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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 (Pescadillo Ribosomal Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with PES1 include Median Arcuate Ligament Syndrome and Thoracic Outlet Syndrome. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonucleoprotein complex binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16043514 |
GO:0043021 | ribonucleoprotein complex binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IDA | -- |
GO:0005730 | nucleolus | IEA,IDA | 16738141 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | rRNA processing in the nucleus and cytosol |
.89
|
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000463 | maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | IBA,IMP | 16738141 |
GO:0000466 | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | IMP | 16738141 |
GO:0006364 | rRNA processing | TAS | -- |
GO:0008283 | cell proliferation | IMP | 16738141 |
GO:0042254 | ribosome biogenesis | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | |||||||||
SP12: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PES1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PES1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PES1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PES1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pes1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pes1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PES1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PES1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PES1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pes1 30 |
|
||
MGC76219 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | pes1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pes 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4417 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4364 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | PESC_ANOGA 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | lpd-7 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR094W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NOP7 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D15268g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G14520 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0699200 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00925 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ppp1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12349 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs80018848 | Benign: not provided | 30,577,088(-) |
C/T NM_014303.4(PES1):c.1725G>A (p.Ala575=) |
SYNONYMOUS | |
rs11541876 | - |
p.Asp370His |
|||
rs34123894 | - |
p.Ala411Thr |
|||
rs42942 | - |
p.Thr264Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1116333 | CNV | insertion | 17803354 |
nsv1110864 | OTHER | inversion | 24896259 |
nsv588887 | CNV | loss | 21841781 |
nsv829171 | CNV | loss | 20364138 |
nsv834175 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
median arcuate ligament syndrome |
|
|
thoracic outlet syndrome |
|
|
robinow syndrome, autosomal dominant 1 |
|
|