Recombinant Human Nephrocystin-1 (NPHP1), partial

中文名稱：

人NPHP1重組蛋白
貨號：

CSB-EP015985HU
規格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

NPHP1
Uniprot No.：

O15259
別名：

JBTS4; Juvenile nephronophthisis 1 protein; Nephrocystin 1; Nephrocystin-1; nephronophthisis 1 (juvenile); Nephronophthisis; NPH1; NPHP1; NPHP1_HUMAN; SLSN1
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

39.7kDa
表達區域：

1-109aa
氨基酸序列

MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENIT
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal GST-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
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. PMID: 26037636
2. 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
3. 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
4. associated with male factor infertility PMID: 26198798
5. We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort. PMID: 25401970
6. 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
7. 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
8. NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease. PMID: 22523277
9. 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
10. 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
11. Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders. PMID: 22982934
12. Plk1 colocalizes with nephrocystin-1 and induces it's phosphorylation in the transition zone of primary cilia in epithelial cells. PMID: 22701722
13. NPHP1 deletion analysis should always be considered in patients with apparently dominant nephronophthisis. PMID: 21258817
14. Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia PMID: 21357692
15. PC-1 polyproline motif interacts with the SH3 domain of NPHP1. PMID: 20856870
16. Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins SNX33 and nephrocystin PMID: 19718658
17. NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome PMID: 15138899
18. part of multifunctional complex localized in actin- and microtubule-based structures PMID: 15661758
19. casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia PMID: 16308564
20. 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
21. 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
22. 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
23. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
24. 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
25. Jouberin interacts with nephrocystin-1 in HEK293 cells PMID: 18633336
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相關疾病：

Nephronophthisis 1 (NPHP1); Senior-Loken syndrome 1 (SLSN1); Joubert syndrome 4 (JBTS4)
亞細胞定位：

Cell junction. Cell junction, adherens junction. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction.
蛋白家族：

Nephrocystin-1 family
組織特異性：

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
數據庫鏈接：

HGNC: 7905

OMIM: 256100

KEGG: hsa:4867

STRING: 9606.ENSP00000313169

UniGene: Hs.280388