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nephrin; renal glomerulus-specific cell adhesion receptor (NPHS1 NPHN)
Function:
- seems to play a role in the development or function of the kidney glomerular filtration barrier
- may anchor the podocyte slit diaphragm to the actin cytoskeleton
- phosphorylated on Tyr
- interacts with podocin/NPHS2 & KIRREL
- interacts with CD2AP C-terminal domain (putative)
- interacts with MAGI1 PDZ domains 2 & 3 forming a tripartite complex with IGSF5/JAM4
- interacts with DDN; the interaction is direct
Structure:
- belongs to the immunoglobulin superfamily
- contains 1 fibronectin F3 module
- contains 8 Ig-like C2-type domain (immunoglobulin-like)
Compartment:
- cell membrane; single-pass type 1 membrane protein (putative)
- predominantly located at podocyte slit diaphragm between podocyte foot processes
- also associated with podocyte apical plasma membrane
Alternative splicing:
- named isoforms=2
Expression:
- specifically expressed in podocytes of kidney glomeruli
- in 23-week-old embryo found in epithelial podocytes of the periphery of mature & developing glomeruli
Pathology:
- defects in NPHS1 are the cause of nephrotic syndrome type-1
Related
NPHS1 gene mutation
General
adhesion receptor
glycoprotein
immunoglobulin superfamily protein
phosphoprotein
Properties
SIZE: entity length = 1241 aa
MW = 135 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-22}
immunoglobulin superfamily domain {27-130}
MOTIF: N-glycosylation site {N40}
cysteine residue {C53}
MODIFICATION: cysteine residue {C111}
cysteine residue {C111}
MODIFICATION: cysteine residue {C53}
immunoglobulin superfamily domain {143-234}
MOTIF: cysteine residue {C160}
MODIFICATION: cysteine residue {C217}
cysteine residue {C217}
MODIFICATION: cysteine residue {C160}
immunoglobulin superfamily domain {242-333}
MOTIF: cysteine residue {C265}
MODIFICATION: cysteine residue {C317}
cysteine residue {C317}
MODIFICATION: cysteine residue {C265}
immunoglobulin superfamily domain {340-434}
MOTIF: N-glycosylation site {N356}
cysteine residue {C361}
MODIFICATION: cysteine residue {C417}
N-glycosylation site {N401}
cysteine residue {C417}
MODIFICATION: cysteine residue {C361}
Ser phosphorylation site {S432}
immunoglobulin superfamily domain {440-540}
MOTIF: cysteine residue {C465}
MODIFICATION: cysteine residue {C528}
cysteine residue {C528}
MODIFICATION: cysteine residue {C465}
immunoglobulin superfamily domain {544-635}
MOTIF: N-glycosylation site {N547}
N-glycosylation site {N553}
N-glycosylation site {N564}
cysteine residue {C567}
MODIFICATION: cysteine residue {C623}
N-glycosylation site {N577}
cysteine residue {C623}
MODIFICATION: cysteine residue {C567}
N-glycosylation site {N680}
N-glycosylation site {N708}
immunoglobulin superfamily domain {740-832}
MOTIF: cysteine residue {C761}
MODIFICATION: cysteine residue {C816}
cysteine residue {C816}
MODIFICATION: cysteine residue {C761}
immunoglobulin superfamily domain {838-939}
MOTIF: cysteine residue {C863}
MODIFICATION: cysteine residue {C920}
N-glycosylation site {N908}
cysteine residue {C920}
MODIFICATION: cysteine residue {C863}
fibronectin type III domain or F3 module {941-1035}
transmembrane domain {1056-1076}
Binds to NPHS2 {1160-1241}
Database Correlations
OMIM correlations
MORBIDMAP 602716
UniProt O60500
PFAM correlations
Entrez Gene 4868
Kegg hsa:4868
References
- UniProt :accession O60500
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NPHS1