POLR1C
POLR1C is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11.
Full Name
polymerase (RNA) I polypeptide C, 30kDa
Function
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).
Biological Process
Transcription by RNA polymerase IManual Assertion Based On ExperimentTAS:ProtInc
Cellular Location
Nucleus
Involvement in disease
Treacher Collins syndrome 3 (TCS3):
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.
Leukodystrophy, hypomyelinating, 11 (HLD11):
An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.
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.
Leukodystrophy, hypomyelinating, 11 (HLD11):
An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.
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Anti-POLR1C antibodies
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CompareTarget: POLR1C
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2E11
Application*: WB, E
Target: POLR1C
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYC-P501
Application*: E, IF, IH, WB
Target: POLR1C
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: M1
Application*: E, P, WB
Target: POLR1C
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3A5-H2
Application*: IF, WB
Target: POLR1C
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2A5-A5
Application*: E, IF, WB
Target: POLR1C
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 5E173
Application*: E, IF, IH, WB
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(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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