KIRREL
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the KIRREL gene.{{cite journal | vauthors = Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G | title = NEPH1 defines a novel family of podocin interacting proteins | journal = FASEB J | volume = 17 | issue = 1 | pages = 115–7 | date = Jan 2003 | pmid = 12424224 | doi = 10.1096/fj.02-0242fje | doi-access = free | s2cid = 17732086 }}{{cite web | title = Entrez Gene: KIRREL kin of IRRE like (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55243}}
Function
NEPH1 is a member of the NEPH protein family, which includes NEPH2 (KIRREL3, MIM [http://omim.org/entry/607761 607761]) and NEPH3 (KIRREL2, MIM [http://omim.org/entry/607762 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{{cite journal | vauthors = Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS | title = Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability | journal = J. Clin. Invest. | volume = 112 | issue = 2 | pages = 209–21 | date = Jul 2003 | pmid = 12865409 | pmc = 164293 | doi = 10.1172/JCI18242 }}{{cite journal | vauthors = Gerke P, Huber TB, Sellin L, Benzing T, Walz G | title = Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1 | journal = J. Am. Soc. Nephrol. | volume = 14 | issue = 4 | pages = 918–26 | date = Apr 2003 | pmid = 12660326 | doi = 10.1097/01.ASN.0000057853.05686.89 | doi-access = free }} and Tight junction protein 1.{{cite journal | vauthors = Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T | title = The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1 | journal = J. Biol. Chem. | volume = 278 | issue = 15 | pages = 13417–21 | date = Apr 2003 | pmid = 12578837 | doi = 10.1074/jbc.C200678200 | doi-access = free }}
References
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Further reading
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- {{cite journal | vauthors = 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 | title = Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. | journal = Mol. Cell. Biol. | volume = 21 | issue = 14 | pages = 4829–36 | year = 2001 | pmid = 11416156 | pmc = 87176 | doi = 10.1128/MCB.21.14.4829-4836.2001 }}
- {{cite journal | vauthors = Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T | title = The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1. | journal = J. Biol. Chem. | volume = 278 | issue = 15 | pages = 13417–21 | year = 2003 | pmid = 12578837 | doi = 10.1074/jbc.C200678200 | doi-access = free }}
- {{cite journal | vauthors = Barletta GM, Kovari IA, Verma RK, Kerjaschki D, Holzman LB | title = Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers. | journal = J. Biol. Chem. | volume = 278 | issue = 21 | pages = 19266–71 | year = 2003 | pmid = 12646566 | doi = 10.1074/jbc.M301279200 | doi-access = free }}
- {{cite journal | vauthors = Gerke P, Huber TB, Sellin L, Benzing T, Walz G | title = Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. | journal = J. Am. Soc. Nephrol. | volume = 14 | issue = 4 | pages = 918–26 | year = 2003 | pmid = 12660326 | doi = 10.1097/01.ASN.0000057853.05686.89 | doi-access = free }}
- {{cite journal | vauthors = Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS | title = Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. | journal = J. Clin. Invest. | volume = 112 | issue = 2 | pages = 209–21 | year = 2003 | pmid = 12865409 | pmc = 164293 | doi = 10.1172/JCI18242 }}
- {{cite journal | vauthors = Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC | title = Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. | journal = Anal. Chem. | volume = 76 | issue = 10 | pages = 2763–72 | year = 2004 | pmid = 15144186 | doi = 10.1021/ac035352d }}
- {{cite journal | vauthors = 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 | title = Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. | journal = Nephrol. Dial. Transplant. | volume = 21 | issue = 11 | pages = 3133–8 | year = 2007 | pmid = 16968734 | doi = 10.1093/ndt/gfl347 | doi-access = free }}
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