Property Summary

NCBI Gene PubMed Count 63
PubMed Score 50.80
PubTator Score 76.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
posterior fossa group B ependymoma 3.000 3.4e-14
glioblastoma 1.200 2.3e-05
atypical teratoid/rhabdoid tumor 1.500 2.6e-05
active Crohn's disease 1.146 2.8e-02
pediatric high grade glioma 1.200 3.2e-04

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.
21357692 Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia
21258817 NPHP1 deletion analysis should always be considered in patients with apparently dominant nephronophthisis.
21068128 Observational study of gene-disease association. (HuGE Navigator)
20981449 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20856870 PC-1 polyproline motif interacts with the SH3 domain of NPHP1.
20424473 Observational study of gene-disease association. (HuGE Navigator)
19718658 Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins SNX33 and nephrocystin
18633336 Jouberin interacts with nephrocystin-1 in HEK293 cells
18477472 These data define Ack1 as a novel interaction partner of nephrocystin-1 and implicate cell-cell junctions and the renal collecting duct in the pathology of nephronophthisis.
17855640 In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity.
17409309 Observational study of gene-disease association. (HuGE Navigator)
17409309 Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations.
16885411 Nephrocystin deficiency or dysfunction at the transition zone of renal monocilia and the photoreceptor connecting cilium might explain renal failure and retinal degeneration that are observed in patients with NPHP1.
16782989 NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
16762963 A premature stop codon, 1756C>T, at R586 in 4 patients was associated with an NPHP-1 deletion in 2 pts and with a 1122+2 duplication in one. The duplication had a low probablilty of maintaining the splicing effect on this obligatory donor splice site.
16308564 casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
15661758 part of multifunctional complex localized in actin- and microtubule-based structures
15138899 Observational study of gene-disease association. (HuGE Navigator)
15138899 NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

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
//

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.
22982934 2012 Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
22743096 2012 Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population.
22701722 2012 The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1.
22523277 2013 Nephronophthisis cannot be detected by urinary screening program.
21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
21565611 2011 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
21357692 2011 Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.
21258817 2011 Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20981449 2011 Genome-wide analysis of copy number variants in age-related macular degeneration.
20856870 2010 Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
19755384 2009 Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
19718658 2009 Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins.
18633336 2008 Jouberin localizes to collecting ducts and interacts with nephrocystin-1.
18512082 2008 Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.
18477472 2008 Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.
18054307 DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
17855640 2007 Evidence of oligogenic inheritance in nephronophthisis.
17513324 2007 Nephronophthisis-associated ciliopathies.
17409309 2007 High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16900087 2006 Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
16885411 2006 Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.
16782989 2006 Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
16762963 2006 Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.
16724659 2006 Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16374509 2006 Identification of preferred protein interactions by phage-display of the human Src homology-3 proteome.
16308564 2005 Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15723349 2005 Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.
15661758 2005 Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15138899 2004 The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
12006559 2002 Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.
11493697 2001 Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2.
10839884 2000 Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.
10739664 2000 Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells.
10712196 2000 Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
10665934 2000 Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans.
9856524 1998 Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.
9587065 1998 Familial juvenile nephronophthisis.
9361039 1997 A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.
9326933 1997 A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.
8852662 1996 Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7806215 1994 Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.