Full Product Name
Anti-NPHP1 Antibody
Product Gene Name
anti-NPHP1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for O15259
Species Reactivity
Human, Mouse, Rat
Purity/Purification
Affinity Purification
Concentration
1mg/ml (lot specific)
Immunogen
Recombinant protein of human NPHP1
Storage Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Preparation and Storage
Store at -20 degree C. Avoid freeze/thaw cycles.
Other Notes
Small volumes of anti-NPHP1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-NPHP1 antibody
This gene encodes a protein with src homology domain 3 (SH3) patterns.
Applications Tested/Suitable for anti-NPHP1 antibody
Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
Application Notes for anti-NPHP1 antibody
WB: 1:500-1:2000
IHC: 1:50-1:200
IF: 1:50-1:100
NCBI/Uniprot data below describe general gene information for NPHP1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001121651.1
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NCBI GenBank Nucleotide #
NM_001128179.1
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UniProt Primary Accession #
O15259
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UniProt Secondary Accession #
O14837[Other Products]
UniProt Related Accession #
O15259[Other Products]
Molecular Weight
83,428 Da
NCBI Official Full Name
nephrocystin-1 isoform 4
NCBI Official Synonym Full Names
nephrocystin 1
NCBI Official Symbol
NPHP1??[Similar Products]
NCBI Official Synonym Symbols
NPH1; JBTS4; SLSN1
??[Similar Products]
NCBI Protein Information
nephrocystin-1
UniProt Protein Name
Nephrocystin-1
UniProt Synonym Protein Names
Juvenile nephronophthisis 1 protein
Protein Family
Nephrocystin
UniProt Gene Name
NPHP1??[Similar Products]
UniProt Synonym Gene Names
NPH1??[Similar Products]
NCBI Summary for NPHP1
This gene encodes 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. [provided by RefSeq, Jul 2008]
UniProt Comments for NPHP1
Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (). Does not seem to be strictly required for ciliogenesis (). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis ().
Research Articles on NPHP1
1. Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons.
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