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Aliases for JAG1 Gene

Aliases for JAG1 Gene

  • Jagged 1 2 3 5
  • JAGL1 3 4
  • HJ1 3 4
  • Alagille Syndrome 2
  • Protein Jagged-1 3
  • CD339 Antigen 4
  • Jagged1 4
  • CD339 3
  • AGS1 3
  • AHD 3
  • AWS 3
  • AGS 3

External Ids for JAG1 Gene

Previous HGNC Symbols for JAG1 Gene

  • AGS
  • JAGL1

Previous GeneCards Identifiers for JAG1 Gene

  • GC20M010606
  • GC20M010613
  • GC20M010566
  • GC20M010618
  • GC20M010569

Summaries for JAG1 Gene

Entrez Gene Summary for JAG1 Gene

  • 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]

GeneCards Summary for JAG1 Gene

JAG1 (Jagged 1) is a Protein Coding gene. Diseases associated with JAG1 include Alagille Syndrome and Tetralogy Of Fallot. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and NOTCH2 Activation and Transmission of Signal to the Nucleus. GO annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is JAG2.

UniProtKB/Swiss-Prot for JAG1 Gene

  • 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).

Gene Wiki entry for JAG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAG1 Gene

Genomics for JAG1 Gene

Regulatory Elements for JAG1 Gene

Enhancers for JAG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F011248 0.6 ENCODE 19.9 -574.7 -574700 0.5 PKNOX1 MTA2 EED EBF1 WT1 NR2F2 TRIM28 JAG1 GC20P011248 LOC339593
GH20F011542 1 Ensembl ENCODE 14.5 -869.5 -869511 2.0 CTCF ZNF654 FOXA3 SMC3 TRIM22 RAD21 MYC MAFK JAG1 ENSG00000282478 LIN28AP3
GH20F010650 0.9 Ensembl ENCODE 12 +20.0 20021 6.5 ATF1 ZFP64 ARID4B ZNF48 RAD21 RARA CREM EGR2 CEBPB MIER2 JAG1 MIR6870 LOC105372526
GH20F010647 0.2 ENCODE 12 +25.2 25215 3.7 CTCF MTA2 SAP130 MNT RAD21 SSRP1 POLR2A FOS FOXP2 MYC JAG1 MIR6870 PIR47988
GH20F010695 0.5 ENCODE 11.8 -22.2 -22223 2.1 CTCF ZBTB33 ZNF644 RAD21 JAG1 GC20M010678 LINC01752
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around JAG1 on UCSC Golden Path with GeneCards custom track

Promoters for JAG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119018 1507 5601 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS

Genomic Location for JAG1 Gene

Chromosome:
20
Start:
10,637,684 bp from pter
End:
10,674,107 bp from pter
Size:
36,424 bases
Orientation:
Minus strand

Genomic View for JAG1 Gene

Genes around JAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAG1 Gene

Proteins for JAG1 Gene

  • Protein details for JAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78504-JAG1_HUMAN
    Recommended name:
    Protein jagged-1
    Protein Accession:
    P78504
    Secondary Accessions:
    • A0AV43
    • B4DYR1
    • E9PCF9
    • O14902
    • O15122
    • Q15816

    Protein attributes for JAG1 Gene

    Size:
    1218 amino acids
    Molecular mass:
    133799 Da
    Quaternary structure:
    • Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions).
    SequenceCaution:
    • Sequence=AAC51323.1; Type=Frameshift; Positions=1187; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JAG1 Gene

    Alternative splice isoforms for JAG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAG1 Gene

Post-translational modifications for JAG1 Gene

  • Ubiquitination at Lys 1123
  • Glycosylation at Asn 143, Asn 217, Asn 382, Asn 559, Asn 585, Asn 745, Asn 960, Asn 991, Asn 1045, and Asn 1064
  • Modification sites at PhosphoSitePlus

Other Protein References for JAG1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for JAG1 (JAG1)

No data available for DME Specific Peptides for JAG1 Gene

Domains & Families for JAG1 Gene

Gene Families for JAG1 Gene

Graphical View of Domain Structure for InterPro Entry

P78504

UniProtKB/Swiss-Prot:

