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

Gene ID: 182, updated on 11-Jul-2021

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
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (10637684..10673999, complement)
105.20201022 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 SLX4 interacting protein Neighboring gene Sharpr-MPRA regulatory region 11569 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene microRNA 6870 Neighboring gene long intergenic non-protein coding RNA 1752 Neighboring gene uncharacterized LOC107985398

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alagille syndrome 1
MedGen: C1956125 OMIM: 118450 GeneReviews: Alagille Syndrome
Compare labs
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.
GeneReviews: Not available
Deafness, congenital heart defects, and posterior embryotoxon
MedGen: C1866053 OMIM: 617992 GeneReviews: Not available
Compare labs
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
GeneReviews: Not available
Tetralogy of Fallot
MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
Compare labs

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

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104644

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Notch binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables Notch binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables Notch binding NAS
Non-traceable Author Statement
more info
PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables growth factor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables phospholipid binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
involved_in Notch signaling involved in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in Notch signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in T cell mediated immunity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in aortic valve morphogenesis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell fate determination NAS
Non-traceable Author Statement
more info
PubMed 
involved_in ciliary body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in distal tubule development IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardial cushion cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endothelial cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in glomerular visceral epithelial cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hemopoiesis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in keratinocyte differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in loop of Henle development IEA
Inferred from Electronic Annotation
more info
 
involved_in morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
involved_in myoblast differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell-matrix adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nephron development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pulmonary artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell population proliferation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in response to muramyl dipeptide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
colocalizes_with membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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
    P78504
    UniProtKB/TrEMBL
    Q99740
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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