Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23481
Gene name	Pescadillo ribosomal biogenesis factor 1
Gene symbol	PES1
Synonyms (NCBI Gene)	NOP7PES
Chromosome	22
Chromosome location	22q12.2
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 p

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022851	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT028562	hsa-miR-30a-5p	Proteomics	18668040
MIRT051556	hsa-let-7e-5p	CLASH	23622248
MIRT1225282	hsa-miR-1285	CLIP-seq
MIRT1225283	hsa-miR-1293	CLIP-seq
MIRT1225284	hsa-miR-1343	CLIP-seq
MIRT1225285	hsa-miR-149	CLIP-seq
MIRT1225286	hsa-miR-2861	CLIP-seq
MIRT1225287	hsa-miR-3123	CLIP-seq
MIRT1225288	hsa-miR-3130-3p	CLIP-seq
MIRT1225289	hsa-miR-3155	CLIP-seq
MIRT1225290	hsa-miR-3155b	CLIP-seq
MIRT1225291	hsa-miR-3187-5p	CLIP-seq
MIRT1225292	hsa-miR-3192	CLIP-seq
MIRT1225293	hsa-miR-3919	CLIP-seq
MIRT1225294	hsa-miR-4300	CLIP-seq
MIRT1225295	hsa-miR-4468	CLIP-seq
MIRT1225296	hsa-miR-4483	CLIP-seq
MIRT1225297	hsa-miR-4505	CLIP-seq
MIRT1225298	hsa-miR-4757-5p	CLIP-seq
MIRT1225299	hsa-miR-4793-3p	CLIP-seq
MIRT1225300	hsa-miR-484	CLIP-seq
MIRT1225301	hsa-miR-541	CLIP-seq
MIRT1225302	hsa-miR-612	CLIP-seq
MIRT1225303	hsa-miR-654-5p	CLIP-seq
MIRT1225304	hsa-miR-668	CLIP-seq
MIRT1225305	hsa-miR-892b	CLIP-seq
MIRT1225306	hsa-miR-920	CLIP-seq
MIRT2065803	hsa-miR-105	CLIP-seq
MIRT2065804	hsa-miR-125a-5p	CLIP-seq
MIRT2065805	hsa-miR-125b	CLIP-seq
MIRT2065806	hsa-miR-196a	CLIP-seq
MIRT2065807	hsa-miR-196b	CLIP-seq
MIRT2065808	hsa-miR-3065-3p	CLIP-seq
MIRT2065809	hsa-miR-3162-3p	CLIP-seq
MIRT2065810	hsa-miR-3620	CLIP-seq
MIRT2065811	hsa-miR-3927	CLIP-seq
MIRT2065812	hsa-miR-4251	CLIP-seq
MIRT2065813	hsa-miR-4278	CLIP-seq
MIRT2065814	hsa-miR-4319	CLIP-seq
MIRT2065815	hsa-miR-4324	CLIP-seq
MIRT2065816	hsa-miR-4488	CLIP-seq
MIRT2065817	hsa-miR-4697-5p	CLIP-seq
MIRT2065818	hsa-miR-4716-3p	CLIP-seq
MIRT2065819	hsa-miR-486-3p	CLIP-seq
MIRT2065820	hsa-miR-580	CLIP-seq
MIRT2065809	hsa-miR-3162-3p	CLIP-seq
MIRT1225297	hsa-miR-4505	CLIP-seq
MIRT2065820	hsa-miR-580	CLIP-seq
MIRT2065804	hsa-miR-125a-5p	CLIP-seq
MIRT2065805	hsa-miR-125b	CLIP-seq
MIRT2065808	hsa-miR-3065-3p	CLIP-seq
MIRT2065810	hsa-miR-3620	CLIP-seq
MIRT2065812	hsa-miR-4251	CLIP-seq
MIRT2065814	hsa-miR-4319	CLIP-seq
MIRT2065815	hsa-miR-4324	CLIP-seq
MIRT2065820	hsa-miR-580	CLIP-seq
MIRT2065803	hsa-miR-105	CLIP-seq
MIRT2065804	hsa-miR-125a-5p	CLIP-seq
MIRT2065805	hsa-miR-125b	CLIP-seq
MIRT2687590	hsa-miR-147	CLIP-seq
MIRT2065808	hsa-miR-3065-3p	CLIP-seq
MIRT2065809	hsa-miR-3162-3p	CLIP-seq
MIRT2687591	hsa-miR-3190	CLIP-seq
MIRT2065810	hsa-miR-3620	CLIP-seq
MIRT2687592	hsa-miR-3689a-3p	CLIP-seq
MIRT2687593	hsa-miR-3689c	CLIP-seq
MIRT2687594	hsa-miR-3911	CLIP-seq
MIRT2687595	hsa-miR-3978	CLIP-seq
MIRT2065812	hsa-miR-4251	CLIP-seq
MIRT2065814	hsa-miR-4319	CLIP-seq
MIRT2065815	hsa-miR-4324	CLIP-seq
MIRT2687596	hsa-miR-4648	CLIP-seq
MIRT2687597	hsa-miR-4654	CLIP-seq
MIRT2687598	hsa-miR-4675	CLIP-seq
MIRT2687599	hsa-miR-4728-5p	CLIP-seq
MIRT2687600	hsa-miR-4729	CLIP-seq
MIRT2687601	hsa-miR-4741	CLIP-seq
MIRT2687602	hsa-miR-4769-5p	CLIP-seq
MIRT2687603	hsa-miR-495	CLIP-seq
MIRT2065820	hsa-miR-580	CLIP-seq
MIRT2687604	hsa-miR-644	CLIP-seq
MIRT2687605	hsa-miR-892a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	16738141, 17353269
GO:0000466	Process	Maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0000466	Process	Maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	16738141
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0005515	Function	Protein binding	IPI	16043514, 16738141, 17353269, 25609649, 25825154, 28514442, 30021884, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	16738141
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16738141
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	IMP	16738141
GO:0008283	Process	Cell population proliferation	IMP	16738141
GO:0016020	Component	Membrane	HDA	19946888
GO:0030687	Component	Preribosome, large subunit precursor	IDA	16738141, 17353269
GO:0030687	Component	Preribosome, large subunit precursor	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042273	Process	Ribosomal large subunit biogenesis	IC	16738141, 17353269
GO:0042273	Process	Ribosomal large subunit biogenesis	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	16738141
GO:0070545	Component	PeBoW complex	IBA
GO:0070545	Component	PeBoW complex	IDA	16043514, 16738141, 17353269
GO:0070545	Component	PeBoW complex	IEA

