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NPHS1
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Diseases associated with NPHS1 include Nephrotic Syndrome, Type 1 and Congenital Nephrotic Syndrome Finnish Type. Among its related pathways are Nephrin interactions and Nephrin/Neph1 signaling in the kidney podocyte.
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Early spermatids, Glandular and luminal cells, Late spermatids, Fibroblasts, Bipolar cells, Endometrial ciliated cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (HMC-1, JURKAT)
Interaction
Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL1/NEPH1 and KIRREL2; the interaction with KIRREL1 is dependent on KIRREL1 glycosylation. Interacts with KIRREL3. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2 (PubMed:11562357).
Molecular function
Developmental protein
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Human, mouse, rat
- Type: IgG
- Application: WB, ELISA, IP, IHC-P
- Mouse Anti-NPHS1 Antibody (MOB-165CQ)
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- Species Reactivity: Human
- Type: Mouse IgG1, κ
- Application: ELISA, WB
- Recombinant Anti-Human NPHS1 Antibody Fab Fragment (MOB-1833z-F(E))
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Fab
- Application: IF, Neut, FuncS
- Recombinant Anti-Human NPHS1 Antibody scFv Fragment (MOB-1833z-S(P))
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- Derivation: Mouse
- Species Reactivity: Human
- Type: scFv
- Application: WB, Neut, FuncS
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: ELISA, WB, IP
-
- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: ELISA, WB, IP
-
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: FC
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For Research Use Only. Not For Clinical Use.