Polymerase III, RNA, Subunit A

Alternative Names

  • POLR3A
  • RNA Polymerase III, Subunit C1
  • RPC1
  • RNA Polymerase III, 155-KD Subunit
  • RPC155
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OMIM Number

614258

NCBI Gene ID

11128

Uniprot ID

O14802

Length

60,290 bases

No. of Exons

31

No. of isoforms

1

Protein Name

DNA-directed RNA polymerase III subunit RPC1

Molecular Mass

155641 Da

Amino Acid Count

1390

Genomic Location

chr10:77,969,251-78,029,540

Gene Map Locus
10q22.3

Description

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007055.4:c.[1909+22G>A;3337-11T>C]PalestineNC_000010.11:g.[78009515C>T;77984023A>G]PathogenicPathogenicProgeroid Syndrome, NeonatalNG_029648.1:g.[25026G>A;50518T>C]; NM_007055.4:c.[1909+22G>A;3337-11T>C]191875469 1564613755805934
NM_007055.4:c.1800C>TPalestineNC_000010.11:g.78009646G>ALikely PathogenicPathogenicProgeroid Syndrome, NeonatalNG_029648.1:g.24895C>T; NM_007055.4:c.1800C>T; NP_008986.2:p.Ile600=1564620047549562
NM_007055.4:c.2003+18G>ALebanon; Syriachr10:78009519Likely Pathogenic, PathogenicPathogenicLeukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic HypogonadismNG_029648.1:g.25022G>A; NM_007055.4:c.2003+18G>A26760867731144
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