Property Summary

NCBI Gene PubMed Count 25
Grant Count 9
R01 Count 5
Funding $2,240,105.25
PubMed Score 17.56
PubTator Score 22.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.700 0.000
lung cancer 1.500 0.002
ovarian cancer 1.700 0.001

Gene RIF (14)

PMID Text
26045207 first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A or POLR3B should be investigated in patients with a compatible phenotype
26011300 Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination.
25635878 These results suggest that INMAP might function through p53/p21 pathways.
25339210 Most patients with 4H leukodystrophy carried the common c.1568T>A POLR3B mutation on one allele.
24633075 INMAP as a model regulator of CENP-B
23643445 MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations
23355746 Investigated POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A or POLR3B were uncovered in all 14 patients.
23124897 study reports INMAP is a truncated version of POLR3B, and is up-regulated in several human cancer cell lines; results suggest that INMAP may function through the p53 and AP-1 pathways, providing a possible link of its activity with tumourigenesis
22036172 Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
22036171 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
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AA Sequence

MDVLAEEFGNLTPEQLAAPIPTVEEKWRLLPAFLKVKGLVKQHIDSFNYFINVEIKKIMKANEKVTSDAD      1 - 70
PMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYTRGSQRIIRNALPIGRMPIML     71 - 140
RSSNCVLTGKTPAEFAKLNECPLDPGGYFIVKGVEKVILIQEQLSKNRIIVEADRKGAVGASVTSSTHEK    141 - 210
KSRTNMAVKQGRFYLRHNTLSEDIPIVIIFKAMGVESDQEIVQMIGTEEHVMAAFGPSLEECQKAQIFTQ    211 - 280
MQALKYIGNKVRRQRMWGGGPKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNK    281 - 350
VDDRDYYGNKRLELAGQLLSLLFEDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAIS    351 - 420
TGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGMLCPSDTPEGEAC    421 - 490
GLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVFLNGNILGVIRDHKKLVNTFR    491 - 560
LMRRAGYINEFVSISTNLTDRCVYISSDGGRLCRPYIIVKKQKPAVTNKHMEELAQGYRNFEDFLHESLV    561 - 630
EYLDVNEENDCNIALYEHTINKDTTHLEIEPFTLLGVCAGLIPYPHHNQSPRNTYQCAMGKQAMGTIGYN    631 - 700
QRNRIDTLMYLLAYPQKPMVKTKTIELIEFEKLPAGQNATVAVMSYSGYDIEDALVLNKASLDRGFGRCL    701 - 770
VYKNAKCTLKRYTNQTFDKVMGPMLDAATRKPIWRHEILDADGICSPGEKVENKQVLVNKSMPTVTQIPL    771 - 840
EGSNVPQQPQYKDVPITYKGATDSYIEKVMISSNAEDAFLIKMLLRQTRRPEIGDKFSSRHGQKGVCGLI    841 - 910
VPQEDMPFCDSGICPDIIMNPHGFPSRMTVGKLIELLAGKAGVLDGRFHYGTAFGGSKVKDVCEDLVRHG    911 - 980
YNYLGKDYVTSGITGEPLEAYIYFGPVYYQKLKHMVLDKMHARARGPRAVLTRQPTEGRSRDGGLRLGEM    981 - 1050
ERDCLIGYGASMLLLERLMISSDAFEVDVCGQCGLLGYSGWCHYCKSSCHVSSLRIPYACKLLFQELQSM   1051 - 1120
NIIPRLKLSKYNE                                                            1121 - 1133
//

Text Mined References (26)

PMID Year Title
26045207 2015 Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
26011300 2015 POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
25635878 2015 INMAP overexpression inhibits cell proliferation, induces genomic instability and functions through p53/p21 pathways.
25339210 2014 Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
24709693 2014 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
24633075 2014 A regulatory effect of INMAP on centromere proteins: antisense INMAP induces CENP-B variation and centromeric halo.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24107381 2014 Gene duplication and neofunctionalization: POLR3G and POLR3GL.
23643445 2014 Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
23355746 2013 Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
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