background:
Neph1(Kirrel) belongs to a family of three closely related transmembrane proteins of the Ig superfamily with a structure similar to that of nephrin. Neph1 consists of a signal peptide, five Ig-like C2-type domains with the middle domain overlapping with a PKD-like domain, an RGD sequence, a transmembrane domain and a cytoplasmic tail. Neph1 is abundantly expressed in the kidney, specifically expressed in podocytes of kidney glomeruli, and plays a significant role in the normal development and function of the glomerular permeability. Neph1 interacts with nephrin in vitro and in vivo, and able to stimulate transcriptional activation in a model system, such as the activation the transcription factor AP-1 via the stimulation of a MAPK module. Neph1 is crucial for the integrity of the slit diaphragm, as Neph1 gene knockout mice results in effacement of glomerular podocytes, heavy proteinuria, and early postnatal death.
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Tissue specificity:
Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.
Function:
Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity).
Subunit:
Interacts with TJP1/ZO-1 and with NPHS2/podocin (via the SLCterminus). Interacts with NPHS1/nephrin (via the Ig-like domains); this interaction is dependent on KIRREL glycosylation. Homodimer (via the Ig-like domains). Interacts when tyrosine-phosphorylated with GRB2 (By similarity).
Subcellular Location:
Cell membrane; Single-pass type I membrane protein.
Tissue Specificity:
Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.
Post-translational modifications:
Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).
N-glycosylated (By similarity).
Similarity:
Belongs to the immunoglobulin superfamily.
Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
Database links:
UniProtKB/Swiss-Prot: Q96J84.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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