InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: JAG1

Summary

InnateDB Protein

IDBP-54209.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

JAG1

Protein Name

jagged 1

Synonyms

AGS; AHD; AWS; CD339; HJ1; JAGL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000254958

InnateDB Gene

IDBG-54207 (JAG1)

Protein Structure

UniProt Annotation

Function

Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). {ECO:0000250, ECO:0000269PubMed:18660822, ECO:0000269PubMed:9462510}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Alagille syndrome 1 (ALGS1) [MIM:118450]: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. {ECO:0000269PubMed:10220506, ECO:0000269PubMed:10533065, ECO:0000269PubMed:11058898, ECO:0000269PubMed:11139247, ECO:0000269PubMed:11157803, ECO:0000269PubMed:11180599, ECO:0000269PubMed:12442286, ECO:0000269PubMed:12497640, ECO:0000269PubMed:15712272, ECO:0000269PubMed:16575836, ECO:0000269PubMed:9207788, ECO:0000269PubMed:9585603}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269PubMed:11152664}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001007 von Willebrand factor, type C
IPR001774 Delta/Serrate/lag-2 (DSL) protein
IPR001881 EGF-like calcium-binding domain
IPR006552 VWC out
IPR011651 Notch ligand, N-terminal
IPR013111 EGF-like domain, extracellular

PFAM

PF00008
PF00093
PF01414
PF07645
PF07657
PF07974

PRINTS

PIRSF

SMART

SM00181
SM00214
SM00051
SM00179
SM00215

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P78504