JAG1 Knowpia

JAG1
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	2KB9, 2VJ2, 4CBZ, 4CC0, 4CC1, 4XI7, 5BO1
Identificadores
Alias	JAG1, Jag1, ABE2, Gsfabe2, Htu, Ozz, Ser-1, AGS, AHD, AWS, CD339, HJ1, JAGL1, jagged 1, AGS1, DCHE, jagged canonical Notch ligand 1, CMT2HH
IDs externos	OMIM: 601920 MGI: 1095416 HomoloGene: 180 GeneCards: JAG1
Enfermedades genéticamente relacionadas
	Síndrome de Alagille, tetralogía de Fallot
Ontología génica
Función molecular	• calcium ion binding; • structural molecule activity; • Notch binding; • GO:0001948, GO:0016582 unión a proteína plasmática; • growth factor activity; • phospholipid binding;
Componente celular	• componente integral de membrana; • zonula adherens; • membrana plasmática; • apical part of cell; • integral component of plasma membrane; • región extracelular; • apical plasma membrane; • membrana;
Proceso biológico	• Ruta de señalizacion notch; • T cell mediated immunity; • negative regulation of fat cell differentiation; • pulmonary valve morphogenesis; • glomerular visceral epithelial cell development; • endocardial cushion cell development; • loop of Henle development; • negative regulation of neuron differentiation; • distal tubule development; • pulmonary artery morphogenesis; • cardiac septum morphogenesis; • negative regulation of cell differentiation; • response to muramyl dipeptide; • ciliary body morphogenesis; • aorta morphogenesis; • desarrollo neural; • keratinocyte differentiation; • cardiac neural crest cell development involved in outflow tract morphogenesis; • neuronal stem cell population maintenance; • negative regulation of stem cell differentiation; • desarrollo de organismo multicelular; • comunicación celular; • blood vessel remodeling; • inner ear auditory receptor cell differentiation; • positive regulation of osteoblast differentiation; • regulation of cell population proliferation; • angiogénesis; • nephron development; • morfogénesis de órgano animal; • cell fate determination; • inner ear development; • endothelial cell differentiation; • camera-type eye development; • myoblast differentiation; • cardiac right ventricle morphogenesis; • morphogenesis of an epithelial sheet; • positive regulation of myeloid cell differentiation; • positive regulation of Notch signaling pathway; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • Notch signaling involved in heart development; • negative regulation of endothelial cell differentiation; • regulation of signaling receptor activity; • negative regulation of cell-matrix adhesion; • negative regulation of cell-cell adhesion; • negative regulation of cell migration; • hematopoyesis; • aortic valve morphogenesis; • cardiac epithelial to mesenchymal transition; • positive regulation of cardiac epithelial to mesenchymal transition; • negative regulation of Notch signaling pathway;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	; ; ; ;
	Más referencias a datos de expressión
Ortólogos
	182
	16449
	ENSG00000101384
	ENSMUSG00000027276
	P78504
	Q9QXX0
	NM_000214
	NM_013822
	NP_000205
	NP_038850
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

JAG1, también conocido como CD339 (cúmulo de diferenciación 339). es un gen localizado en el brazo corto del cromosoma 20, en humanos. Codifica para una proteína homómina de 1.218 aminoácidos y 133,8 kDa. El gen comienza a expresarse entre las primeras 32-42 semanas del desarrollo embrionario. Defectos en este gen se relacionan con el síndrome de Alagille.^[4]^[5]^[6]^[7]

Referencias

↑ «Diseases that are genetically associated with JAG1 view/edit references on wikidata».
↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ «Entrez Gene: JAG1 jagged 1 (Alagille syndrome)» (en inglés). Consultado el 6 de mayo de 2014.
↑ Shimizu, K; Chiba S; Saito T; Kumano K; Takahashi T; Hirai H (July 2001). «Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation». J. Biol. Chem. (United States) 276 (28): 25753-8. ISSN 0021-9258. PMID 11346656. doi:10.1074/jbc.M103473200.
↑ Shimizu, K; Chiba S; Kumano K; Hosoya N; Takahashi T; Kanda Y; Hamada Y; Yazaki Y et al. (November 1999). «Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods». J. Biol. Chem. (UNITED STATES) 274 (46): 32961-9. ISSN 0021-9258. PMID 10551863. doi:10.1074/jbc.274.46.32961.
↑ Shimizu, K; Chiba S; Hosoya N; Kumano K; Saito T; Kurokawa M; Kanda Y; Hamada Y et al. (September 2000). «Binding of Delta1, Jagged1, and Jagged2 to Notch2 Rapidly Induces Cleavage, Nuclear Translocation, and Hyperphosphorylation of Notch2». Mol. Cell. Biol. (UNITED STATES) 20 (18): 6913-22. ISSN 0270-7306. PMC 88767. PMID 10958687. doi:10.1128/MCB.20.18.6913-6922.2000.

Enlaces externos

Literatura del gen JAG1 a través de RARe-SOURCE

Datos: Q18251749

[1] «Diseases that are genetically associated with JAG1 view/edit references on wikidata».

[2] «Human PubMed Reference:».

[3] «Mouse PubMed Reference:».

[4] «Entrez Gene: JAG1 jagged 1 (Alagille syndrome)» (en inglés). Consultado el 6 de mayo de 2014.

[pmid11346656-5] Shimizu, K; Chiba S; Saito T; Kumano K; Takahashi T; Hirai H (July 2001). «Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation». J. Biol. Chem. (United States) 276 (28): 25753-8. ISSN 0021-9258. PMID 11346656. doi:10.1074/jbc.M103473200.

[pmid10551863-6] Shimizu, K; Chiba S; Kumano K; Hosoya N; Takahashi T; Kanda Y; Hamada Y; Yazaki Y et al. (November 1999). «Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods». J. Biol. Chem. (UNITED STATES) 274 (46): 32961-9. ISSN 0021-9258. PMID 10551863. doi:10.1074/jbc.274.46.32961.

[pmid10958687-7] Shimizu, K; Chiba S; Hosoya N; Kumano K; Saito T; Kurokawa M; Kanda Y; Hamada Y et al. (September 2000). «Binding of Delta1, Jagged1, and Jagged2 to Notch2 Rapidly Induces Cleavage, Nuclear Translocation, and Hyperphosphorylation of Notch2». Mol. Cell. Biol. (UNITED STATES) 20 (18): 6913-22. ISSN 0270-7306. PMC 88767. PMID 10958687. doi:10.1128/MCB.20.18.6913-6922.2000.

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Summary

Referencias

Enlaces externos