KIRREL

Kin of IRRE like (Drosophila)
Identifiers
Symbols	KIRREL; FLJ10845; MGC129542; MGC129543; NEPH1
External IDs	OMIM: 607428 HomoloGene: 10089 GeneCards: KIRREL Gene
Gene Ontology Molecular function • receptor activity Cellular component • plasma membrane • cell-cell junction • membrane • integral to membrane • cell projection membrane • dendritic shaft Biological process • excretion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55243	170643
Ensembl	ENSG00000183853	ENSMUSG00000041734
UniProt	Q96J84	n/a
RefSeq (mRNA)	NM_018240	n/a
RefSeq (protein)	NP_060710	n/a
Location (UCSC)	Chr 1: 157.96 – 158.07 Mb	Chr 3: 86.88 – 86.98 Mb
PubMed search	[1]	[2]

Kin of IRRE-like protein 1 is a protein that in humans is encoded by the KIRREL gene.^[1][2]

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (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]^[2]

Interactions

KIRREL has been shown to interact with Nephrin^[3][4] and Tight junction protein 1.^[3][5]

References

1. ^ Sellin L, Huber TB, Gerke P, Quack I, Pavenstadt 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. 
2. ^ ^{a b} "Entrez Gene: KIRREL kin of IRRE like (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55243. 
3. ^ ^{a b} Liu, Gang; Kaw Beenu, Kurfis Jayson, Rahmanuddin Syed, Kanwar Yashpal S, Chugh Sumant S (Jul. 2003). "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability". J. Clin. Invest. (United States) 112 (2): 209–21. doi:10.1172/JCI18242. ISSN 0021-9738. PMC 164293. PMID 12865409. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=164293. 
4. ^ Gerke, Peter; Huber Tobias B, Sellin Lorenz, Benzing Thomas, Walz Gerd (Apr. 2003). "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1". J. Am. Soc. Nephrol. (United States) 14 (4): 918–26. doi:10.1097/01.ASN.0000057853.05686.89. ISSN 1046-6673. PMID 12660326. 
5. ^ Huber, Tobias B; Schmidts Miriam, Gerke Peter, Schermer Bernhard, Zahn Anne, Hartleben Björn, Sellin Lorenz, Walz Gerd, Benzing Thomas (Apr. 2003). "The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1". J. Biol. Chem. (United States) 278 (15): 13417–21. doi:10.1074/jbc.C200678200. ISSN 0021-9258. PMID 12578837. 

Further reading

• Donoviel DB, Freed DD, Vogel H, et al. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=87176. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Huber TB, Schmidts M, Gerke P, et al. (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, et al. (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, et al. (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, et al. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=164293. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Brill LM, Salomon AR, Ficarro SB, et al. (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. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Kitamura A, Tsukaguchi H, Iijima K, et al. (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.