Specification
| Organism | Homo sapiens (Human) |
| Expression Host | E.coli |
| Tag Info | N-terminal GST-tagged |
| Purity | Greater than 85% by SDS-PAGE |
| Uniprot ID | O15259 |
| Gene Names | NPHP1 |
| Alternative Names | Juvenile nephronophthisis 1 protein |
| Expression Region | Partial(1-109aa ) |
| Molecular Weight | 39.7 kDa |
| Protein Sequence | MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENIT |
| Form | Liquid or Lyophilization |
| Buffer | The default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol if the delivery form is liquid. The lyophilization buffer is Tris/PBS-based buffer, 6% Trehalose, pH 8.0 if the delivery form is lyophilized powder. Please contact us if you have any special requirment. |
| Reconstitution | Please reconstitute protein in deionized sterile water and we recommend that briefly centrifuge thevial prior to opening the vial .We recommend aliquot for long-term storage at -20℃/-80℃. |
Background
| Relevance | 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 se to be strictly required for ciliogenesis . Ses 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 assbly. Required for normal retina development. In connecting photoreceptor cilia influences the movent of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis . |
| Involvement in Disease | Nephronophthisis 1 (NPHP1); Senior-Loken syndrome 1 (SLSN1); Joubert syndrome 4 (JBTS4) |
| Subcellular Location | Cell junction, adherens junction, Cell projection, cilium, Cytoplasm, cytoskeleton, cilium axoneme, Cell junction, tight junction |
| Protein Families | Nephrocystin-1 family |
| Tissue Specificity | NPHP1 |
QC Data
| Note | Please contact us for QC Data |
| Product Image (Reference Only) |  |