Aliases for KIRREL1 Gene
External Ids for KIRREL1 Gene
Previous HGNC Symbols for KIRREL1 Gene
NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
GeneCards Summary for KIRREL1 Gene
KIRREL1 (Kirre Like Nephrin Family Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with KIRREL1 include Nephrotic Syndrome, Type 1 and Familial Nephrotic Syndrome. Among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell junction organization. An important paralog of this gene is KIRREL3.
UniProtKB/Swiss-Prot Summary for KIRREL1 Gene
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).