Property Summary

NCBI Gene PubMed Count 32
Grant Count 26
R01 Count 12
Funding $2,385,636.28
PubMed Score 37.61
PubTator Score 26.40

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.300 0.000
sonic hedgehog group medulloblastoma 1.200 0.000

Gene RIF (12)

PMID Text
25851290 High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families in Iranian children with nephronophthisis.
25552655 NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24674142 mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function
23446637 NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation.
22183348 Genetic variation may affect severity of disease for X-linked retinitis pigmentosa.
21901789 in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
21857984 Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations.
21245082 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
21220633 Mutations in NPHP5 can cause Leber congenital amaurosis (LCA)without early-onset renal disease.
21068128 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDY      1 - 70
SRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLH     71 - 140
FFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSI    141 - 210
LDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGL    211 - 280
LSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKL    281 - 350
QLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAA    351 - 420
VTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERL    421 - 490
QHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHI    491 - 560
QAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP                                    561 - 598
//

Text Mined References (31)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
25851290 2015 Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24674142 2013 Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
23446637 2013 Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
23382074 2013 A high-confidence interaction map identifies SIRT1 as a mediator of acetylation of USP22 and the SAGA coactivator complex.
22183348 2012 Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
21901789 2011 Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
21857984 2011 Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
21602787 2011 Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos.
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