Property Summary

NCBI Gene PubMed Count 63
Grant Count 59
R01 Count 46
Funding $3,741,986.21
PubMed Score 50.80
PubTator Score 76.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Gene RIF (29)

PMID Text
26641089 dynamic genomic rearrangements occurred historically within the NPHP1 locus and generated SV haplotypes observed in the human population today, which may confer differential susceptibility to genomic instability and the NPHP1 deletion
26198798 associated with male factor infertility
25851290 A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families in Iranian children with nephronophthisis.
25401970 We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort.
24746959 These results suggest that NPHP1 mutations are probably rare primary causes of Bardet-Biedl syndrome that contribute to the mutational burden of the disorder.
23683649 Congenital ocular motor apraxia and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1.
22982934 Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders.
22743096 Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian patients with clinical pictures of tubulo-interstitiel kidney disorder and chronic renal failure.
22701722 Plk1 colocalizes with nephrocystin-1 and induces it's phosphorylation in the transition zone of primary cilia in epithelial cells.
22523277 NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease.
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AA Sequence

MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKAD      1 - 70
ESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEE     71 - 140
EEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY    141 - 210
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRM    211 - 280
ETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYF    281 - 350
LQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSN    351 - 420
IHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGW    421 - 490
VFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRS    491 - 560
RNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSW    561 - 630
AGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGA    631 - 700
LQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV                                          701 - 732
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Text Mined References (63)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26641089 2015 Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26198798 2015 Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.
25851290 2015 Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
25401970 2015 Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding.
24746959 2014 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
23683649 2013 Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
23532844 2013 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
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