Metazoan complexes |
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Details of POLR1C gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| POLR1C | POLR1E | O15160 | RPAC1_HUMAN | 9533 | ENSG00000171453 | DNA-directed RNA polymerases I and III subunit RPAC1 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Treacher Collins syndrome 3 (TCS3) [MIM:248390]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. | 248390 |
Phenotypes
Abnormal axial skeleton morphology, Abnormal facial shape, Abnormality of head and neck, Abnormality of skeletal morphology, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the head, Abnormality of the midface, Abnormality of the ocular region, Abnormality of the outer ear, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the zygomatic arch, All, Cleft eyelid, Coloboma, Craniofacial dysostosis, Downslanted palpebral fissures, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Phenotypic abnormality, Slanting of the palpebral fissure.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Polr1c | CG3756 | rpac-40 | Sp-Polr1C |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
POLR1C | POLR1A | 1 | POLR1C | POLR1A | cpx171 | no | yes | yes | Known |
POLR1C | TWISTNB | 1 | POLR1C | TWISTNB | cpx171 | no | no | no | Novel |
POLR1C | POLR2L | 0.982275387 | POLR1C | POLR2L | cpx738 | no | yes | yes | Known |
POLR1D | POLR1C | 1 | POLR1D | POLR1C | cpx171 | no | yes | yes | Known |
POLR1B | POLR1C | 1 | POLR1B | POLR1C | cpx171 | no | yes | yes | Known |
POLR3B | POLR1C | 0.992401989 | POLR3B | POLR1C | cpx726 | no | yes | yes | Known |
POLR3A | POLR1C | 0.901551078 | POLR3A | POLR1C | cpx780 | no | yes | yes | Known |