POLR1A gene

RNA polymerase I subunit A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

From UniProt:

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).

From NCBI Gene:

  • Acrofacial dysostosis, Cincinnati type

From UniProt:

Acrofacial dysostosis, Cincinnati type (AFDCIN): A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and, in some patients, the limbs. [MIM:616462]

Cytogenetic Location: 2p11.2, which is the short (p) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 86,020,216 to 86,105,886 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2p11.2, which is the short (p) arm of chromosome 2 at position 11.2
  • A190
  • RPA1
  • RPA194
  • RPO1-4
  • RPO14