KIRREL explained
Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the KIRREL gene.[1] [2]
Function
NEPH1 is a member of the NEPH protein family, which includes NEPH2 (KIRREL3, MIM 607761) and NEPH3 (KIRREL2, MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766). NEPH1 is expressed in filtration slits of kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration of blood (Sellin et al., 2003). [supplied by OMIM]
Interactions
KIRREL has been shown to interact with Nephrin[3] [4] and Tight junction protein 1.[3] [5]
References
Further reading
- Donoviel DB, Freed DD, Vogel H, Potter DG, Hawkins E, Barrish JP, Mathur BN, Turner CA, Geske R, Montgomery CA, Starbuck M, Brandt M, Gupta A, Ramirez-Solis R, Zambrowicz BP, Powell DR . Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. . Mol. Cell. Biol. . 21 . 14 . 4829–36 . 2001 . 11416156 . 87176 . 10.1128/MCB.21.14.4829-4836.2001 .
- Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T . The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1. . J. Biol. Chem. . 278 . 15 . 13417–21 . 2003 . 12578837 . 10.1074/jbc.C200678200 . free .
- Barletta GM, Kovari IA, Verma RK, Kerjaschki D, Holzman LB . Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers. . J. Biol. Chem. . 278 . 21 . 19266–71 . 2003 . 12646566 . 10.1074/jbc.M301279200 . free .
- Gerke P, Huber TB, Sellin L, Benzing T, Walz G . Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. . J. Am. Soc. Nephrol. . 14 . 4 . 918–26 . 2003 . 12660326 . 10.1097/01.ASN.0000057853.05686.89 . free .
- Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS . Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. . J. Clin. Invest. . 112 . 2 . 209–21 . 2003 . 12865409 . 164293 . 10.1172/JCI18242 .
- Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC . Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. . Anal. Chem. . 76 . 10 . 2763–72 . 2004 . 15144186 . 10.1021/ac035352d .
- Kitamura A, Tsukaguchi H, Iijima K, Araki J, Hattori M, Ikeda M, Honda M, Nozu K, Nakazato H, Yoshikawa N, Kagami S, Muramatsu M, Choi Y, Cheong HI, Doi T . Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. . Nephrol. Dial. Transplant. . 21 . 11 . 3133–8 . 2007 . 16968734 . 10.1093/ndt/gfl347 . free .
Notes and References
- Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G . NEPH1 defines a novel family of podocin interacting proteins . FASEB J . 17 . 1 . 115–7 . Jan 2003 . 12424224 . 10.1096/fj.02-0242fje . free . 17732086 .
- Web site: Entrez Gene: KIRREL kin of IRRE like (Drosophila).
- Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS . Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability . J. Clin. Invest. . 112 . 2 . 209–21 . Jul 2003 . 12865409 . 164293 . 10.1172/JCI18242 .
- Gerke P, Huber TB, Sellin L, Benzing T, Walz G . Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1 . J. Am. Soc. Nephrol. . 14 . 4 . 918–26 . Apr 2003 . 12660326 . 10.1097/01.ASN.0000057853.05686.89 . free .
- Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T . The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1 . J. Biol. Chem. . 278 . 15 . 13417–21 . Apr 2003 . 12578837 . 10.1074/jbc.C200678200 . free .