|
Metazoan complexes |
Emili & Marcotte labs |
Please wait while page loads....
- Home
-
H.sapiens
-
M.musculus
-
D.melanogaster
-
C.elegans
-
S.purpuratus
-
Conserved map
-
PPI Projections
- Download
- Help
- Contact
Details of POLE gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| POLE | POLE1 | Q07864 | DPOE1_HUMAN | 5426 | ENSG00000177084 | DNA polymerase epsilon catalytic subunit A | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | 615083 | Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. Note=The disease is caused by mutations affecting the gene represented in this entry. | 615139 | ||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Pole | FBgn0020756 | F33H2.5 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| POLE3 | POLE | 1 | POLE3 | POLE | cpx79 | yes | yes | yes | Known |
| SMARCA1 | POLE | 0.052726301 | SMARCA1 | POLE | cpx79 | no | no | no | Novel |
| POLE4 | POLE | 1 | POLE4 | POLE | cpx79 | yes | no | no | Known |
| POLE | POLE2 | 1 | POLE | POLE2 | cpx79 | yes | yes | yes | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| POLE | PABPC4 | 0.115146248 | POLE | PABPC4 |
| PSMD11 | POLE | 0.081581799 | PSMD11 | POLE |
| POLE | PABPC1 | 0.102903224 | POLE | PABPC1 |
| PCNA | POLE | 0.076568095 | PCNA | POLE |
| POLE | MSH6 | 0.164644213 | POLE | MSH6 |
| PSMD4 | POLE | 0.101161941 | PSMD4 | POLE |
| PEX19 | POLE | 0.142725768 | PEX19 | POLE |
| EIF4G1 | POLE | 0.186908807 | EIF4G1 | POLE |
| SSB | POLE | 0.227323033 | SSB | POLE |
| POLA1 | POLE | 0.432217243 | POLA1 | POLE |
| SMC1A | POLE | 0.122976752 | SMC1A | POLE |