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NPHS1

Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM
Full Name
nephrosis 1, congenital, Finnish type (nephrin)
Function
Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).
Biological Process
Cell-cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Glomerular basement membrane developmentManual Assertion Based On ExperimentIEP:UniProtKB
Glomerular visceral epithelial cell developmentManual Assertion Based On ExperimentIEP:UniProtKB
JNK cascadeIEA:Ensembl
Myoblast fusionIEA:Ensembl
Positive regulation of actin filament polymerizationIEA:Ensembl
Protein localization to synapseManual Assertion Based On ExperimentIGI:UniProtKB
Skeletal muscle tissue developmentIEA:Ensembl
Slit diaphragm assemblyISS:UniProtKB
Cellular Location
Cell membrane
Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Involvement in disease
Nephrotic syndrome 1 (NPHS1):
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.
Topology
Extracellular: 23-1055
Helical: 1056-1076
Cytoplasmic: 1077-1241
PTM
Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.
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Anti-NPHS1 antibodies

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Rabbit Anti-NPHS1 Recombinant Antibody (9H482) (CBMAB-N3129-WJ)

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Target: NPHS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 9H482
Application*: WB
Datasheet SDS

Mouse Anti-NPHS1 Recombinant Antibody (3H6) (CBMAB-A6074-LY)

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Target: NPHS1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3H6
Application*: WB, E
Datasheet SDS

Mouse Anti-NPHS1 Recombinant Antibody (3D2) (CBMAB-A6073-LY)

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Target: NPHS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3D2
Application*: WB, E
Datasheet SDS

Rabbit Anti-NPHS1 Recombinant Antibody (Y17-R) (CBMAB-N3134-WJ)

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Target: NPHS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: Y17-R
Application*: E, IH, WB
Datasheet SDS

Rabbit Anti-NPHS1 Recombinant Antibody (G17-H) (CBMAB-N3133-WJ)

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Target: NPHS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: G17-H
Application*: E, WB, IP
Datasheet SDS

Rabbit Anti-NPHS1 Recombinant Antibody (CBWJN-0589) (CBMAB-N3130-WJ)

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Target: NPHS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBWJN-0589
Application*: IP, IHC-P, WB, IHC-Fr
Datasheet SDS

Mouse Anti-NPHS1 Recombinant Antibody (3G2E1D9) (CBMAB-N3127-WJ)

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Target: NPHS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 3G2E1D9
Application*: E, WB
Datasheet SDS

Mouse Anti-NPHS1 Recombinant Antibody (G1D4) (CBMAB-N0489-WJ)

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Target: NPHS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Cattle, Rat, Mouse, Guinea pig
Clone: G1D4
Application*: IH, IF, WB
Datasheet SDS

Mouse Anti-NPHS1 Recombinant Antibody (CBWJN-0277) (CBMAB-N0488-WJ)

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Target: NPHS1
Host: Mouse
Antibody Isotype: IgM, κ
Specificity: Human
Clone: CBWJN-0277
Application*: E, WB
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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