PES1 - pescadillo ribosomal biogenesis factor 1 Gene

Also Known as PES; NOP7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23481

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 References
Intra
PES1 O00541 BOP1 Homo sapiens Q14137 28514442
Intra
PES1 O00541 BOP1 Homo sapiens Q14137 35271311
Intra
PES1 O00541 BOP1 Homo sapiens Q14137 33961781
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7 33961781
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7 28514442
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7 35271311
Intra
PES1 O00541 WDR12 Homo sapiens Q9GZL7 30021884
Intra
PES1 O00541 HTT Homo sapiens P42858 32814053
Intra
PES1 O00541 HTT Homo sapiens P42858 32814053
Intra
PES1 O00541 HTT Homo sapiens P42858 32814053
Intra
PES1 O00541 FOXM1 Homo sapiens Q08050 25609649
Intra
PES1 O00541 ATXN1 Homo sapiens P54253 32814053
Intra
PES1 O00541 ATXN1 Homo sapiens P54253 32814053
Intra
PES1 O00541 ATXN1 Homo sapiens P54253 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
Others PES1 NCBI