AutismKB 2.0

Annotation Details for JAG1


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Basic Information Top
Gene Symbol:JAG1 ( AGS,AHD,AWS,CD339,HJ1,JAGL1,MGC104644 )
Gene Full Name: jagged 1
Band: 20p12.2
Quick LinksEntrez ID:182; OMIM: 601920; Uniprot ID:JAG1_HUMAN; ENSEMBL ID: ENSG00000101384; HGNC ID: 6188
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576NAS-extracellular region11427524
GO:0005886IDA-plasma membrane20437614
GO:0005886TAS-plasma membrane-
GO:0005887NAS-integral component of plasma membrane11427524
GO:0005912ISS-adherens junction-
GO:0016020IMPcolocalizes_withmembrane22465068
GO:0016020TAS-membrane9268641
GO:0016324ISS-apical plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0005112IPI-Notch binding11006133
GO:0005112NAS-Notch binding9268641
GO:0005198NAS-structural molecule activity10679295
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding23086448
GO:0005543IMP-phospholipid binding22465068
GO:0008083NAS-growth factor activity11067884
GO ID Evidence Qualifier GO_term References
GO:0001525NAS-angiogenesis8955070
GO:0001709NAS-cell fate determination9207788
GO:0001974IEA-blood vessel remodeling-
GO:0002011IEA-morphogenesis of an epithelial sheet-
GO:0002456IMP-T cell mediated immunity23086448
GO:0003184IMP-pulmonary valve morphogenesis9207787
GO:0003215ISS-cardiac right ventricle morphogenesis-
GO:0007219IMP-Notch signaling pathway19682396
GO:0007219NAS-Notch signaling pathway9268641
GO:0007219TAS-Notch signaling pathway-
GO:0007220TAS-Notch receptor processing-
GO:0007399NAS-nervous system development8923452
GO:0030097NAS-hemopoiesis10329626
GO:0030216NAS-keratinocyte differentiation12107827
GO:0030334NAS-regulation of cell migration11549580
GO:0032495IEA-response to muramyl dipeptide-
GO:0035909ISS-aorta morphogenesis-
GO:0042127NAS-regulation of cell proliferation10329626
GO:0042491IEA-auditory receptor cell differentiation-
GO:0045445NAS-myoblast differentiation10329626
GO:0045446NAS-endothelial cell differentiation10329626
GO:0045599IEA-negative regulation of fat cell differentiation-
GO:0045602IEA-negative regulation of endothelial cell differentiation-
GO:0045639IEA-positive regulation of myeloid cell differentiation-
GO:0045665IEA-negative regulation of neuron differentiation-
GO:0045669IEA-positive regulation of osteoblast differentiation-
GO:0045747ISS-positive regulation of Notch signaling pathway-
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter20437614
GO:0060411ISS-cardiac septum morphogenesis-
GO:0061073IEA-ciliary body morphogenesis-
GO:0061156IMP-pulmonary artery morphogenesis9207787
GO:0061309ISS-cardiac neural crest cell development involved in outflow tract morphogenesis-
GO:0061314IC-Notch signaling involved in heart development9207787
GO:0061314IMP-Notch signaling involved in heart development20437614
GO:0061444ISS-endocardial cushion cell development-
GO:0072006ISS-nephron development-
GO:0072015ISS-glomerular visceral epithelial cell development-
GO:0072017IEA-distal tubule development-
GO:0072070IEA-loop of Henle development-
GO:0097150IEP-neuronal stem cell population maintenance19682396
GO:2000737IMP-negative regulation of stem cell differentiation19682396
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MLLT4JAG11104479707552 Two-hybrid
MLLT4JAG11066899707552 Two-hybrid
NOTCH2JAG111091510551863 10958687 11346656 Affinity Capture-Western; Reconstituted Complex
NOTCH2JAG110668910551863 10958687 11346656 Affinity Capture-Western; Reconstituted Complex
NOTCH1JAG111091311006133 Reconstituted Complex
NOTCH1JAG110668911006133 Reconstituted Complex
NOTCH3JAG111091611006133 Reconstituted Complex
NOTCH3JAG110668911006133 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
JAG1rs1051421, rs2273061, rs3817996, rs6040055, rs6077868, rs6108653, rs7828, rs8708, rs910118 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1095416
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-011128-2'