JAG1_HUMAN :
  • The second EGF-like domain is atypical.
Domain:
  • The second EGF-like domain is atypical.
  • Contains 1 DSL domain.
  • Contains 16 EGF-like domains.
genes like me logo Genes that share domains with JAG1: view

Function for JAG1 Gene

Molecular function for JAG1 Gene

GENATLAS Biochemistry:
NOTCH1 ligand,homolog to rat jagged 1 and Drosophila serrate,Rel/NFKB responsive gene,expressed in fetal heart at early and late stages of cardiovascular-development,liver,mutated in Alagille syndrome
UniProtKB/Swiss-Prot 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).

LifeMap Function Summary for JAG1 Gene

During embryonic development, JAG1 as signaling molecule is secreted from the following cells

Gene Ontology (GO) - Molecular Function for JAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding NAS 9268641
GO:0005198 structural molecule activity NAS 10679295
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 23086448
GO:0008083 growth factor activity NAS 11067884
genes like me logo Genes that share ontologies with JAG1: view
genes like me logo Genes that share phenotypes with JAG1: view

Human Phenotype Ontology for JAG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JAG1 Gene

MGI Knock Outs for JAG1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAG1

Cell Line Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JAG1 Gene

Localization for JAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAG1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JAG1 Gene COMPARTMENTS Subcellular localization image for JAG1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
golgi apparatus 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for JAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 11427524
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 11427524
GO:0005912 adherens junction IEA,ISS --
GO:0016020 membrane TAS 9268641
genes like me logo Genes that share ontologies with JAG1: view

Pathways & Interactions for JAG1 Gene

genes like me logo Genes that share pathways with JAG1: view

SIGNOR curated interactions for JAG1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for JAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis NAS 8955070
GO:0001709 cell fate determination NAS 9207788
GO:0001974 blood vessel remodeling IEA --
GO:0002011 morphogenesis of an epithelial sheet IEA --
GO:0002456 T cell mediated immunity IMP 23086448
genes like me logo Genes that share ontologies with JAG1: view

Drugs & Compounds for JAG1 Gene

(1) Drugs for JAG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with JAG1: view

Transcripts for JAG1 Gene

Unigene Clusters for JAG1 Gene

Jagged 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAG1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAG1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - -
SP2: - - - - - - - - - - - - - - -
SP3:
SP4: - -
SP5: -
SP6:
SP7: -
SP8:
SP9:

ExUns: 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b · 27c
SP1: - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for JAG1 Gene

GeneLoc Exon Structure for
JAG1
ECgene alternative splicing isoforms for
JAG1

Expression for JAG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JAG1 Gene

This gene is overexpressed in Artery - Tibial (x5.1).

Protein differential expression in normal tissues from HIPED for JAG1 Gene

This gene is overexpressed in Amniocyte (40.1), Plasma (14.5), and Gallbladder (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JAG1 Gene



NURSA nuclear receptor signaling pathways regulating expression of JAG1 Gene:

JAG1

SOURCE GeneReport for Unigene cluster for JAG1 Gene:

Hs.626544

mRNA Expression by UniProt/SwissProt for JAG1 Gene:

P78504-JAG1_HUMAN
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.
genes like me logo Genes that share expression patterns with JAG1: view

Primer Products

No data available for Protein tissue co-expression partners for JAG1 Gene

Orthologs for JAG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for JAG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JAG1 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia JAG1 34 35
  • 91.82 (n)
oppossum
(Monodelphis domestica)
Mammalia JAG1 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jag1 34
  • 90.5 (n)
mouse
(Mus musculus)
Mammalia Jag1 34 16 35
  • 90.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia JAG1 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JAG1 34 35
  • 89.76 (n)
chicken
(Gallus gallus)
Aves JAG1 34 35
  • 80.54 (n)
lizard
(Anolis carolinensis)
Reptilia JAG1 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jag1 34
  • 78.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11956 34
zebrafish
(Danio rerio)
Actinopterygii jag1b 34 35
  • 72.04 (n)
jag1a 35
  • 66 (a)
OneToMany
jag3 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004154 34
  • 49.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ser 36 34 35
  • 46.42 (n)
Dl 36
  • 41 (a)
SP1070 36
  • 37 (a)
CG15388 36
  • 36 (a)
C901 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea W02C12.1 36
  • 36 (a)
apx-1 36
  • 35 (a)
F55H12.3 36
  • 28 (a)
Y69H2.11 36
  • 28 (a)
Y69H2.2 36
  • 27 (a)
Y69H2.12 36
  • 26 (a)
glp-1 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for JAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JAG1 Gene

