBPB WBP4 ELF1 TPTE2P5 CYCSP34 SLC25A15 RGS17P1 lnc-KBTBD6-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELF1

Top Transcription factor binding sites by QIAGEN in the ELF1 gene promoter:
  • AML1a
  • AP-1
  • AREB6
  • C/EBPbeta
  • FAC1
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • p53

Genomic Locations for ELF1 Gene

Latest Assembly
chr13:40,931,919-41,061,440
(GRCh38/hg38)
Size:
129,522 bases
Orientation:
Minus strand

Previous Assembly
chr13:41,506,055-41,635,522
(GRCh37/hg19 by Entrez Gene)
Size:
129,468 bases
Orientation:
Minus strand

chr13:41,506,056-41,635,576
(GRCh37/hg19 by Ensembl)
Size:
129,521 bases
Orientation:
Minus strand

Genomic View for ELF1 Gene

Genes around ELF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ELF1 Gene

Proteins for ELF1 Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for ELF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32519-ELF1_HUMAN
    Recommended name:
    ETS-related transcription factor Elf-1
    Protein Accession:
    P32519
    Secondary Accessions:
    • B4E2I5
    • E9PDQ9
    • Q8N6F6
    • Q9UDE1

    Protein attributes for ELF1 Gene

    Size:
    619 amino acids
    Molecular mass:
    67498 Da
    Quaternary structure:
    • Binds to the underphosphorylated form of RB. May interact with other transcription factors in order to regulate specific genes. Interacts with RUNX1.

    Alternative splice isoforms for ELF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELF1 Gene

Protein Expression for ELF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ELF1 Gene

  • Ubiquitination at Lys571
  • Modification sites at PhosphoSitePlus

Other Protein References for ELF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELF1 Gene

Domains & Families for ELF1 Gene

Gene Families for ELF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ELF1 Gene

InterPro:

Suggested Antigen Peptide Sequences for ELF1 Gene

GenScript: Design optimal peptide antigens:
  • E74-like factor 1 (ELF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P32519

UniProtKB/Swiss-Prot:

ELF1_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ELF1: view

Function for ELF1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for ELF1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer.
GENATLAS Biochemistry:
E74-like factor 1,ETS transcription regulator family,expressed in lymphoid and myeloid cells,binding to both the Ets binding sites (EBS1,EBS2) of IL2 enhancer,also binding to RB1 in resting normal T cells

Phenotypes From GWAS Catalog for ELF1 Gene

Gene Ontology (GO) - Molecular Function for ELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 8756667
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 8756667
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA,IDA 14970218
genes like me logo Genes that share ontologies with ELF1: view
genes like me logo Genes that share phenotypes with ELF1: view

Animal Models for ELF1 Gene

MGI Knock Outs for ELF1:

Animal Models for research

Targeted motifs for ELF1 Gene
HOMER Transcription Factor Regulatory Elements motif ELF1
  • Consensus sequence: AACCGGAAGT Submotif: canonical Cell Type: Jurkat GEO ID: SRA014231

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for ELF1 Gene

Localization for ELF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELF1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELF1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 19674970
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ELF1: view

Pathways & Interactions for ELF1 Gene

PathCards logo

SuperPathways for ELF1 Gene

genes like me logo Genes that share pathways with ELF1: view

Pathways by source for ELF1 Gene

2 GeneGo (Thomson Reuters) pathways for ELF1 Gene
  • Immune response IL-2 activation and signaling pathway
  • Immune response IL-3 activation and signaling pathway

SIGNOR curated interactions for ELF1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001959 regulation of cytokine-mediated signaling pathway TAS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0030154 cell differentiation IBA 21873635
GO:0045893 positive regulation of transcription, DNA-templated NAS 1527846
genes like me logo Genes that share ontologies with ELF1: view

Drugs & Compounds for ELF1 Gene

Products:

  1. Drug products for research

(1) Additional Compounds for ELF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ELF1: view

Transcripts for ELF1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
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  4. Clone products for research

mRNA/cDNA for ELF1 Gene

6 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELF1

Alternative Splicing Database (ASD) splice patterns (SP) for ELF1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: - - -
SP6: -
SP7: -

Relevant External Links for ELF1 Gene

GeneLoc Exon Structure for
ELF1

Expression for ELF1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELF1 Gene

mRNA expression in normal human tissues for ELF1 Gene
mRNA expression by GTEx for ELF1 GenemRNA expression by BioGPS for ELF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELF1 Gene

This gene is overexpressed in CD8 Tcells (25.1), Peripheral blood mononuclear cells (11.8), Blymphocyte (9.9), and NK cells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELF1 Gene



Protein tissue co-expression partners for ELF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELF1

SOURCE GeneReport for Unigene cluster for ELF1 Gene:

Hs.135646

mRNA Expression by UniProt/SwissProt for ELF1 Gene:

P32519-ELF1_HUMAN
Tissue specificity: In fetal tissues, it is highly expressed in heart, lung liver and kidney, and weakly expressed in brain. In adult, it is highly expressed in pancreas, spleen, thymus and peripheral blood leukocytes, expressed at moderate levels in heart, placenta, lung, liver, skeletal muscle, kidney, prostate, ovary, small intestine and colon, and weakly expressed in brain and testis.

