POLR1C

Last update 08 May 2025

Basic Info

Synonyms

AC40, DNA-directed RNA polymerase I subunit C, DNA-directed RNA polymerases I and III 40 kDa polypeptide

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Introduction

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 short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft.

100 Clinical Results associated with POLR1C

100 Translational Medicine associated with POLR1C

0 Patents (Medical) associated with POLR1C

131

Literatures (Medical) associated with POLR1C

01 Jun 2025·Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

POLR1D, a shared subunit of RNA polymerase I and III, modulates mTORC1 activity

Article

Author: Gorjão, Neuton ; Szczesny, Roman J ; Borowski, Lukasz S ; Graczyk, Damian

The mechanistic target of rapamycin complex 1 (mTORC1) is a crucial nutrient sensor and a major regulator of cell growth and proliferation. While mTORC1 activity is frequently upregulated in cancer, the mechanisms regulating mTORC1 are not fully understood. POLR1D, a shared subunit of RNA polymerases I and III, is often upregulated in colorectal cancer (CRC) and mutated in Treacher-Collins syndrome. POLR1D, together with its binding partner POLR1C, forms a dimer that is believed to initiate the assembly of the multisubunit RNA polymerases I and III. Our data reveal an unexpected link between POLR1D and mTORC1 signalling. We found that the overproduction of POLR1D in human cells stimulates mTORC1 activity. In contrast, the downregulation of POLR1D leads to the repression of the mTORC1 pathway. Additionally, we demonstrate that a pool of POLR1D localises to the cytoplasm and interacts with the mTORC1 regulator RAGA and RAPTOR. Furthermore, POLR1D enhances the interaction between RAPTOR and RAGA and sustains mTORC1 activity under starvation conditions. We have identified a novel role for the RNA polymerase I/III subunit POLR1D in regulating mTORC1 signalling. Our findings suggest the existence of a new node in the already complex mTORC1 signalling network, where POLR1D functions to convey the cell's internal status, namely polymerase assembly, to this kinase.

01 Mar 2025·American Journal of Medical Genetics Part A

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

Article

Author: Kaur, Namanpreet ; Hunakunti, Bhagesh ; Girisha, Katta Mohan ; Mascarenhas, Selinda ; Naik, Rohit ; Bhat, Vivekananda ; Nayak, Shalini S. ; Nair, Karthik Vijay ; Kulkarni, Rajesh ; Nampoothiri, Sheela ; Sharma, Suvasini ; Ramesh Bhat, Y. ; Siddiqui, Shahyan ; Majethia, Purvi ; do Rosario, Michelle C. ; Narayanan, Dhanya Lakshmi ; Prasannakumar, Adarsh Pooradan ; Yatheesha, B. L. ; Rao, Lakshmi Priya ; Patil, Siddaramappa J. ; Shukla, Anju ; Bielas, Stephanie

ABSTRACTSeveral genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed. Molecular diagnosis was achieved in 22 out of 24 families (92%). Four families (4/9, 44%) were diagnosed with targeted testing and 18 families (18/23, 78%) were diagnosed using broad genomic testing. Overall, 14 monogenic disorders were identified. Twenty disease‐causing variants were identified in 14 genes including PLP1, GJC2, POLR1C, TUBB4A, UFM1, NKX6‐2, DEGS1, RNASEH2C, HEXA, ATP7A, SETBP1, GRIN2B, OCLN, and ZBTB18. Among these, nine (45%) variants are novel. Fourteen families (82%, 14/17) were diagnosed using proband‐only exome sequencing (ES) complemented with deep phenotyping, thus highlighting the utility of singleton ES as a valuable diagnostic tool for identifying these disorders in resource‐limited settings.

01 Mar 2025·Neurology India

POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario

Article

Author: Kumar, Atin ; Jauhari, Prashant ; Chakrabarty, Biswaroop ; Gulati, Sheffali ; Mahesan, Aakash ; Kamila, Gautam ; Meena, Ankit Kumar ; Wander, Arvinder

POLR3-related leukodystrophy is a spectrum of hypomyelinating leukodystrophy caused by biallelic POLR3A, POLR3B, POLR1C, and POLR3K variants. This series of case reports aims to provide a concise overview of the spectrum of rare hypomyelinating leukodystrophy caused by POLR3 variants and adds to the existing knowledge regarding clinical details of a rarer subset caused by POLR1C variant. A retrospective review of four cases in the POLR3-related leukodystrophy spectrum was done. Data pertaining to the clinical details, radiological features, and genetic results of the patients were retrieved and analyzed. Hypomyelination, hypodontia, and hypogonadotrophic hypogonadism are the core features of this spectrum of disorders, and our children from North India also had similar presentation. Sensorineural hearing loss is a newly reported feature, seen in our patients. Further research and larger studies are needed on the pathogenetic cellular mechanisms in this form of hypomyelinating leukodystrophy to guide development of therapeutic targets.

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