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ESF1 ESF1 nucleolar pre-rRNA processing protein homolog [ Homo sapiens (human) ]

Gene ID: 51575, updated on 3-Nov-2024

Summary

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Official Symbol
ESF1provided by HGNC
Official Full Name
ESF1 nucleolar pre-rRNA processing protein homologprovided by HGNC
Primary source
HGNC:HGNC:15898
See related
Ensembl:ENSG00000089048 MIM:618765; AllianceGenome:HGNC:15898
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABTAP; C20orf6; HDCMC28P; bA526K24.1
Summary
Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 6.7), brain (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ESF1 in Genome Data Viewer
Location:
20p12.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13714325..13784919, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (13757729..13828638, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13694972..13765565, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene taspase 1 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr20:13516637-13517168 Neighboring gene Sharpr-MPRA regulatory region 15076 Neighboring gene Sharpr-MPRA regulatory region 9064 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:13618936-13619436 Neighboring gene Sharpr-MPRA regulatory region 128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:13765895-13766584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12680 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 5 Neighboring gene SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase Neighboring gene RNA, U6 small nuclear 278, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human RPF1 and ESF1 in Pre-rRNA Processing and the Assembly of Pre-Ribosomal Particles: A Functional Study. Deryabin A, et al. Cells, 2024 Feb 10. PMID 38391939, Free PMC Article
  2. ABT1-associated protein (ABTAP), a novel nuclear protein conserved from yeast to mammals, represses transcriptional activation by ABT1. Oda T, et al. J Cell Biochem, 2004 Nov 1. PMID 15660422
  3. Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. Benyamin B, et al. Mol Psychiatry, 2014 Feb. PMID 23358156, Free PMC Article
  4. Screen and identification of proteins interacting with ADAM19 cytoplasmic tail. Huang L, et al. Mol Biol Rep, 2002 Sep. PMID 12463424
  5. TRAF4 promotes TGF-β receptor signaling and drives breast cancer metastasis. Zhang L, et al. Mol Cell, 2013 Sep 12. PMID 23973329

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human RPF1 and ESF1 in Pre-rRNA Processing and the Assembly of Pre-Ribosomal Particles: A Functional Study.
    Title: Human RPF1 and ESF1 in Pre-rRNA Processing and the Assembly of Pre-Ribosomal Particles: A Functional Study.
  2. The Rattus rattus ABT1-associated protein formed a complex with ABT1 and suppressed activation of Pol II-directed transcription in mammalian cells. It binds and negatively regulates ABT1.
    Title: ABT1-associated protein (ABTAP), a novel nuclear protein conserved from yeast to mammals, represses transcriptional activation by ABT1.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20368

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular space HDA PubMed 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ESF1 homolog
Names
ABT1-associated protein

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.

mRNA and Protein(s)

  1. NM_001276380.2 → NP_001263309.1  ESF1 homolog

    See identical proteins and their annotated locations for NP_001263309.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK000375, AK074299, AL161659, DA472223
    Consensus CDS
    CCDS13117.1
    UniProtKB/Swiss-Prot
    Q86X92, Q9H501, Q9H9Q5, Q9HA35, Q9NX93, Q9P1S6
    Related
    ENSP00000480783.2, ENST00000617257.2
    Conserved Domains (2) summary
    COG5638
    Location:301 → 836
    COG5638; Uncharacterized conserved protein [Function unknown]
    pfam08159
    Location:759 → 787
    NUC153; NUC153 domain

  2. NM_016649.4 → NP_057733.2  ESF1 homolog

    See identical proteins and their annotated locations for NP_057733.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK000375, AK074299, AL161659
    Consensus CDS
    CCDS13117.1
    UniProtKB/Swiss-Prot
    Q86X92, Q9H501, Q9H9Q5, Q9HA35, Q9NX93, Q9P1S6
    Related
    ENSP00000202816.1, ENST00000202816.5
    Conserved Domains (2) summary
    COG5638
    Location:301 → 836
    COG5638; Uncharacterized conserved protein [Function unknown]
    pfam08159
    Location:759 → 787
    NUC153; NUC153 domain

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    13714325..13784919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027874.3 → XP_016883363.1  ESF1 homolog isoform X1

    UniProtKB/Swiss-Prot
    Q86X92, Q9H501, Q9H9Q5, Q9HA35, Q9NX93, Q9P1S6
    Conserved Domains (2) summary
    COG5638
    Location:301 → 836
    COG5638; Uncharacterized conserved protein [Function unknown]
    pfam08159
    Location:759 → 787
    NUC153; NUC153 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    13757729..13828638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323490.1 → XP_054179465.1  ESF1 homolog isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H501.1 GenPept UniProtKB/Swiss-Prot:Q9H501

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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