Evidence on tissue expression from TISSUES for ELF1 Gene

  • Liver(4.4)
  • Nervous system(2.8)
  • Blood(2.3)
  • Spleen(2.2)
  • Heart(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with ELF1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELF1 Gene

Orthologs for ELF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ELF1 29 30
  • 99.78 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ELF1 29 30
  • 91.87 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Elf1 29 16 30
  • 87.67 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ELF1 29 30
  • 87.62 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Elf1 29
  • 86.29 (n)
Oppossum
(Monodelphis domestica)
 Mammalia ELF1 30
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ELF1 30
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ELF1 29 30
  • 76.44 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ELF1 30
  • 66 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia elf1 29
  • 70.31 (n)
African clawed frog
(Xenopus laevis)
 Amphibia elf-1-prov 29
Zebrafish
(Danio rerio)
 Actinopterygii ef1 29
  • 62.1 (n)
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1074 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Eip74EF 31
  • 76 (a)
Worm
(Caenorhabditis elegans)
 Secernentea C24A1.2 31
  • 69 (a)
ets-8 30
  • 34 (a)
 ManyToMany
elf-1 30
  • 26 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 27 (a)
 OneToMany
Species where no ortholog for ELF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ELF1 Gene

ENSEMBL:
Gene Tree for ELF1 (if available)
TreeFam:
Gene Tree for ELF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELF1: view image
Alliance of Genome Resources:
Additional Orthologs for ELF1

Paralogs for ELF1 Gene

Paralogs for ELF1 Gene

(4) SIMAP similar genes for ELF1 Gene using alignment to 3 proteins:

  • ELF1_HUMAN
  • L8E9U9_HUMAN
  • Q5T9E7_HUMAN
genes like me logo Genes that share paralogs with ELF1: view

Variants for ELF1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELF1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs115657038 Benign: not provided 40,933,443(-) C/T
NM_172373.4(ELF1):c.1842G>A (p.Leu614=) 		SYNONYMOUS
rs151034333 Benign: not provided 40,941,085(-) T/A
NM_172373.4(ELF1):c.1092A>T (p.Pro364=) 		SYNONYMOUS
rs1056820 -- p.Thr343Ser
rs7323148 -- p.Thr403Ile
rs7799 -- p.Asn58Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ELF1 Gene

Variant ID Type Subtype PubMed ID
dgv986e59 CNV tandem duplication 20981092
esv1709140 CNV deletion 17803354
esv2672182 CNV deletion 23128226
esv2747296 CNV deletion 23290073
esv2747298 CNV deletion 23290073
esv3373421 CNV duplication 20981092
nsv561538 CNV loss 21841781
nsv64500 CNV deletion 16902084
nsv952542 CNV duplication 24416366

Variation tolerance for ELF1 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.00; 97.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELF1
Leiden Open Variation Database (LOVD)
ELF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELF1 Gene

Disorders for ELF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ELF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
retinoblastoma
  • rb1
intramuscular hemangioma
  • intramuscular angioma
t-cell lymphoblastic leukemia/lymphoma
  • t-cell leukemia
- elite association - COSMIC cancer census association via MalaCards
Search ELF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ELF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ELF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELF1 Gene

Publications for ELF1 Gene

  1. cis-acting sequences required for inducible interleukin-2 enhancer function bind a novel Ets-related protein, Elf-1. (PMID: 1545787) Thompson CB … Karpinski B (Molecular and cellular biology 1992) 2 3 4 22
  2. Cloning of a novel human ELF-1-related ETS transcription factor, ELFR, its characterization and chromosomal assignment relative to ELF-1. (PMID: 9524226) Aryee DN … Kovar H (Gene 1998) 3 4 22
  3. Characterization of NERF, a novel transcription factor related to the Ets factor ELF-1. (PMID: 8756667) Oettgen P … Libermann TA (Molecular and cellular biology 1996) 3 4 22
  4. Regulation of the Ets-related transcription factor Elf-1 by binding to the retinoblastoma protein. (PMID: 8493578) Wang CY … Leiden JM (Science (New York, N.Y.) 1993) 3 4 22
  5. A novel Ets-related transcription factor, Elf-1, binds to human immunodeficiency virus type 2 regulatory elements that are required for inducible trans activation in T cells. (PMID: 1527846) Leiden JM … Thompson CB (Journal of virology 1992) 3 4 22

ExternalLinks

View latest publications for ELF1 gene in Mastermind

Products for ELF1 Gene

  • Addgene plasmids for ELF1

Sources for ELF1 Gene