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NPHP1 / Nephronophthisis

nephronophthisis 1 (juvenile)

NPHP1 / Nephronophthisis is a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene Name: nephronophthisis 1 (juvenile)
Synonyms: NPHP1, JBTS4, Nephrocystin 1, Nephronophthisis, SLSN1, Nephrocystin-1, Nephronophthisis 1 (juvenile), NPH1
Target Sequences: NM_000272 NP_000263.2 O15259

Publications (1)

1
Novel roles of PRK1 and PRK2 in cilia and cancer biology. Hitesh Patel, Jun Li, Ana Herrero, Jakob Kroboth, Adam Byron, Alex Von Kriegsheim, Valerie Brunton, Neil Carragher, Toby Hurd, Margaret Frame. Scientific reports. 2020 Mar;10:3902. [Full Text Article] [PubMed:32127582] [PMC:PMC7054267] Related Antibodies: LS-C317167.

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Proteins (7)
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NPHP1 / Nephronophthisis (7)
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NPHP1 / Nephronophthisis Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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HEK 293 Cells
Myc-DDK (Flag)
83.2 kDa
100 µg/$710
NPHP1 / Nephronophthisis Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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HEK 293 Cells
Myc-DDK (Flag)
69.7 kDa
100 µg/$494
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E. coli
GST
40.3 kD
1 mg/$1,355; 100 µg/$420; 20 µg/$323
NPHP1 / Nephronophthisis Protein - 12.5% SDS-PAGE of human NPHP1 stained with Coomassie Blue
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Wheat Germ Extract
GST
40.7 kDa
10 µg/$479; 25 µg/$670
NPHP1 / Nephronophthisis Protein - 12.5% SDS-PAGE Stained with Coomassie Blue.
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Wheat Germ Extract
GST, N-terminus
10 µg/$479; 25 µg/$670
NPHP1 / Nephronophthisis Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
Select
293T Cells
Myc-DDK (Flag)
83.2 kDa
20 µg/$215
NPHP1 / Nephronophthisis Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
Select
293T Cells
Myc-DDK (Flag)
69.7 kDa
20 µg/$150
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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).