1. Gene
  2. PES1 - pescadillo ribosomal biogenesis factor 1 Gene

PES1 - pescadillo ribosomal biogenesis factor 1 Gene

Homo sapiens

Also known as PES; NOP7

Gene ID: 23481 | Gene type: protein coding

About PES1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:30,576,625-30,607,013 (from NCBI)

This gene has 13 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in testis (RPKM 9.0), ovary (RPKM 7.8) and 25 other tissues.

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]

PES1 Products(4)

mRNA Protein Name
NM_001243225.2 NP_001230154.1 pescadillo homolog isoform 2
NM_001282327.1 NP_001269256.1 pescadillo homolog isoform 3
NM_001282328.1 NP_001269257.1 pescadillo homolog isoform 3
NM_014303.4 NP_055118.1 pescadillo homolog isoform 1

PES1 Protein Structure

Pescadillo_N

Pescadillo_N: Pescadillo N-terminus (6 - 277)

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (323 - 402)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 588 a.a.
Protein Preferred Names Protein Names

pescadillo homolog

pescadillo homolog 1, containing BRCT domain

PES1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PES1 O00541 BOP1 Homo sapiens Q14137
Anti Tag CoIP
28514442
Intra
PES1 O00541 BOP1 Homo sapiens Q14137
Anti Tag CoIP
35271311
Intra
PES1 O00541 BOP1 Homo sapiens Q14137
Anti Tag CoIP
33961781
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7
Anti Tag CoIP
33961781
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7
Anti Tag CoIP
28514442
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7
Anti Tag CoIP
35271311
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7
Crosslink
30021884
Intra
PES1 O00541 HTT Homo sapiens P42858
Validated Y2H
32814053
Intra
PES1 O00541 HTT Homo sapiens P42858
Y2H Pooling
32814053
Intra
PES1 O00541 HTT Homo sapiens P42858
Y2H Array
32814053
Intra
PES1 O00541 FOXM1 Homo sapiens Q08050
Pull Down
25609649
Intra
PES1 O00541 ATXN1 Homo sapiens P54253
Validated Y2H
32814053
Intra
PES1 O00541 ATXN1 Homo sapiens P54253
Y2H Pooling
32814053
Intra
PES1 O00541 ATXN1 Homo sapiens P54253
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PES1 VGNC VGNC:68788
Canis familiaris PES1 VGNC VGNC:44425
Macaca mulatta PES1 VGNC VGNC:75944
Bos taurus PES1 VGNC VGNC:32750
Mus musculus PES1 MGD MGI:1890613
Rattus norvegicus PES1 RGD RGD:1559814