Homo sapiens Gene: JAG1
Summary
InnateDB Gene IDBG-54207.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JAG1
Gene Name jagged 1
Synonyms AGS; AHD; AWS; CD339; HJ1; JAGL1;
Species Homo sapiens
Ensembl Gene ENSG00000101384
Encoded Proteins
jagged 1
jagged 1
jagged 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:10637684-10674107
Strand Reverse strand
Band p12.2
Transcripts
ENST00000254958 ENSP00000254958
ENST00000423891
ENST00000488480
ENST00000617357
ENST00000612857
ENST00000613518 ENSP00000481034
ENST00000622545 ENSP00000484139
ENST00000620743
ENST00000617965
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 21 [view]
Protein-Protein 17 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005112 Notch binding
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008083 growth factor activity
Biological Process
GO:0001525 angiogenesis
GO:0001709 cell fate determination
GO:0001974 blood vessel remodeling
GO:0002011 morphogenesis of an epithelial sheet
GO:0002456 T cell mediated immunity
GO:0003184 pulmonary valve morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0007154 cell communication
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0007275 multicellular organismal development
GO:0007399 nervous system development
GO:0009887 organ morphogenesis
GO:0030097 hemopoiesis
GO:0030216 keratinocyte differentiation
GO:0030334 regulation of cell migration
GO:0032495 response to muramyl dipeptide
GO:0035909 aorta morphogenesis
GO:0042127 regulation of cell proliferation
GO:0042491 auditory receptor cell differentiation
GO:0043010 camera-type eye development
GO:0045445 myoblast differentiation
GO:0045446 endothelial cell differentiation
GO:0045596 negative regulation of cell differentiation
GO:0045599 negative regulation of fat cell differentiation
GO:0045639 positive regulation of myeloid cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045747 positive regulation of Notch signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048839 inner ear development
GO:0060411 cardiac septum morphogenesis
GO:0061073 ciliary body morphogenesis
GO:0061156 pulmonary artery morphogenesis
GO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis
GO:0061314 Notch signaling involved in heart development
GO:0061444 endocardial cushion cell development
GO:0072017 distal tubule development
GO:0072070 loop of Henle development
GO:0097150 neuronal stem cell maintenance
GO:2000737 negative regulation of stem cell differentiation
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0045177 apical part of cell
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
Notch pathway
REACTOME
Constitutive Signaling by NOTCH1 HD Domain Mutants pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signaling by NOTCH4 pathway
Signal Transduction pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH3 pathway
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
Activated NOTCH1 Transmits Signal to the Nucleus pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Disease pathway
KEGG
Notch signaling pathway pathway
INOH
GPCR signaling pathway
Notch signaling pathway pathway
PID BIOCARTA
PID NCI
Validated transcriptional targets of TAp63 isoforms
Notch signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 182
UniGene
RefSeq NM_000214
HUGO HGNC:6188
OMIM 601920
CCDS CCDS13112
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 182