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Aliases for ESF1 Gene

Aliases for ESF1 Gene

  • ESF1 Nucleolar Pre-RRNA Processing Protein Homolog 2 3 5
  • ABT1-Associated Protein 3 4
  • C20orf6 3 4
  • ABTAP 3 4
  • ESF1, Nucleolar Pre-RRNA Processing Protein, Homolog (S. Cerevisiae) 2
  • Chromosome 20 Open Reading Frame 6 2
  • ESF1 Homolog 3
  • BA526K24.1 3
  • HDCMC28P 3

External Ids for ESF1 Gene

Previous HGNC Symbols for ESF1 Gene

  • C20orf6

Summaries for ESF1 Gene

GeneCards Summary for ESF1 Gene

ESF1 (ESF1 Nucleolar Pre-RRNA Processing Protein Homolog) is a Protein Coding gene.

UniProtKB/Swiss-Prot for ESF1 Gene

  • May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity).

Gene Wiki entry for ESF1 Gene

Additional gene information for ESF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESF1 Gene

Genomics for ESF1 Gene

GeneHancer (GH) Regulatory Elements for ESF1 Gene

Promoters and enhancers for ESF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J013783 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.2 -221 3.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A NDUFAF5 ESF1 GC20M013782 GC20P013817
GH20J013735 Enhancer 0.3 ENCODE 11.7 +47.9 47877 2.3 ZNF614 NDUFAF5 ESF1 GC20M013782 TASP1
GH20J013335 Enhancer 1 FANTOM5 ENCODE 1.2 +448.1 448096 2.1 ELF3 SIN3A ZNF48 RARA ETS1 ZNF614 ATF7 CREM IKZF2 THAP11 ESF1 ENSG00000278153 ENSG00000225956
GH20J013777 Enhancer 0.8 Ensembl ENCODE 0.4 +7.5 7539 0.4 JUN JUNB FOSL1 ZNF366 ZNF629 IKZF1 EED CREB1 FOS FOSL2 NDUFAF5 ESF1 GC20M013782 TASP1
GH20J013753 Enhancer 0.3 FANTOM5 0.3 +31.0 31030 0.4 MAFK GC20M013782 ESF1 TASP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESF1 gene promoter:
  • TBP
  • IRF-1

Genomic Locations for ESF1 Gene

Genomic Locations for ESF1 Gene
70,612 bases
Minus strand
70,564 bases
Minus strand

Genomic View for ESF1 Gene

Genes around ESF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESF1 Gene

Proteins for ESF1 Gene

  • Protein details for ESF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ESF1 homolog
    Protein Accession:
    Secondary Accessions:
    • Q86X92
    • Q9H9Q5
    • Q9HA35
    • Q9NX93
    • Q9P1S6

    Protein attributes for ESF1 Gene

    851 amino acids
    Molecular mass:
    98796 Da
    Quaternary structure:
    • Interacts with ABT1. Forms a complex with ABT1 and suppresses the ABT1-induced activation of polymerase II-directed transcription in mammalian cells (By similarity).
    • Sequence=AAF65504.1; Type=Frameshift; Positions=664; Evidence={ECO:0000305}; Sequence=BAA91123.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB14167.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ESF1 Gene

Post-translational modifications for ESF1 Gene

  • Ubiquitination at isoforms=184
  • Modification sites at PhosphoSitePlus

Other Protein References for ESF1 Gene

No data available for DME Specific Peptides for ESF1 Gene

Domains & Families for ESF1 Gene

Gene Families for ESF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ESF1 Gene


Suggested Antigen Peptide Sequences for ESF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ESF1 family.
  • Belongs to the ESF1 family.
genes like me logo Genes that share domains with ESF1: view

Function for ESF1 Gene

Molecular function for ESF1 Gene

UniProtKB/Swiss-Prot Function:
May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity).

