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

Gene ID: 23481, updated on 9-Feb-2020

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
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

Genomic context

See PES1 in Genome Data Viewer
Location:
22q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (30576625..30607013, complement)
105 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 signal regulatory protein alpha pseudogene 1 Neighboring gene galactose-3-O-sulfotransferase 1 Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene transcobalamin 2 Neighboring gene solute carrier family 35 member E4 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

Homology

Clone Names

  • FLJ43790

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PeBoW complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PeBoW complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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/Swiss-Prot
    O00541
    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
    B3KXD6
    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
    B3KTZ6, B3KXD6
    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
    UniProtKB/TrEMBL
    B2RDF2
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006724173.2XP_006724236.1  pescadillo homolog isoform X1

    Conserved Domains (3) summary
    COG5163
    Location:6583
    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:328414
    BRCT_2; BRCT domain, a BRCA1 C-terminus domain
  2. XM_017028678.1XP_016884167.1  pescadillo homolog isoform X2

    UniProtKB/TrEMBL
    B3KXD6
    Conserved Domains (2) summary
    pfam06732
    Location:1139
    Pescadillo_N; Pescadillo N-terminus
    pfam16589
    Location:189275
    BRCT_2; BRCT domain, a BRCA1 C-terminus domain
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