Nefrin (protein)

NPHS1
Uygun yapılar
PDB	Ortolog araması: PDBe RCSB
PDB kimlik kodlarının listesi
	4ZRT
Tanımlayıcılar
Başka adlar	NPHS1
Dış kimlikler	OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1
Gen yerleşimi (İnsan)
Krom.	19. Kromozom (insan)
Bitiş	35,869,287 bç
Gen ontolojisi
Moleküler işlevi	• myosin binding; • GO:0001948, GO:0016582 protein bağlanması;
Hücresel bileşeni	• integral component of membrane; • cell projection; • membrane; • Hücre zarı; • integral component of plasma membrane; • intracellular anatomical structure; • slit diaphragm; • extracellular exosome; • focal adhesion;
Biyolojik süreci	• Boşaltım; • glomerular visceral epithelial cell development; • positive regulation of actin filament polymerization; • glomerular basement membrane development; • muscle organ development; • GO:0044061 regulation of excretion; • MAPK cascade; • multicellular organism development; • JNK cascade; • cell adhesion; • myoblast fusion; • skeletal muscle tissue development; • protein localization to synapse; • axon guidance; • T cell costimulation;
	Kaynaklar:Amigo / QuickGO
Ortologlar
	4868
	54631
	ENSG00000161270
	ENSMUSG00000006649
	O60500
	Q9QZS7
	NM_004646
	NM_019459
	NP_004637
	NP_062332
	Vikiveri
İnsan'ı Gör/Düzenle	Fare'yi Gör/Düzenle

Nefrin, glomerüler filtrasyon bariyerinin düzgün işlev göstermesi için gerekli olan bir proteindir. Glomerüler filtrasyon bariyeri; fenestre endotel hücrelerini, glomerüler bazal membranını ve epitel hücrelerin podositlerini içerir. Nefrin, slit diyaframın yapısal bir bileşeni olan bir transmembran proteindir.^[4] Bu proteinler, podositlerin ucunda bir karmaşık ağ şeklinde bulunur ve Bowman boşluğuna protein geçişini engelleyen güçlü eksi yüke sahiptir.

Nefrin genindeki, NPHS1, bir kusur, Fin tipi konjenital nefrotik sendromuyla ilişkilidir ve idrara fazla miktarda protein sızmasına veya proteinüriye, neden olur. Nefrin, kardiyovasküler gelişim için de gereklidir.^[5]

Etkileşimler

Nefrinin aşağıdaki proteinlerle etkileşime girdiği gösterilmiştir:

CASK,^[6]
CD2AP,^[6]
CDH3,^[6] ve
CTNND1,^[6]
FYN,^[7]^[8]
KIRREL,^[9]^[10] ve
NPHS2.^[11]

Ayrıca bakınız

Podosit

Kaynakça

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000161270 - Ensembl, May 2017
^ "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)". 2 Kasım 2008 tarihinde kaynağından arşivlendi.
^ Wagner N, Morrison H, Pagnotta S, Michiels JF, Schwab Y, Tryggvason K, Schedl A, Wagner KD (29 Mart 2011). "The podocyte protein nephrin is required for cardiac vessel formation". Human Molecular Genetics. 20 (11): 2182-94. doi:10.1093/hmg/ddr106 . PMID 21402589.
^ ^a ^b ^c ^d Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG (Sep 2004). "Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin". Am. J. Pathol. 165 (3): 923-36. doi:10.1016/S0002-9440(10)63354-8. PMC 1618613 $2. PMID 15331416.
^ Lahdenperä J, Kilpeläinen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K (Aug 2003). "Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases". Kidney Int. 64 (2): 404-13. doi:10.1046/j.1523-1755.2003.00097.x . PMID 12846735.
^ Verma R, Wharram B, Kovari I, Kunkel R, Nihalani D, Wary KK, Wiggins RC, Killen P, Holzman LB (Jun 2003). "Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin". J. Biol. Chem. 278 (23): 20716-23. doi:10.1074/jbc.M301689200 . PMID 12668668.
^ 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 $2. 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.
^ Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (Dec 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621-9. doi:10.1172/JCI12849. PMC 200981 $2. PMID 11733557.

Ek okuma

Dış bağlantılar

Medical Subject Headings nephrin

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000161270 - Ensembl, May 2017

[2] "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)". 2 Kasım 2008 tarihinde kaynağından arşivlendi.

[pmid21402589-5] Wagner N, Morrison H, Pagnotta S, Michiels JF, Schwab Y, Tryggvason K, Schedl A, Wagner KD (29 Mart 2011). "The podocyte protein nephrin is required for cardiac vessel formation". Human Molecular Genetics. 20 (11): 2182-94. doi:10.1093/hmg/ddr106 . PMID 21402589.

[pmid15331416-6] Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG (Sep 2004). "Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin". Am. J. Pathol. 165 (3): 923-36. doi:10.1016/S0002-9440(10)63354-8. PMC 1618613 $2. PMID 15331416.

[pmid12846735-7] Lahdenperä J, Kilpeläinen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K (Aug 2003). "Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases". Kidney Int. 64 (2): 404-13. doi:10.1046/j.1523-1755.2003.00097.x . PMID 12846735.

[pmid12668668-8] Verma R, Wharram B, Kovari I, Kunkel R, Nihalani D, Wary KK, Wiggins RC, Killen P, Holzman LB (Jun 2003). "Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin". J. Biol. Chem. 278 (23): 20716-23. doi:10.1074/jbc.M301689200 . PMID 12668668.

[pmid12865409-9] 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 $2. PMID 12865409.

[pmid12660326-10] 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.

[pmid11733557-11] Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (Dec 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621-9. doi:10.1172/JCI12849. PMC 200981 $2. PMID 11733557.

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Etkileşimler

Ayrıca bakınız

Kaynakça

Ek okuma

Dış bağlantılar

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