NPHP1

Nefrocistina 1
	; Estructura tridimensional de la proteína NPHP1.
Estructuras disponibles
PDB	Buscar ortólogos: PDBe, RCSB Lista de códigos PDB 1s1n
Identificadores
Símbolos	NPHP1 (HGNC: 7905) JBTS4; NPH1; SLSN1
Identificadores; externos	OMIM: 607100 ; EBI: NPHP1; GeneCards: Gen NPHP1; UniProt: NPHP1;
Locus	Cr. 2 q13
	Referencias: AmiGO / QuickGO
Ortólogos
Humano	Ratón
4867
O15259	n/a
NP_000263	n/a
	v; t; e;
	[editar datos en Wikidata]

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]

Interacciones editar

La proteína NPHP1 ha demostrado ser capaz de interaccionar con:

Referencias editar

↑ ^a ^b «Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)».
↑ Donaldson, J C; Dempsey P J, Reddy S, Bouton A H, Coffey R J, Hanks S K (Apr. de 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): 168-78. ISSN 0014-4827. PMID 10739664. doi:10.1006/excr.2000.4822.
↑ ^a ^b Benzing, T; Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug. de 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): 9784-9. ISSN 0027-8424. PMID 11493697. doi:10.1073/pnas.171269898.
↑ Donaldson, John C; Dise Rebecca S, Ritchie Marylyn D, Hanks Steven K (Aug. de 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): 29028-35. ISSN 0021-9258. PMID 12006559. doi:10.1074/jbc.M111697200.
↑ 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. de 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): 413-20. ISSN 1061-4036. PMID 12923538. doi:10.1038/ng1217.

Datos: Q21113785

[entrez-1] «Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)».

[pmid10739664-2] Donaldson, J C; Dempsey P J, Reddy S, Bouton A H, Coffey R J, Hanks S K (Apr. de 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): 168-78. ISSN 0014-4827. PMID 10739664. doi:10.1006/excr.2000.4822.

[pmid11493697-3] Benzing, T; Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug. de 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): 9784-9. ISSN 0027-8424. PMID 11493697. doi:10.1073/pnas.171269898.

[pmid12006559-4] Donaldson, John C; Dise Rebecca S, Ritchie Marylyn D, Hanks Steven K (Aug. de 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): 29028-35. ISSN 0021-9258. PMID 12006559. doi:10.1074/jbc.M111697200.

[pmid12872123-5] 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. de 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): 413-20. ISSN 1061-4036. PMID 12923538. doi:10.1038/ng1217.

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