kin of IRRE-like protein 1; kin of irregular chiasm-like protein 1; nephrin-like protein 1 (KIRREL, NEPH1)

Function

• role in normal development & function of glomerular permeability
• signaling protein
• in conjunction with TEC kinases trans-activates transcription factor AP1
• interacts with nephrin, TJP1, podocin
  • interaction is dependent on KIRREL glycosylation
• phosphorylation regulates interaction with NSH2
• phosphorylated at Tyr-605 & Tyr-606 by FYN, leading to GRB2 binding (putative)

Structure

• N-glycosylated
• homodimer (via the Ig-like domains)
• belongs to the immunoglobulin superfamily
• contains 5 Ig-like C2-type domains

Compartment

• membrane, single-pass type 1 membrane protein
• predominantly at podocyte slit diaphragm

Alternative splicing

named isoforms=3

Expression

• expressed in kidney, podocytes of kidney glomeruli

Pathology

• defects associated with Finnish-type congenital nephropathy

More general terms

• membrane protein
• phosphoprotein
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55243
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55243
• OMIM: https://mirror.omim.org/entry/607428
• UniProt: http://www.uniprot.org/uniprot/Q96J84.html