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 23 and Nephrotic Syndrome, Type 1. Among its related pathways are Cell junction organization and Nephrin interactions. 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).