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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. GO annotations related to this gene include poly(A) RNA binding.

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

Regulatory Elements for ESF1 Gene

Enhancers for ESF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H013735 0.2 ENCODE 11.7 +47.9 47877 2.3 NDUFAF5 ESF1 GC20M013782 TASP1
GH20H013335 1.1 FANTOM5 ENCODE 1.2 +448.1 448096 2.1 ELF3 SOX13 ZNF792 SAP130 ZNF644 RARA RELA ATF7 CREM HOMEZ ESF1 ENSG00000278153 ENSG00000225956
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESF1 on UCSC Golden Path with GeneCards custom track

Promoters for ESF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000134894 -167 2601 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B

Transcription factor binding sites by QIAGEN in the ESF1 gene promoter:

Genomic Locations for ESF1 Gene

Genomic Locations for ESF1 Gene
chr20:13,714,322-13,784,933
(GRCh38/hg38)
Size:
70,612 bases
Orientation:
Minus strand
chr20:13,694,969-13,765,532
(GRCh37/hg19)

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:
    Q9H501-ESF1_HUMAN
    Recommended name:
    ESF1 homolog
    Protein Accession:
    Q9H501
    Secondary Accessions:
    • Q86X92
    • Q9H9Q5
    • Q9HA35
    • Q9NX93
    • Q9P1S6

    Protein attributes for ESF1 Gene

    Size:
    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).
    SequenceCaution:
    • 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 posLast=184184
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H501

UniProtKB/Swiss-Prot:

ESF1_HUMAN :
  • Belongs to the ESF1 family.
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 IDA 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

Inhibitory RNA Products

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

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 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 IDA 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

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

No ASD Table

Relevant External Links for ESF1 Gene

GeneLoc Exon Structure for
ESF1
ECgene alternative splicing isoforms for
ESF1

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, PaxDb, MaxQB, and MOPED for ESF1 Gene



Protein tissue co-expression partners for ESF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESF1 Gene:

ESF1

SOURCE GeneReport for Unigene cluster for ESF1 Gene:

Hs.369284

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ESF1 33 34
  • 95.92 (n)
dog
(Canis familiaris)
Mammalia ESF1 34 33
  • 88.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ESF1 34 33
  • 88.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Esf1 33 16 34
  • 85.11 (n)
rat
(Rattus norvegicus)
Mammalia Esf1 33
  • 84.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ESF1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESF1 33 34
  • 69.49 (n)
lizard
(Anolis carolinensis)
Reptilia ESF1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.479 33
zebrafish
(Danio rerio)
Actinopterygii esf1 33 34
  • 64.7 (n)
wufe06g12 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5651 33
fruit fly
(Drosophila melanogaster)
Insecta CG11417 33 34
  • 52.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003294 33
  • 52.41 (n)
worm
(Caenorhabditis elegans)
Secernentea F58B3.4 34
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESF1 34 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10539 34
  • 42 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ESF1 (if available)
TreeFam:
Gene Tree for ESF1 (if available)

Paralogs for ESF1 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs576780935 Pathogenic 13,785,112(+) ACCTT(A/G)GGCGG nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs146837138 Likely pathogenic 13,785,246(+) GGGCA(A/G)CCCGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs531254130 Likely pathogenic 13,785,223(+) TTTGA(A/C)AAGGA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs113590461 Likely benign 13,785,068(+) CTGGA(C/G)ATGCT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs147117631 Likely benign 13,785,258(+) AGCCC(A/G)AGCCG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

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

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)

Relevant External Links for ESF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESF1

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

Disorders for ESF1 Gene

Relevant External Links for ESF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ESF1 Gene

Sources for ESF1 Gene

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