KIRREL

From Wikipedia, the free encyclopedia


Kin of IRRE like (Drosophila)
Identifiers
Symbol(s) KIRREL; FLJ10845; MGC129542; MGC129543; NEPH1
External IDs OMIM: 607428 HomoloGene: 81860
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 55243 n/a
Ensembl ENSG00000183853 n/a
Uniprot Q96J84 n/a
Refseq NM_018240 (mRNA)
NP_060710 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr 1: 156.23 - 156.34 Mb n/a
Pubmed search [1] n/a

Kin of IRRE like (Drosophila), also known as KIRREL, is a human gene.[1]

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003).[supplied by OMIM][1]

[edit] References

  1. ^ a b Entrez Gene: KIRREL kin of IRRE like (Drosophila).

[edit] 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. PMID 11416156. 
  • Sellin L, Huber TB, Gerke P, et al. (2003). "NEPH1 defines a novel family of podocin interacting proteins.". FASEB J. 17 (1): 115-7. doi:10.1096/fj.02-0242fje. PMID 12424224. 
  • 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. PMID 12477932. 
  • 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. 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/JCI200318242. PMID 12865409. 
  • 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. PMID 15489334. 
  • 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. 
 This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.