Nefrocistina 1
Protein NPHP1 PDB 1s1n.png
Estructura tridimensional de la proteína NPHP1.
HUGO 7905
Símbolo NPHP1
Símbolos alt. JBTS4; NPH1; SLSN1
Datos genéticos
Locus Cr. 2 q13
Bases de datos
Entrez 4867
OMIM 607100
PDB 1s1n
RefSeq NP_000263
UniProt O15259

La nefrocistina 1 (NPHP1) es una proteína codificada en humanos por el gen NPHP1.[1]

Este gen codifica una proteína con un dominio 3 homólogo a Src (SH3). Mutaciones en este gen causan nefronoptisis familiar juvenil y el Síndrome de Senior-Loken.[1]


La proteína NPHP1 ha demostrado ser capaz de interaccionar con:


  1. a b «Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)».
  2. Donaldson, J C; Dempsey P J, Reddy S, Bouton A H, Coffey R J, Hanks S K (Apr. 2000). «Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells». Exp. Cell Res. (UNITED STATES) 256 (1):  pp. 168–78. doi:10.1006/excr.2000.4822. ISSN 0014-4827. PMID 10739664. 
  3. a b Benzing, T; Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug. 2001). «Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2». Proc. Natl. Acad. Sci. U.S.A. (United States) 98 (17):  pp. 9784–9. doi:10.1073/pnas.171269898. ISSN 0027-8424. PMID 11493697. 
  4. Donaldson, John C; Dise Rebecca S, Ritchie Marylyn D, Hanks Steven K (Aug. 2002). «Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity». J. Biol. Chem. (United States) 277 (32):  pp. 29028–35. doi:10.1074/jbc.M111697200. ISSN 0021-9258. PMID 12006559. 
  5. Otto, Edgar A; Schermer Bernhard, Obara Tomoko, O'Toole John F, Hiller Karl S, Mueller Adelheid M, Ruf Rainer G, Hoefele Julia, Beekmann Frank, Landau Daniel, Foreman John W, Goodship Judith A, Strachan Tom, Kispert Andreas, Wolf Matthias T, Gagnadoux Marie F, Nivet Hubert, Antignac Corinne, Walz Gerd, Drummond Iain A, Benzing Thomas, Hildebrandt Friedhelm (Aug. 2003). «Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination». Nat. Genet. (United States) 34 (4):  pp. 413–20. doi:10.1038/ng1217. ISSN 1061-4036. PMID 12923538. 

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