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    PES1 pescadillo ribosomal biogenesis factor 1 [ Homo sapiens (human) ]

    Gene ID: 23481, updated on 17-Jun-2024

    Summary

    Official Symbol
    PES1provided by HGNC
    Official Full Name
    pescadillo ribosomal biogenesis factor 1provided by HGNC
    Primary source
    HGNC:HGNC:8848
    See related
    Ensembl:ENSG00000100029 MIM:605819; AllianceGenome:HGNC:8848
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PES; NOP7
    Summary
    This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in testis (RPKM 9.0), ovary (RPKM 7.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PES1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30576625..30607013, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31040029..31070584, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30972612..31003000, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SEC14 like lipid binding 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30938591-30939583 Neighboring gene signal regulatory protein alpha pseudogene 1 Neighboring gene galactose-3-O-sulfotransferase 1 Neighboring gene MPRA-validated peak4480 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30967053-30967554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969210-30969891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969892-30970572 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30982632-30983831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30987725-30988440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31002947-31003526 Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene transcobalamin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31030490-31031194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13614 Neighboring gene solute carrier family 35 member E4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31042177-31042759 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene dual specificity phosphatase 18

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ43790

    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
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribonucleoprotein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of PeBoW complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of PeBoW complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of preribosome, large subunit precursor IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pescadillo homolog
    Names
    pescadillo homolog 1, containing BRCT domain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001243225.2NP_001230154.1  pescadillo homolog isoform 2

      See identical proteins and their annotated locations for NP_001230154.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AU098520, BQ576244, CR456539
      Consensus CDS
      CCDS58802.1
      UniProtKB/TrEMBL
      B5MCF9
      Related
      ENSP00000334612.6, ENST00000335214.8
      Conserved Domains (3) summary
      COG5163
      Location:6579
      NOP7; Protein required for biogenesis of the 60S ribosomal subunit [Translation, ribosomal structure and biogenesis]
      pfam06732
      Location:9278
      Pescadillo_N; Pescadillo N-terminus
      pfam16589
      Location:323409
      BRCT_2; BRCT domain, a BRCA1 C-terminus domain
    2. NM_001282327.1NP_001269256.1  pescadillo homolog isoform 3

      See identical proteins and their annotated locations for NP_001269256.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG, and the resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 2 and 4 encode the same protein (isoform 3).
      Source sequence(s)
      AK127185, BQ576244
      Consensus CDS
      CCDS74842.1
      UniProtKB/TrEMBL
      A1NV65, B3KTZ6, F6VXF5
      Related
      ENSP00000384366.1, ENST00000402281.5
      Conserved Domains (2) summary
      pfam06732
      Location:1139
      Pescadillo_N; Pescadillo N-terminus
      pfam16589
      Location:189275
      BRCT_2; BRCT domain, a BRCA1 C-terminus domain
    3. NM_001282328.1NP_001269257.1  pescadillo homolog isoform 3

      See identical proteins and their annotated locations for NP_001269257.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG, and the resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 2 and 4 encode the same protein (isoform 3).
      Source sequence(s)
      AC005006, AK096320, BQ576244
      Consensus CDS
      CCDS74842.1
      UniProtKB/TrEMBL
      A1NV65, B3KTZ6, F6VXF5
      Related
      ENSP00000385654.1, ENST00000405677.5
      Conserved Domains (2) summary
      pfam06732
      Location:1139
      Pescadillo_N; Pescadillo N-terminus
      pfam16589
      Location:189275
      BRCT_2; BRCT domain, a BRCA1 C-terminus domain
    4. NM_014303.4NP_055118.1  pescadillo homolog isoform 1

      See identical proteins and their annotated locations for NP_055118.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AU098520, BQ576244, U78310
      Consensus CDS
      CCDS13880.1
      UniProtKB/Swiss-Prot
      O00541, Q6IC29
      UniProtKB/TrEMBL
      A6NNS1, B2RDF2, B5MCF9
      Related
      ENSP00000346725.6, ENST00000354694.12
      Conserved Domains (3) summary
      smart00292
      Location:325402
      BRCT; breast cancer carboxy-terminal domain
      pfam06732
      Location:9278
      Pescadillo_N; Pescadillo N-terminus
      cl26511
      Location:438585
      Neuromodulin_N; Gap junction protein N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30576625..30607013 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31040029..31070584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)