ENSEMBL:
Gene Tree for JAG1 (if available)
TreeFam:
Gene Tree for JAG1 (if available)

Paralogs for JAG1 Gene

Paralogs for JAG1 Gene

(12) SIMAP similar genes for JAG1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with JAG1: view

Variants for JAG1 Gene

Sequence variations from dbSNP and Humsavar for JAG1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs121918350 Alagille syndrome 1 (ALGS1) [MIM:118450], Pathogenic 10,658,612(-) AGATC(C/T)GCGTG reference, missense
rs121918351 Alagille syndrome 1 (ALGS1) [MIM:118450], Pathogenic 10,658,611(-) GATCC(A/G)CGTGA reference, missense
rs121918352 Alagille syndrome 1 (ALGS1) [MIM:118450], Pathogenic 10,672,978(-) CGAGT(C/T)GGAGA reference, missense
rs145895196 Alagille syndrome 1 (ALGS1) [MIM:118450], other 10,641,566(+) AAGAC(A/C/T)GACAC reference, missense
rs149419694 Alagille syndrome 1 (ALGS1) [MIM:118450], Uncertain significance 10,641,799(+) CGATC(C/T)GTCCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for JAG1 Gene

Variant ID Type Subtype PubMed ID
nsv3291 CNV insertion 18451855
nsv522874 CNV loss 19592680
nsv833920 CNV gain 17160897

Variation tolerance for JAG1 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JAG1 Gene

Human Gene Mutation Database (HGMD)
JAG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAG1 Gene

Disorders for JAG1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for JAG1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alagille syndrome
  • alagille syndrome 1
tetralogy of fallot
  • tetrology of fallot
jag1-related alagille syndrome
  • alagille syndrome 1
cadasil
  • cadasil syndrome
familial deafness
- elite association - COSMIC cancer census association via MalaCards
Search JAG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAG1_HUMAN
  • 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:0000269 PubMed:10220506, ECO:0000269 PubMed:10533065, ECO:0000269 PubMed:11058898, ECO:0000269 PubMed:11139247, ECO:0000269 PubMed:11157803, ECO:0000269 PubMed:11180599, ECO:0000269 PubMed:12442286, ECO:0000269 PubMed:12497640, ECO:0000269 PubMed:15712272, ECO:0000269 PubMed:16575836, ECO:0000269 PubMed:23801938, ECO:0000269 PubMed:9207788, ECO:0000269 PubMed: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:0000269 PubMed:11152664}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for JAG1

Genetic Association Database (GAD)
JAG1
Human Genome Epidemiology (HuGE) Navigator
JAG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAG1
genes like me logo Genes that share disorders with JAG1: view

No data available for Genatlas for JAG1 Gene

Publications for JAG1 Gene

  1. Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. (PMID: 20096396) Kung A.W. … Sham P.C. (Am. J. Hum. Genet. 2010) 3 22 46 64
  2. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. (PMID: 20437614) Bauer R.C. … Spinner N.B. (Hum. Mutat. 2010) 3 22 46 64
  3. Exon 6 of human JAG1 encodes a conserved structural unit. (PMID: 19586525) Pintar A. … Pongor S. (BMC Struct. Biol. 2009) 3 4 22 64
  4. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy. (PMID: 17368936) Ungaro C. … Mazzei R. (Neurosci. Lett. 2007) 3 22 46 64
  5. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. (PMID: 16575836) Warthen D.M. … Spinner N.B. (Hum. Mutat. 2006) 3 4 22 64

Products for JAG1 Gene

Sources for JAG1 Gene

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