RecName: Full=DNA-directed RNA polymerase I subunit RPA1; Short=RNA po - Protein

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A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis. [Brain. 2023]
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, et al. Brain. 2023 Aug 1; 146(8):3513-3527.
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. [Clin Genet. 2021]
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
da Rocha LA, Pires LVL, Yamamoto GL, Magliocco Ceroni JR, Honjo RS, de Novaes França Bisneto E, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, et al. Clin Genet. 2021 Nov; 100(5):615-623. Epub 2021 Aug 9.
Upregulated long non-coding RNA LOC90784 promotes cell proliferation and invasion and is associated with poor clinical features in HCC. [Biochem Biophys Res Commun. 2017]
Upregulated long non-coding RNA LOC90784 promotes cell proliferation and invasion and is associated with poor clinical features in HCC.
Xu JH, Chang WH, Fu HW, Shu WQ, Yuan T, Chen P. Biochem Biophys Res Commun. 2017 Aug 26; 490(3):920-926. Epub 2017 Jun 24.

RefSeq genomic sequence
See the genomic reference sequence for the POLR1A gene (NG_050742.2).
RefSeq protein
See the reference protein sequence for DNA-directed RNA polymerase I subunit RPA1 (NP_056240.2).

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O95602 [Domain Mapping of Disease Mut...]
O95602
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=DNA-directed RNA polymerase I subunit RPA1; Short=RNA polymerase I...
RecName: Full=DNA-directed RNA polymerase I subunit RPA1; Short=RNA polymerase I subunit A1; AltName: Full=A190; AltName: Full=DNA-directed RNA polymerase I largest subunit; AltName: Full=DNA-directed RNA polymerase I subunit A; AltName: Full=RNA polymerase I 194 kDa subunit; Short=RPA194
gi|215273873|sp|O95602.2|RPA1_HUMAN

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