功能： developmental stage:In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.,disease:Defects in NPHS1 are the cause of congenital nephrotic syndrome of the Finnish type (NPHS1 or CNF) [MIM:256300]. CNF is an autosomal recessive disorder characterized by massive proteinuria in utero and nephrosis at birth.,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.,PTM:Phosphorylated on tyrosine residues.,similarity:Belongs to the immunoglobulin superfamily.,similarity:Contains 1 fibronectin type-III domain.,similarity:Contains 8 Ig-like C2-type (immunoglobulin-like) domains.,subcellular location:Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.,subunit:Interacts with podocin/NPHS2 and KIRREL. Interacts with CD2AP C-terminal domain (By similarity). Interacts with MAGI1 PDZ 2 and 3 domains forming a tripartite complex with IGSF5/JAM4 (By similarity). Interacts with DDN; the interaction is direct.,tissue specificity:Specifically expressed in podocytes of kidney glomeruli.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein . Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. .
组织表达： Specifically expressed in podocytes of kidney glomeruli.
功能： developmental stage:In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.,disease:Defects in NPHS1 are the cause of congenital nephrotic syndrome of the Finnish type (NPHS1 or CNF) [MIM:256300]. CNF is an autosomal recessive disorder characterized by massive proteinuria in utero and nephrosis at birth.,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.,PTM:Phosphorylated on tyrosine residues.,similarity:Belongs to the immunoglobulin superfamily.,similarity:Contains 1 fibronectin type-III domain.,similarity:Contains 8 Ig-like C2-type (immunoglobulin-like) domains.,subcellular location:Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.,subunit:Interacts with podocin/NPHS2 and KIRREL. Interacts with CD2AP C-terminal domain (By similarity). Interacts with MAGI1 PDZ 2 and 3 domains forming a tripartite complex with IGSF5/JAM4 (By similarity). Interacts with DDN; the interaction is direct.,tissue specificity:Specifically expressed in podocytes of kidney glomeruli.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein . Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. .
组织表达： Specifically expressed in podocytes of kidney glomeruli.
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