JAG1

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

El ligando Notch canónico dentado 1 (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]

Grupos de genes

Moléculas de CD
Genes del huésped codificadores de proteínas de microARN
Ligandos Notch canónicos

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
En HomoloGene: JAG1

En Genome:JAG1
En MalaCards.Enfermedades que coinciden con:JAG1
En Estudio de asociación del genoma completo (GWAS) JAG1

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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