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kin of IRRE-like protein 3; kin of irregular chiasm-like protein 3; nephrin-like protein 2 (KIRREL3, NEPH2, KIAA1867)
Function:
- hematopoietic support of stroma cells (putative)
- interacts with the C-terminus of NPHS2/podocin
Structure:
- belongs to the immunoglobulin superfamily
- contains 5 Ig-like C2-type domains
Compartment:
- membrane: single-pass type 1 membrane protein
Alternative splicing: named isoforms=2
Expression:
- expressed in fetal & adult brain
- expressed in podocytes of kidney glomeruli
Pathology:
- chromosomal translocation t(11;16)(q24.2;q24) involving KIRREL3 & CDH15 is found in a patient with severe mental retardation & dysmorphic facial features
- defects in KIRREL3 associated with
- mental retardation, autosomal dominant 4 (MRD4)
- defects in NEPH2 associated with
- familial focal segmental glomerulosclerosis
- Finnish-type congenital nephropathy
Related
nephrin; renal glomerulus-specific cell adhesion receptor (NPHS1 NPHN)
General
glycoprotein
membrane protein
Properties
SIZE: MW = 85 kD
entity length = 778 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-21}
immunoglobulin superfamily domain {48-142}
MOTIF: cysteine residue {C69}
MODIFICATION: cysteine residue {C127}
cysteine residue {C127}
MODIFICATION: cysteine residue {C69}
immunoglobulin superfamily domain {147-243}
MOTIF: N-glycosylation site {N167}
cysteine residue {C170}
MODIFICATION: cysteine residue {C227}
cysteine residue {C227}
MODIFICATION: cysteine residue {C170}
immunoglobulin superfamily domain {249-330}
MOTIF: N-glycosylation site {N253}
cysteine residue {C271}
MODIFICATION: cysteine residue {C314}
cysteine residue {C314}
MODIFICATION: cysteine residue {C271}
N-glycosylation site {N324}
immunoglobulin superfamily domain {335-415}
MOTIF: cysteine residue {C356}
MODIFICATION: cysteine residue {C398}
cysteine residue {C398}
MODIFICATION: cysteine residue {C356}
immunoglobulin superfamily domain {419-515}
MOTIF: cysteine residue {C440}
MODIFICATION: cysteine residue {C499}
N-glycosylation site {N498}
cysteine residue {C499}
MODIFICATION: cysteine residue {C440}
transmembrane domain {536-556}
serine-rich region {701-767}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 607761
UniProt Q8IZU9
PFAM correlations
Entrez Gene 84623
Kegg hsa:84623
References
- UniProt :accession Q8IZU9
- PMID: 19012874
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015