JAG1

JAG1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2KB9, 2VJ2, 4CBZ, 4CC0, 4CC1, 4XI7, 5BO1
Identifikatori
Aliasi	JAG1
Vanjski ID-jevi	OMIM: 601920 MGI: 1095416 HomoloGene: 180 GeneCards: JAG1
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	10,673,999 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	136,958,564 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• calcium ion binding; • structural molecule activity; • Notch binding; • GO:0001948, GO:0016582 vezivanje za proteine; • growth factor activity; • phospholipid binding;
Ćelijska komponenta	• integral component of membrane; • adherens junction; • ćelijska membrana; • apical part of cell; • integral component of plasma membrane; • extracellular region; • apical plasma membrane; • membrana;
Biološki proces	• Notch signaling pathway; • 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; • nervous system development; • keratinocyte differentiation; • cardiac neural crest cell development involved in outflow tract morphogenesis; • neuronal stem cell population maintenance; • negative regulation of stem cell differentiation; • multicellular organism development; • cell communication; • blood vessel remodeling; • inner ear auditory receptor cell differentiation; • positive regulation of osteoblast differentiation; • regulation of cell population proliferation; • Angiogeneza; • nephron development; • animal organ morphogenesis; • 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; • Hematopoeza; • aortic valve morphogenesis; • cardiac epithelial to mesenchymal transition; • positive regulation of cardiac epithelial to mesenchymal transition; • negative regulation of Notch signaling pathway;
	Izvori:Amigo / QuickGO
Ortolozi
	182
	16449
	ENSG00000101384
	ENSMUSG00000027276
	P78504
	Q9QXX0
	NM_000214
	NM_013822
	NP_000205
	NP_038850
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Nazubljeni zarezni protein 1 (JAG1) jest jedan od pet površinskih proteina ćelija (liganda), koji stupaju u interakciju sa četiri receptora na putu sisarske zarezne signalizacije. Signalni zarezni put je visoko konzervirani put koji funkcionira za uspostavljanje i regulaciju odluka o sudbini ćelija u mnogim organskim sistemima. Kada se dese interakcije JAG1-NOTCH (receptor-ligand), aktivira se kaskada proteolitskog cijepanja što rezultira aktivacijom transkripcije za ciljne nizvodne gene. Smješten na ljudskom hromosomu 20, gen JAG1 eksprimiran je u više organskih sistema u tijelu i uzrokuje autosomno dominantni poremećaj Alagilleov sindrom (ALGS) koji je rezultat gubitka funkcije mutacije unutar gena. JAG1 je takođe označen kao CD339 (klaster diferencijacije 339).

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101384 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027276 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101384 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027276 - 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.

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