AAG17141.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
134,742 Da
NCBI Official Full Name
nephrin
NCBI Official Synonym Full Names
nephrosis 1, congenital, Finnish type (nephrin)
NCBI Protein Information
nephrin; renal glomerulus-specific cell adhesion receptor
UniProt Protein Name
Nephrin
UniProt Synonym Protein Names
Renal glomerulus-specific cell adhesion receptor
UniProt Synonym Gene Names
UniProt Entry Name
NPHN_HUMAN
NCBI Summary for NEPHRIN
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. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
UniProt Comments for NEPHRIN
NPHS1: 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. 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 KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1. Interacts with NPHS2. Specifically expressed in podocytes of kidney glomeruli. Belongs to the immunoglobulin superfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Cell adhesion; Immunoglobulin superfamily
Chromosomal Location of Human Ortholog: 19q13.1
Cellular Component: cell projection; protein complex; integral to plasma membrane; plasma membrane; lipid raft
Molecular Function: protein domain specific binding; protein binding; spectrin binding; myosin binding; alpha-actinin binding
Biological Process: skeletal muscle development; positive regulation of actin filament polymerization; glomerular basement membrane development; JNK cascade; cell adhesion; excretion; myoblast fusion
Disease: Nephrotic Syndrome, Type 1
Research Articles on NEPHRIN
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Products associated with NEPHRIN elisa kit
Pathways associated with NEPHRIN elisa kit
Diseases associated with NEPHRIN elisa kit
Organs/Tissues associated with NEPHRIN elisa kit
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