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

    Gene ID: 51575, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.7), brain (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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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
    • 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 (82) 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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.

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