Nefrin

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NPHS1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

4ZRT

Identifikatori
AliasiNPHS1
Vanjski ID-jeviOMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1
Lokacija gena (čovjek)
Hromosom 19 (čovjek)
Hrom.Hromosom 19 (čovjek)[1]
Hromosom 19 (čovjek)
Genomska lokacija za NPHS1
Genomska lokacija za NPHS1
Bend19q13.12Početak35,825,372 bp[1]
Kraj35,869,287 bp[1]
Lokacija gena (miš)
Hromosom 7 (miš)
Hrom.Hromosom 7 (miš)[2]
Hromosom 7 (miš)
Genomska lokacija za NPHS1
Genomska lokacija za NPHS1
Bend7|7 B1Početak30,458,315 bp[2]
Kraj30,487,223 bp[2]
Ontologija gena
Molekularna funkcija myosin binding
GO:0001948 protein binding
Ćelijska komponenta integral component of membrane
projekcija ćelije
membrana
Ćelijska membrana
integral component of plasma membrane
intracellular anatomical structure
slit diaphragm
Egzosom
focal adhesion
Biološki proces Izlučivanje
glomerular visceral epithelial cell development
positive regulation of actin filament polymerization
glomerular basement membrane development
muscle organ development
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
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_004646

NM_019459

RefSeq (bjelančevina)

NP_004637

NP_062332

Lokacija (UCSC)Chr 19: 35.83 – 35.87 MbChr 7: 30.46 – 30.49 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Nefrin je neophodni protein za pravilno funkcioniranje bubrežne filtracijske barijere. Barijera bubrežne filtracije sastoji se od fenestriranih endotelnih ćelija, glomerulake bazne membrane i podocitnih epitelnih ćelija. Nefrin je transmembranski protein koji je strukturna komponenta prorezne dijafragme.[5] Nalaze se na vrhovima podocita kao zamršena mreža i prenose jake negativne naboje koji odbijaju proteine koji prelaze u Bowmanov prostor.

Kvar u genu za nefrin, NPHS1, povezan je sa urođenim nefrotskim sindromom finskog tipa i uzrokuje curenje ogromnih količina proteina u urin zvano proteinurija. Nefrin je također potreban za razvoj kardiovaskularnog sistema.[6]

Interakcije[uredi | uredi izvor]

Pokazano je da nefrin interagira sa proizvodima lokusa:

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000161270 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006649 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)".
  6. ^ Wagner N, Morrison H, Pagnotta S, Michiels JF, Schwab Y, Tryggvason K, Schedl A, Wagner KD (29. 3. 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.
  7. ^ 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. PMID 15331416.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
  12. ^ 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. PMID 11733557.

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]