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JAG1 jagged canonical Notch ligand 1 [ Homo sapiens (human) ]

Gene ID: 182, updated on 4-Jan-2025

Summary

Official Symbol
JAG1provided by HGNC
Official Full Name
jagged canonical Notch ligand 1provided by HGNC
Primary source
HGNC:HGNC:6188
See related
Ensembl:ENSG00000101384 MIM:601920; AllianceGenome:HGNC:6188
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH
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 is involved in signaling processes. 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, Nov 2019]
Expression
Ubiquitous expression in placenta (RPKM 27.7), skin (RPKM 22.8) and 24 other tissues See more
Orthologs
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Genomic context

See JAG1 in Genome Data Viewer
Location:
20p12.2
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (10637684..10673999, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (10680698..10717017, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10618332..10654647, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128706665 Neighboring gene uncharacterized LOC128706666 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:10399946-10401145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12671 Neighboring gene NANOG hESC enhancer GRCh37_chr20:10412265-10412766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17543 Neighboring gene MKKS centrosomal shuttling protein Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:10447220-10447919 Neighboring gene SLX4 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17545 Neighboring gene Sharpr-MPRA regulatory region 2397 Neighboring gene Sharpr-MPRA regulatory region 8388 Neighboring gene Sharpr-MPRA regulatory region 5326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:10529678-10530178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17547 Neighboring gene Sharpr-MPRA regulatory region 6934 Neighboring gene Sharpr-MPRA regulatory region 11569 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:10578661-10579860 Neighboring gene DNAJC9 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10617378-10618174 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10618175-10618971 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10621299-10622074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10622075-10622850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12672 Neighboring gene Sharpr-MPRA regulatory region 15707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12675 Neighboring gene microRNA 6870 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:10686119-10687318 Neighboring gene long intergenic non-protein coding RNA 1752 Neighboring gene uncharacterized LOC107985398

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-10-19)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-19)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.
EBI GWAS Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
EBI GWAS Catalog
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of jagged 1 (JAG1; HJ1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC104644

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Notch binding  
enables Notch binding PubMed 
enables Notch binding PubMed 
enables calcium ion binding  
enables growth factor activity PubMed 
enables molecular adaptor activity PubMed 
enables molecular adaptor activity PubMed 
enables phospholipid binding PubMed 
enables protein binding PubMed 
enables structural molecule activity PubMed 
Items 1 - 25 of 45
Process Evidence Code Pubs
involved_in Notch signaling pathway PubMed 
involved_in Notch signaling pathway  
involved_in Notch signaling pathway PubMed 
involved_in T cell mediated immunity PubMed 
involved_in angiogenesis PubMed 
involved_in aorta morphogenesis  
involved_in aortic valve morphogenesis PubMed 
involved_in blood vessel remodeling  
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis  
involved_in cardiac right ventricle morphogenesis  
involved_in cardiac septum morphogenesis  
involved_in cell fate determination PubMed 
involved_in ciliary body morphogenesis  
involved_in distal tubule development  
involved_in endocardial cushion cell development  
involved_in endothelial cell differentiation PubMed 
involved_in hemopoiesis PubMed 
involved_in inhibition of neuroepithelial cell differentiation  
involved_in inner ear auditory receptor cell differentiation  
involved_in keratinocyte differentiation PubMed 
involved_in loop of Henle development  
involved_in morphogenesis of an epithelial sheet  
involved_in myoblast differentiation PubMed 
involved_in negative regulation of cell migration PubMed 
involved_in negative regulation of cell-cell adhesion PubMed 
involved_in negative regulation of cell-matrix adhesion PubMed 
involved_in negative regulation of endothelial cell differentiation  
involved_in negative regulation of fat cell differentiation  
involved_in negative regulation of neuron differentiation  
involved_in negative regulation of stem cell differentiation PubMed 
involved_in nephron development  
involved_in nervous system development PubMed 
involved_in neuroendocrine cell differentiation  
involved_in neuronal stem cell population maintenance PubMed 
involved_in podocyte development  
involved_in positive regulation of Notch signaling pathway  
involved_in positive regulation of cardiac epithelial to mesenchymal transition  
involved_in positive regulation of myeloid cell differentiation  
involved_in positive regulation of osteoblast differentiation  
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in pulmonary artery morphogenesis PubMed 
involved_in pulmonary valve morphogenesis PubMed 
involved_in regulation of cell population proliferation PubMed 
involved_in regulation of epithelial cell proliferation  
involved_in response to muramyl dipeptide  
Items 1 - 25 of 45
Component Evidence Code Pubs
located_in adherens junction  
located_in apical plasma membrane  
located_in extracellular region PubMed 
colocalizes_with membrane PubMed 
located_in membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007496.1 RefSeqGene

    Range
    5048..41363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1191

mRNA and Protein(s)

  1. NM_000214.3NP_000205.1  protein jagged-1 precursor

    See identical proteins and their annotated locations for NP_000205.1

    Status: REVIEWED

    Source sequence(s)
    AA933912, AF028593, AI268246, BF056748, U73936
    Consensus CDS
    CCDS13112.1
    UniProtKB/Swiss-Prot
    A0AV43, B4DYR1, E9PCF9, O14902, O15122, P78504, Q15816
    UniProtKB/TrEMBL
    B2R6U9
    Related
    ENSP00000254958.4, ENST00000254958.10
    Conserved Domains (5) summary
    smart00215
    Location:863930
    VWC_out; von Willebrand factor (vWF) type C domain
    cd00054
    Location:629665
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00008
    Location:748777
    EGF; EGF-like domain
    pfam01414
    Location:167229
    DSL; Delta serrate ligand
    pfam07657
    Location:32106
    MNNL; N terminus of Notch ligand

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    10637684..10673999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    10680698..10717017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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