Recombinant Human Nephrocystin-1 (NPHP1) Protein (GST)

Name: Recombinant Human Nephrocystin-1 (NPHP1) Protein (GST)
Brand: Beta LifeScience
SKU: BLC-10072P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Nephrocystin-1 (NPHP1) Protein (GST) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	O15259
Target Symbol	NPHP1
Synonyms	JBTS4; Juvenile nephronophthisis 1 protein; Nephrocystin 1; Nephrocystin-1; nephronophthisis 1 (juvenile); Nephronophthisis; NPH1; NPHP1; NPHP1_HUMAN; SLSN1
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-GST
Target Protein Sequence	MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENIT
Expression Range	1-109aa
Protein Length	Partial
Mol. Weight	39.7kDa
Research Area	Metabolism
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	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.
Subcellular Location	Cell junction. Cell junction, adherens junction. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction.
Protein Families	Nephrocystin-1 family
Database References	HGNC: 7905 OMIM: 256100 KEGG: hsa:4867 STRING: 9606.ENSP00000313169 UniGene: Hs.280388
Associated Diseases	Nephronophthisis 1 (NPHP1); Senior-Loken syndrome 1 (SLSN1); Joubert syndrome 4 (JBTS4)
Tissue Specificity	Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level). Expressed i

Gene Functions References

Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. PMID: 26037636
Ocular motor apraxia (OMA) may present with extraocular manifestations (nephronophthisis and cerebellar vermis hypoplasia) and that OMA can be associated with NPHP1 mutations. PMID: 27316287
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 PMID: 26641089
associated with male factor infertility PMID: 26198798
We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort. PMID: 25401970
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. PMID: 25851290
These results suggest that NPHP1 mutations are probably rare primary causes of Bardet-Biedl syndrome that contribute to the mutational burden of the disorder. PMID: 24746959
NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease. PMID: 22523277
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. PMID: 23683649
Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian patients with clinical pictures of tubulo-interstitiel kidney disorder and chronic renal failure. PMID: 22743096
Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders. PMID: 22982934
Plk1 colocalizes with nephrocystin-1 and induces it's phosphorylation in the transition zone of primary cilia in epithelial cells. PMID: 22701722
NPHP1 deletion analysis should always be considered in patients with apparently dominant nephronophthisis. PMID: 21258817
Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia PMID: 21357692
PC-1 polyproline motif interacts with the SH3 domain of NPHP1. PMID: 20856870
Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins SNX33 and nephrocystin PMID: 19718658
NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome PMID: 15138899
part of multifunctional complex localized in actin- and microtubule-based structures PMID: 15661758
casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia PMID: 16308564
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. PMID: 16762963
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. PMID: 16885411
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. PMID: 17409309
In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
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. PMID: 18477472
Jouberin interacts with nephrocystin-1 in HEK293 cells PMID: 18633336

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.