Phenotypes From GWAS Catalog for ESF1 Gene

Gene Ontology (GO) - Molecular Function for ESF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with ESF1: view
genes like me logo Genes that share phenotypes with ESF1: view

Animal Model Products

CRISPR Products

miRNA for ESF1 Gene

miRTarBase miRNAs that target ESF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ESF1 Gene

Localization for ESF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESF1 Gene

Nucleus, nucleolus. Nucleus, nucleoplasm.

Subcellular locations from

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 ESF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ESF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with ESF1: view

Pathways & Interactions for ESF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ESF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ESF1: view

No data available for Pathways by source and SIGNOR curated interactions for ESF1 Gene

Drugs & Compounds for ESF1 Gene

No Compound Related Data Available

Transcripts for ESF1 Gene

mRNA/cDNA for ESF1 Gene

Unigene Clusters for ESF1 Gene

ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESF1

Alternative Splicing Database (ASD) splice patterns (SP) for ESF1 Gene

No ASD Table

Relevant External Links for ESF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ESF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESF1 Gene

Protein differential expression in normal tissues from HIPED for ESF1 Gene

This gene is overexpressed in Breast (14.3), Plasma (14.3), and Pancreas (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ESF1 Gene

Protein tissue co-expression partners for ESF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESF1 Gene:


SOURCE GeneReport for Unigene cluster for ESF1 Gene:


Evidence on tissue expression from TISSUES for ESF1 Gene

  • Spleen(4.3)
  • Liver(4.2)
  • Lymph node(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with ESF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESF1 Gene

Orthologs for ESF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ESF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ESF1 34 33
  • 95.92 (n)
(Canis familiaris)
Mammalia ESF1 34 33
  • 88.34 (n)
(Bos Taurus)
Mammalia ESF1 34 33
  • 88.04 (n)
(Mus musculus)
Mammalia Esf1 16 34 33
  • 85.11 (n)
(Rattus norvegicus)
Mammalia Esf1 33
  • 84.57 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
-- 34
  • 70 (a)
(Monodelphis domestica)
Mammalia ESF1 34
  • 72 (a)
(Gallus gallus)
Aves ESF1 34 33
  • 69.49 (n)
(Anolis carolinensis)
Reptilia ESF1 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.479 33
(Danio rerio)
Actinopterygii esf1 34 33
  • 64.7 (n)
wufe06g12 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5651 33
fruit fly
(Drosophila melanogaster)
Insecta CG11417 34 33
  • 52.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003294 33
  • 52.41 (n)
(Caenorhabditis elegans)
Secernentea F58B3.4 34
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESF1 36 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10539 34
  • 42 (a)
Species where no ortholog for ESF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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 ESF1 Gene

Gene Tree for ESF1 (if available)
Gene Tree for ESF1 (if available)
Evolutionary constrained regions (ECRs) for ESF1: view image

Paralogs for ESF1 Gene Pseudogenes for ESF1 Gene

genes like me logo Genes that share paralogs with ESF1: view

No data available for Paralogs for ESF1 Gene

Variants for ESF1 Gene

Sequence variations from dbSNP and Humsavar for ESF1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs531254130 likely-pathogenic, Inborn genetic diseases 13,785,223(-) A/C upstream_transcript_variant
rs146837138 likely-pathogenic, not provided 13,785,246(-) G/A upstream_transcript_variant
rs139219896 conflicting-interpretations-of-pathogenicity, not specified 13,785,251(-) G/C upstream_transcript_variant
rs113590461 likely-benign, not specified 13,785,068(-) G/C upstream_transcript_variant
rs377716355 likely-benign, not specified 13,785,284(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ESF1 Gene

Variant ID Type Subtype PubMed ID
esv1607153 CNV insertion 17803354
esv3304410 CNV mobile element insertion 20981092
esv3308684 CNV mobile element insertion 20981092
esv3411267 CNV insertion 20981092
esv3645289 CNV gain 21293372
nsv1061303 CNV gain 25217958

Variation tolerance for ESF1 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.32; 70.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESF1 Gene

Disorders for ESF1 Gene

Additional Disease Information for ESF1

No disorders were found for ESF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESF1 Gene

Publications for ESF1 Gene

  1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ESF1 Gene

Sources for ESF1 Gene

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