KIRREL
| KIRREL | |||||||||||||||||
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| Identifiers | |||||||||||||||||
| Aliases | KIRREL, NEPH1, kin of IRRE like (Drosophila), Kin of IRRE-like protein 1 | ||||||||||||||||
| External IDs | MGI: 1891396 HomoloGene: 10089 GeneCards: KIRREL | ||||||||||||||||
| Genetically Related Diseases | |||||||||||||||||
| obesity[1] | |||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
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| Location (UCSC) | Chr 1: 157.99 – 158.1 Mb | Chr 3: 87.08 – 87.17 Mb | |||||||||||||||
| PubMed search | [2] | [3] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the KIRREL gene.[4][5]
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][5]
Interactions
KIRREL has been shown to interact with Nephrin[6][7] and Tight junction protein 1.[6][8]
References
- ↑ "Diseases that are genetically associated with KIRREL view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G (Jan 2003). "NEPH1 defines a novel family of podocin interacting proteins". FASEB J. 17 (1): 115–7. doi:10.1096/fj.02-0242fje. PMID 12424224.
- 1 2 "Entrez Gene: KIRREL kin of IRRE like (Drosophila)".
- 1 2 Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS (Jul 2003). "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability". J. Clin. Invest. 112 (2): 209–21. doi:10.1172/JCI18242. PMC 164293
. PMID 12865409. - ↑ Gerke P, Huber TB, Sellin L, Benzing T, Walz G (Apr 2003). "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1". J. Am. Soc. Nephrol. 14 (4): 918–26. doi:10.1097/01.ASN.0000057853.05686.89. PMID 12660326.
- ↑ Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T (Apr 2003). "The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1". J. Biol. Chem. 278 (15): 13417–21. doi:10.1074/jbc.C200678200. PMID 12578837.
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 (2001). "Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN.". Mol. Cell. Biol. 21 (14): 4829–36. doi:10.1128/MCB.21.14.4829-4836.2001. PMC 87176. PMID 11416156.
- Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T (2003). "The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1.". J. Biol. Chem. 278 (15): 13417–21. doi:10.1074/jbc.C200678200. PMID 12578837.
- Barletta GM, Kovari IA, Verma RK, Kerjaschki D, Holzman LB (2003). "Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers.". J. Biol. Chem. 278 (21): 19266–71. doi:10.1074/jbc.M301279200. PMID 12646566.
- Gerke P, Huber TB, Sellin L, Benzing T, Walz G (2003). "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1.". J. Am. Soc. Nephrol. 14 (4): 918–26. doi:10.1097/01.ASN.0000057853.05686.89. PMID 12660326.
- Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS (2003). "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.". J. Clin. Invest. 112 (2): 209–21. doi:10.1172/JCI18242. PMC 164293. PMID 12865409.
- Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC (2004). "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. doi:10.1021/ac035352d. PMID 15144186.
- 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 (2007). "Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.". Nephrol. Dial. Transplant. 21 (11): 3133–8. doi:10.1093/ndt/gfl347. PMID 16968734.
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