POLR1E

Chr 9

RNA polymerase I subunit E

Also known as: A49, PAF53, PRAF1, RPA49

NCBI Gene: 64425 ENSG00000137054 UniProt: Q9GZS1

POLR1E encodes a component of RNA polymerase I that synthesizes ribosomal RNA precursors and mediates the interaction between RNA polymerase I and the transcription factor UBTF at gene promoters. Mutations cause autosomal recessive developmental delay with facial dysmorphism and dental anomalies, typically presenting in early childhood. This gene is highly constrained against loss-of-function mutations, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity and RNA polymerase I general transcription initiation factor binding activity. Involved in nucleolar large rRNA transcription by RNA polymerase I; transcription elongation by RNA polymerase I; and transcription initiation at RNA polymerase I promoter. Located in fibrillar center and nucleoplasm. Part of RNA polymerase I complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.92

LOEUF

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Mechanism

Some data sources returned errors (1)