Gene

jag1a

ID

ZDB-GENE-011128-2

Name

jagged canonical Notch ligand 1a

Symbol

jag1a Nomenclature History

Previous Names

jag1
cb243 (1)
jagged1a (1)
sb:cb243

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Is predicted to enable Notch binding activity. Acts upstream of or within hematopoietic stem cell differentiation and thyroid gland development. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including digestive system; lens placode; nervous system; neural keel; and neural tube. Human ortholog(s) of this gene implicated in Alagille syndrome; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Orthologous to human JAG1 (jagged canonical Notch ligand 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

18 figures from 13 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb243 (16 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With jag1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Alagille syndrome	Alliance	Alagille syndrome 1	118450
tetralogy of Fallot	Alliance	Tetralogy of Fallot	187500
		Charcot-Marie-Tooth disease, axonal, type 2HH	619574
		?Deafness, congenital heart defects, and posterior embryotoxon	617992

Associated With jag1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR013032	EGF-like, conserved site
Conserved_site	IPR018097	EGF-like calcium-binding, conserved site
Domain	IPR000742	EGF-like domain
Domain	IPR001007	VWFC domain
Domain	IPR001774	Delta/Serrate/lag-2 (DSL) protein
Domain	IPR001881	EGF-like calcium-binding domain
Domain	IPR011651	Notch ligand, N-terminal domain
Family	IPR026219	Jagged/Serrate protein
Family	IPR033108	Protein jagged-1
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site

Domain Details Per Protein

Protein	Length	Delta/Serrate/lag-2 (DSL) protein	EGF-like calcium-binding, conserved site	EGF-like calcium-binding domain	EGF-like, conserved site	EGF-like domain	EGF-type aspartate/asparagine hydroxylation site	Growth factor receptor cysteine-rich domain superfamily	Jagged/Serrate protein	Notch ligand, N-terminal domain	Protein jagged-1	VWFC domain
UniProtKB:B8JKQ5 InterPro	1253
UniProtKB:B3DGP3 InterPro	1242
UniProtKB:Q90Y57 InterPro	1242
UniProtKB:A1A3Y8 InterPro	1242
UniProtKB:F1QP77 InterPro	1242