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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 [2]
General
glycoprotein
membrane protein
phosphoprotein
Properties
SIZE: MW = 84 kD
entity length = 757 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-16}
immunoglobulin superfamily domain {21-115}
MOTIF: cysteine residue {C42}
MODIFICATION: cysteine residue {C100}
N-glycosylation site {N46}
cysteine residue {C100}
MODIFICATION: cysteine residue {C42}
immunoglobulin superfamily domain {120-216}
MOTIF: N-glycosylation site {N140}
cysteine residue {C143}
MODIFICATION: cysteine residue {C200}
cysteine residue {C200}
MODIFICATION: cysteine residue {C143}
immunoglobulin superfamily domain {223-299}
MOTIF: cysteine residue {C244}
MODIFICATION: cysteine residue {C287}
cysteine residue {C287}
MODIFICATION: cysteine residue {C244}
N-glycosylation site {N297}
immunoglobulin superfamily domain {308-387}
MOTIF: cysteine residue {C329}
MODIFICATION: cysteine residue {C371}
cysteine residue {C371}
MODIFICATION: cysteine residue {C329}
immunoglobulin superfamily domain {392-488}
MOTIF: cysteine residue {C413}
MODIFICATION: cysteine residue {C472}
N-glycosylation site {N471}
cysteine residue {C472}
MODIFICATION: cysteine residue {C413}
transmembrane domain {500-520}
Tyr phosphorylation site {Y605}
Tyr phosphorylation site {Y606}
Tyr phosphorylation site {Y622}
Tyr phosphorylation site {Y625}
Tyr phosphorylation site {Y724}
Database Correlations
OMIM 607428
UniProt Q96J84
PFAM correlations
Entrez Gene 55243
Kegg hsa:55243
References
- UniProt :accession Q96J84
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015