MIM	HGNC	e!Ensembl
605819	8848	ENSG00000100029

O00541

Protein name

Pescadillo homolog

Protein function

Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. {ECO:0000255|HAMAP-Rule:MF_03028, ECO:0000269|PubMed:16738141, ECO:0000269|PubMed:17189298, ECO:0000269|PubMed:173

PDB

2EP8 , 8FKP , 8FKQ , 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY , 8FKZ , 8FL2 , 8FL3 , 8FL4 , 8FL6 , 8FL7 , 8FLA , 8FLB , 8FLD , 8FLE , 8INE , 8INF , 8IPX , 8IPY , 8IR3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06732	Pescadillo_N	7 → 280	Pescadillo N-terminus	Family
PF16589	BRCT_2	323 → 414	BRCT domain, a BRCA1 C-terminus domain	Family

Tissue specificity

TISSUE SPECIFICITY: Significant levels are detected in a variety of cancer cell lines, including glioblastoma, breast carcinoma, colon carcinoma and cervical carcinoma cells. Levels are abnormally elevated in malignant tumors of astrocytic origin.

Sequence

MGGLEKKKYERGSATNYITRNKARKKLQLSLADFRRLCILKGIYPHEPKHKKKVNKGSTA
ARTFYLIKDIRFLLHEPIVNKFREYKVFVRKLRKAYGKSEWNTVERLKDNKPNYKLDHII
KERYPTFIDALRDLDDALSMCFLFSTFPRTGKCHVQTIQLCRRLTVEFMHYIIAARALRK
VFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQ
LLNLHYPPKLEGQAQAEAKAGEGTYALDSESCMEKLAALSASLARVVVPATEEEAEVDEF
PTDGEMSAQEEDRRKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGEVSWDKSL
CIGATYDVTDSRITHQIVDRPGQQTSVIGRCYVQPQWVFDSVNARLLLPVAEYFSGVQLP
PHLSPFVTEKEGDYVPPEKLKLLALQRGEDPGNLNESEEEEEEDDNNEGDGDEEGENEEE
EEDAEAGSEKEEEARLAALEEQRMEGKKPRVMAGTLKLEDKQRLAQEEESEAKRLAIMMM
KKREKYLYQKIMFGKRRKIREANKLAEKRKAHDEAVRSEKKAKKARPE

Sequence length

588

Interactions

View interactions

	Reactome
			Major pathway of rRNA processing in the nucleolus and cytosol

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHOLANGIOCARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	24376209	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	31127852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	24376209	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30705367	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	30705367	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Diseases	Associate	39438952	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	37076985	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30705367, 33221336, 34561421, 37076985	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	24376209	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Associate	39438952	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	37076985	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Stimulate	30705367	★★★★★ ★☆☆☆☆ Found in Text Mining only

PES1 (pescadillo ribosomal biogenesis factor 1)