Property Summary

NCBI Gene PubMed Count 18
Grant Count 17
R01 Count 9
Funding $1,383,931.34
PubMed Score 111.96
PubTator Score 13.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.300 0.001
osteosarcoma -2.308 0.000
tuberculosis 1.200 0.000
lung cancer 1.600 0.007

Gene RIF (5)

PMID Text
26505888 NPRL3 mutations are significant cause of focal epilepsy.
26285051 Mutations in NPRL3 are a novel cause of familial cortical dysplasia.
22538705 NPRL3 is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system.
21555518 NPRL3 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
19666006 C16orf35 can modulate differentially the specific activities of selected p73 isoforms.

AA Sequence

MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILA      1 - 70
TILATKSEMCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVIN     71 - 140
CLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDS    141 - 210
LCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSP    211 - 280
ALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAE    281 - 350
QFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEE    351 - 420
PRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASL    421 - 490
SEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPV    491 - 560
IAVFQALLP                                                                 561 - 569
//

Text Mined References (19)

PMID Year Title
26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
26285051 2016 Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23723238 2013 A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.
23446634 2013 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
23406172 2013 Genetic determinants of haemolysis in sickle cell anaemia.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
22538705 2012 Nprl3 is required for normal development of the cardiovascular system.
21555518 2011 The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
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