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JAG1 jagged 1 [ Homo sapiens (human) ]

Gene ID: 182, updated on 7-Aug-2014
Official Symbol
JAG1provided by HGNC
Official Full Name
jagged 1provided by HGNC
Primary source
HGNC:6188
See related
Ensembl:ENSG00000101384; HPRD:03562; 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; 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 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]
See JAG1 in Epigenomics, MapViewer
Location:
20p12.1-p11.23
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (10637684..10674046, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10618332..10654694, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene McKusick-Kaufman syndrome Neighboring gene SLX4 interacting protein Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 9 pseudogene Neighboring gene microRNA 6870 Neighboring gene uncharacterized LOC101929395 Neighboring gene uncharacterized LOC101929413 Neighboring gene FAT atypical cadherin 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alagille syndrome 1
MedGen: C1956125 OMIM: 118450 GeneReviews: Alagille Syndrome
Compare labs
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 (2012-04-05)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-05)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.
NHGRI GWA Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog

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 Protein Interaction Database

  • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
    Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
  • Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystemThe heterodimerization (HD) domain of NOTCH1, responsible for association of NOTCH1 extracellular and transmembrane regions after furin-mediated cleavage of NOTCH1 precursor, is one of the hotspots f...
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
  • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemNOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant is expressed in a small subset of T-cell acute lymphoblastic leukemia (T-ALL) patients. This mutant protein results from a translocation that joins a portion ...
  • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystemFBXW7 (FBW7) is a component of the SCF (SKP1, CUL1, and F-box protein) ubiquitin ligase complex SCF-FBW7 which is involved in the degradation of NOTCH1 (Oberg et al. 2001, Wu et al. 2001, Fryer et al...
  • NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystem (from REACTOME)
    NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystemSimilar to NOTCH1, NOTCH2 is activated by Delta-like and Jagged ligands (DLL/JAG) expressed in trans on a neighboring cell (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, organism-specific biosystem (from KEGG)
    Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Notch signaling pathway, organism-specific biosystem
    Notch signaling pathway
  • Notch signaling pathway, conserved biosystem (from KEGG)
    Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
  • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
  • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
  • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
  • Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
  • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
  • Signaling by NOTCH3, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH3, organism-specific biosystemSimilar to NOTCH1, NOTCH3 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH3, first by ADAM10 at the S2 cleav...
  • Signaling by NOTCH4, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH4, organism-specific biosystemSimilar to NOTCH1, NOTCH4 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH4, first by ADAM10 at the S2 cleav...
  • TNF signaling pathway, organism-specific biosystem (from KEGG)
    TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TNF signaling pathway, conserved biosystem (from KEGG)
    TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104644

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Notch binding NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
growth factor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Notch receptor processing TAS
Traceable Author Statement
more info
 
Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
Notch signaling involved in heart development IMP
Inferred from Mutant Phenotype
more info
 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
T cell mediated immunity IMP
Inferred from Mutant Phenotype
more info
 
angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cardiac neural crest cell development involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell fate determination NAS
Non-traceable Author Statement
more info
PubMed 
distal tubule development IEA
Inferred from Electronic Annotation
more info
 
endocardial cushion cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
hemopoiesis NAS
Non-traceable Author Statement
more info
PubMed 
keratinocyte differentiation NAS
Non-traceable Author Statement
more info
PubMed 
loop of Henle development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
myoblast differentiation NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
neuronal stem cell maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
 
pulmonary artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
 
regulation of cell migration NAS
Non-traceable Author Statement
more info
PubMed 
regulation of cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
response to muramyl dipeptide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
protein jagged-1
Names
protein jagged-1

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 

    Range
    5001..41363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000214.2NP_000205.1  protein jagged-1 precursor

    See proteins identical to NP_000205.1

    Status: REVIEWED

    Source sequence(s)
    AF028593, AI268246, BF056748, U73936, U77914
    Consensus CDS
    CCDS13112.1
    UniProtKB/Swiss-Prot
    P78504
    UniProtKB/TrEMBL
    Q99740
    Related
    ENSP00000254958, ENST00000254958
    Conserved Domains (4) summary
    pfam01414
    Location:167229
    Blast Score: 271
    DSL; Delta serrate ligand
    smart00215
    Location:863930
    Blast Score: 219
    VWC_out; von Willebrand factor (vWF) type C domain
    cd00054
    Location:629665
    Blast Score: 118
    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 ...
    pfam07657
    Location:31110
    Blast Score: 296
    MNNL; N terminus of Notch ligand

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    10637684..10674046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    10569771..10606135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    10618904..10655234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)