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

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: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (30576625..30607013, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (31040029..31070584, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (30972612..31003000, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PES1 is a biomarker of head and neck squamous cell carcinoma and is associated with the tumor microenvironment.
Title: PES1 is a biomarker of head and neck squamous cell carcinoma and is associated with the tumor microenvironment.
Overexpression of hepatic pescadillo 1 in obesity induces lipid dysregulation by inhibiting autophagy.
Title: Overexpression of hepatic pescadillo 1 in obesity induces lipid dysregulation by inhibiting autophagy.
Pescadillo ribosomal biogenesis factor 1 reduction suppresses tumour growth and renders chemosensitivity of head and neck squamous cell carcinoma.
Title: Pescadillo ribosomal biogenesis factor 1 reduction suppresses tumour growth and renders chemosensitivity of head and neck squamous cell carcinoma.
microRNA-1271 impedes the development of prostate cancer by downregulating PES1 and upregulating ERbeta.
Title: microRNA-1271 impedes the development of prostate cancer by downregulating PES1 and upregulating ERβ.
PES1 promotes the occurrence and development of papillary thyroid cancer by upregulating the ERalpha/ERbeta protein ratio.
Title: PES1 promotes the occurrence and development of papillary thyroid cancer by upregulating the ERα/ERβ protein ratio.
CD44 regulates PES1 in liver cancer stem cells via miR-105-5p to promote cell growth
Title: PES1 is regulated by CD44 in liver cancer stem cells via miR-105-5p.
PES1 facilitates telomerase assembly by promoting direct interaction between TERT and TR without affecting TERT and TR levels
Title: PES1 is a critical component of telomerase assembly and regulates cellular senescence.
Authors showed that PES1 interacted with BRD4 to enhance c-Myc expression, which is the primary cause of cancer cell resistance to BET inhibitors in pancreatic cancer.
Title: PES1 promotes BET inhibitors resistance and cells proliferation through increasing c-Myc expression in pancreatic cancer.
PES1 is transcriptionally regulated by BRD4 and promotes cell proliferation and glycolysis in hepatocellular carcinoma
Title: PES1 is transcriptionally regulated by BRD4 and promotes cell proliferation and glycolysis in hepatocellular carcinoma.
upregulated in hepatocellular carcinoma tissues and cells, potentially representing a novel prognostic marker for overall survival
Title: PES1 enhances proliferation and tumorigenesis in hepatocellular carcinoma via the PI3K/AKT pathway.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal large subunit biogenesis	IC Inferred by Curator more info	PubMed

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 more info	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

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Preferred Names: pescadillo homolog

Names: pescadillo homolog 1, containing BRCT domain

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)

NM_001243225.2 → NP_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:6 → 579

NOP7; Protein required for biogenesis of the 60S ribosomal subunit [Translation, ribosomal structure and biogenesis]

pfam06732
Location:9 → 278

Pescadillo_N; Pescadillo N-terminus

pfam16589
Location:323 → 409

BRCT_2; BRCT domain, a BRCA1 C-terminus domain
NM_001282327.1 → NP_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:1 → 139

Pescadillo_N; Pescadillo N-terminus

pfam16589
Location:189 → 275

BRCT_2; BRCT domain, a BRCA1 C-terminus domain
NM_001282328.1 → NP_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:1 → 139

Pescadillo_N; Pescadillo N-terminus

pfam16589
Location:189 → 275

BRCT_2; BRCT domain, a BRCA1 C-terminus domain
NM_014303.4 → NP_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:325 → 402

BRCT; breast cancer carboxy-terminal domain

pfam06732
Location:9 → 278

Pescadillo_N; Pescadillo N-terminus

cl26511
Location:438 → 585

Neuromodulin_N; Gap junction protein N-terminal region