NPHS1 (NPHS1 adhesion molecule, nephrin)

2016-10-01  

Identity

HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
CNF,NPHN,nephrin

Other Information

Locus ID:

NCBI: 4868
MIM: 602716
HGNC: 7908
Ensembl: ENSG00000161270

Variants:

dbSNP: 4868
ClinVar: 4868
TCGA: ENSG00000161270
COSMIC: NPHS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161270ENST00000353632O60500
ENSG00000161270ENST00000378910O60500

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA450268losartanChemicalClinicalAnnotation, VariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
165254192006Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.172
165439522006Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization.136
173719322007Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).119
126634752003Nephrin expression is reduced in human diabetic nephropathy: evidence for a distinct role for glycated albumin and angiotensin II.99
253213922014Phase transitions of multivalent proteins can promote clustering of membrane receptors.95
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179236842007Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization.71
155459982004Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.68
173957512007Nephrin is critical for the action of insulin on human glomerular podocytes.55
169687822006beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity.50

Citation

Dessen P

NPHS1 (NPHS1 adhesion molecule, nephrin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56455/nphs1