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Aliases for JAG1 Gene

Aliases for JAG1 Gene

  • Jagged 1 2 3
  • JAGL1 3 4
  • HJ1 3 4
  • AHD 3 6
  • AGS 3 6
  • Alagille Syndrome 2
  • Protein Jagged-1 3
  • CD339 Antigen 4
  • Jagged1 4
  • CD339 3
  • AWS 3

External Ids for JAG1 Gene

Previous Symbols for JAG1 Gene

  • AGS
  • JAGL1

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 jag1-related alagille syndrome. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is NOTCH2.

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

Genomic Location for JAG1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for JAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAG1 Gene

Regulatory Elements 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

Proteomics data for JAG1 Gene at MOPED

Post-translational modifications for JAG1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1123
  • Glycosylation at Asn143, Asn217, Asn382, Asn559, Asn745, Asn960, Asn991, Asn1045, and Asn1064

Other Protein References for JAG1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for JAG1 Gene

Domains for JAG1 Gene

Gene Families for JAG1 Gene

HGNC:
  • CD :CD molecules

Graphical View of Domain Structure for InterPro Entry

P78504

UniProtKB/Swiss-Prot:

JAG1_HUMAN
Domain:
  • The second EGF-like domain is atypical.:
    • P78504
  • Contains 1 DSL domain.:
    • P78504
  • Contains 16 EGF-like domains.:
    • P78504
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

Animal Models for JAG1 Gene

MGI Knock Outs for JAG1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 2
endoplasmic reticulum 1
golgi apparatus 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:0016020 membrane TAS 9268641
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with JAG1: view

Pathways for JAG1 Gene

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

Pathways by source for JAG1 Gene

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

Compounds for JAG1 Gene

(1) Novoseek inferred chemical compound relationships for JAG1 Gene

Compound -log(P) Hits PubMed IDs
nitric oxide 0 1
genes like me logo Genes that share compounds with JAG1: view

Transcripts for JAG1 Gene

Unigene Clusters for JAG1 Gene

Jagged 1:
Representative Sequences:

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 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 (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for JAG1 Gene

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 expressions with JAG1: view

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 35
  • 99.34 (n)
  • 99.67 (a)
JAG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JAG1 35
  • 89.76 (n)
  • 95.81 (a)
JAG1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAG1 35
  • 91.82 (n)
  • 97.45 (a)
JAG1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jag1 35
  • 90.2 (n)
  • 96.55 (a)
Jag1 16
Jag1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JAG1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAG1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jag1 35
  • 90.5 (n)
  • 96.47 (a)
chicken
(Gallus gallus)
Aves JAG1 35
  • 80.54 (n)
  • 87.84 (a)
JAG1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JAG1 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11956 35
tropical clawed frog
(Silurana tropicalis)
Amphibia jag1 35
  • 78.14 (n)
  • 85.14 (a)
zebrafish
(Danio rerio)
Actinopterygii jag1a 36
  • 66 (a)
OneToMany
jag1b 35
  • 72.04 (n)
  • 75.53 (a)
jag1b 36
  • 74 (a)
OneToMany
jag3 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004154 35
  • 49.8 (n)
  • 42.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ser 35
  • 46.42 (n)
  • 36.26 (a)
Ser 36
  • 32 (a)
OneToMany
Dl 37
  • 41 (a)
SP1070 37
  • 37 (a)
C901 37
  • 34 (a)
CG15388 37
  • 36 (a)
Ser 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea glp-1 36
  • 17 (a)
ManyToMany
Y69H2.2 37
  • 27 (a)
apx-1 37
  • 35 (a)
Y69H2.11 37
  • 28 (a)
W02C12.1 37
  • 36 (a)
F55H12.3 37
  • 28 (a)
Y69H2.12 37
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for JAG1:
  • 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

Selected 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 MAF
rs7828 -- 10,638,366(-) AATCT(G/T)ACTTT utr-variant-3-prime
rs8708 -- 10,637,926(-) TTGCC(A/G)TGTGC utr-variant-3-prime
rs730152 -- 10,648,045(-) GCCAG(G/T)GACTA missense, reference
rs889509 -- 10,643,542(+) CTGTG(A/G)CTGGC intron-variant
rs910118 -- 10,675,439(-) GGTCA(G/T)TTAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv522874 CNV Loss 19592680
nsv833920 CNV Gain 17160897
nsv3291 CNV Insertion 18451855

Relevant External Links for JAG1 Gene

HapMap Linkage Disequilibrium report
JAG1
Human Gene Mutation Database (HGMD)
JAG1
Locus Specific Mutation Databases (LSDB)
JAG1

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

Disorders for JAG1 Gene

(2) OMIM Diseases for JAG1 Gene (601920)

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.

(29) Novoseek inferred disease relationships for JAG1 Gene

Disease -log(P) Hits PubMed IDs
alagille syndrome 98 121
pfic3 76 1
byler disease 69 1
developmental disabilities 62.8 3
pulmonary valve stenosis 61.6 5

Relevant External Links for JAG1

GeneTests
JAG1
GeneReviews
JAG1
Genetic Association Database (GAD)
JAG1
Human Genome Epidemiology (HuGE) Navigator
JAG1
genes like me logo Genes that share disorders with JAG1: view

Publications for JAG1 Gene

  1. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. (PMID: 9207788) Li L. … Spinner N.B. (Nat. Genet. 1997) 2 3 4 23
  2. Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (PMID: 9268641) Oda T. … Chandrasekharappa S.C. (Genomics 1997) 3 4 23
  3. Jagged-1 mutation analysis in Italian Alagille syndrome patients. (PMID: 10533065) Pilia G. … DeVirgilis S. (Hum. Mutat. 1999) 3 4 23
  4. Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (PMID: 9585603) Krantz I.D. … Spinner N.B. (Am. J. Hum. Genet. 1998) 3 4 23
  5. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. (PMID: 10220506) Crosnier C. … Meunier-Rotival M. (Gastroenterology 1999) 3 4 23

Products for JAG1 Gene

  • Addgene plasmids for JAG1

Sources for JAG1 Gene

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