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... See more...

Aliases for JAG1 Gene

Aliases for JAG1 Gene

  • Jagged Canonical Notch Ligand 1 2 3 5
  • HJ1 2 3 4
  • Protein Jagged-1 3 4
  • CD339 2 3
  • JAGL1 3 4
  • AHD 2 3
  • AWS 2 3
  • Alagille Syndrome 2
  • CD339 Antigen 4
  • Jagged 1 2
  • Jagged1 4
  • AGS1 3
  • DCHE 3
  • JAG1 5
  • 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 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]

GeneCards Summary for JAG1 Gene

JAG1 (Jagged Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with JAG1 include Alagille Syndrome 1 and Deafness, Congenital Heart Defects, And Posterior Embryotoxon. Among its related pathways are Signaling by GPCR and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (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 Summary for JAG1 Gene

  • Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JAG1 Gene

Genomics for JAG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for JAG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J010663 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 607.8 +4.3 4342 12.7 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 TFE3 SOX13 NFKBIZ POLR2A JAG1 LINC02871 ENSG00000270792 lnc-MKKS-12 lnc-SLX4IP-1 lnc-SLX4IP-3 SLX4IP
GH20J010552 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +119.2 119198 12 SP1 CREB1 GATAD2A CTCF TFE3 RCOR2 BACH1 STAT3 ZNF143 RELA MKKS JAG1 SLX4IP SNAP25 RF00017-3521 piR-35674-301
GH20J010589 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +79.0 78998 10.4 GATAD2A TFE3 SOX13 RCOR2 ZNF7 ZIC2 PKNOX1 RXRB NR2C1 REST JAG1 RF00017-3521 LOC100421490 SLX4IP
GH20J010564 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 +108.4 108443 3.9 GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 RBFOX2 RXRB IRF2 BRD4 JAG1 RF00017-3521 piR-35674-301 SLX4IP
GH20J010507 Enhancer 1.3 FANTOM5 ENCODE 10.4 +163.7 163702 4.6 SP1 CREB1 GATAD2A ZNF629 TFE3 LEF1 NFKBIZ ZNF692 RCOR2 POLR2A JAG1 piR-35674-301 SLX4IP RF00017-3521
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAG1

Top Transcription factor binding sites by QIAGEN in the JAG1 gene promoter:
  • AREB6
  • CUTL1
  • FOXL1
  • Gfi-1
  • HNF-3beta
  • HTF
  • NF-1
  • p53
  • SEF-1 (1)
  • STAT5A

Genomic Locations for JAG1 Gene

Genomic Locations for JAG1 Gene
chr20:10,637,684-10,673,999
(GRCh38/hg38)
Size:
36,316 bases
Orientation:
Minus strand
chr20:10,618,332-10,654,694
(GRCh37/hg19)
Size:
36,363 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) (PubMed:18660822).
    SequenceCaution:
    • Sequence=AAC51323.1; Type=Frameshift; 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

  • Glycosylation at Asn217, Asn143, Asn382, Asn559, Asn585, Asn745, Asn960, Asn991, Asn1045, and Asn1064
  • Ubiquitination at Lys1123
  • Modification sites at PhosphoSitePlus

Other Protein References for JAG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JAG1 Gene

Domains & Families for JAG1 Gene

Gene Families for JAG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for JAG1 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • Type II EGF-like signature
  • Delta/Serrate/lag-2 (DSL) protein
  • EGF-like calcium-binding
  • Notch ligand, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for JAG1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51576, highly similar to Jagged-1 (B4DYR1_HUMAN)
  • Jagged 1 (B5M914_HUMAN)
  • Jagged 1 (B7U6M8_HUMAN)
  • Jagged 1 (B7U6M9_HUMAN)
  • Protein jagged-1 (JAG1_HUMAN)

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.
genes like me logo Genes that share domains with JAG1: view

Function for JAG1 Gene

Molecular function for JAG1 Gene

UniProtKB/Swiss-Prot Function:
Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). 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).
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

LifeMap Function Summary for JAG1 Gene

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

Phenotypes From GWAS Catalog for JAG1 Gene

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 18660822
GO:0005543 phospholipid binding IMP 22465068
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:
  • Jag1 Jag1<tm1.1Vtlr>
  • Jag1 Jag1<tm1Grid>
  • Jag1 Jag1<tm2.1Grid>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAG1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAG1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
golgi apparatus 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

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 IEA,TAS --
GO:0005887 integral component of plasma membrane NAS 11427524
GO:0005912 adherens junction IEA,ISS --
GO:0016020 membrane IMP,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:0001953 negative regulation of cell-matrix adhesion IDA 11549580
GO:0001974 blood vessel remodeling IEA --
GO:0002011 morphogenesis of an epithelial sheet IEA --
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

mRNA/cDNA for JAG1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAG1

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

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, MaxQB, and MOPED for JAG1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for JAG1 Gene

  • Nervous system(4.8)
  • Heart(4.7)
  • Bone marrow(4.6)
  • Lung(4)
  • Muscle(3.5)
  • Kidney(3.3)
  • Skin(3.3)
  • Intestine(3.1)
  • Liver(3.1)
  • Spleen(3)
  • Eye(2.9)
  • Blood(2.7)
  • Lymph node(2.6)
  • Bone(2.5)
  • Stomach(2.5)
  • Pancreas(2.5)
  • Gall bladder(2.4)
  • Thyroid gland(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JAG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
  • tooth
Thorax:
  • aorta
  • breast
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • anus
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with JAG1: view

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 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia JAG1 30 31
  • 91.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia JAG1 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Jag1 30
  • 90.5 (n)
Mouse
(Mus musculus)
Mammalia Jag1 30 17 31
  • 90.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia JAG1 31
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia JAG1 30 31
  • 89.76 (n)
OneToOne
Chicken
(Gallus gallus)
Aves JAG1 30 31
  • 80.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia JAG1 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia jag1 30
  • 78.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11956 30
Zebrafish
(Danio rerio)
Actinopterygii jag1b 30 31
  • 72.04 (n)
OneToMany
jag1a 31
  • 66 (a)
OneToMany
jag3 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004154 30
  • 49.8 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ser 30 31 32
  • 46.42 (n)
OneToMany
Dl 32
  • 41 (a)
SP1070 32
  • 37 (a)
CG15388 32
  • 36 (a)
C901 32
  • 34 (a)
Worm
(Caenorhabditis elegans)
Secernentea W02C12.1 32
  • 36 (a)
apx-1 32
  • 35 (a)
F55H12.3 32
  • 28 (a)
Y69H2.11 32
  • 28 (a)
Y69H2.2 32
  • 27 (a)
Y69H2.12 32
  • 26 (a)
glp-1 31
  • 17 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for JAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for JAG1: view image

Paralogs for JAG1 Gene

Paralogs for JAG1 Gene

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

  • JAG1_HUMAN
  • B4DYR1_HUMAN
  • B5M914_HUMAN
  • B7U6M8_HUMAN
  • B7U6M9_HUMAN
  • Q4KMR2_HUMAN
genes like me logo Genes that share paralogs with JAG1: view

Variants for JAG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAG1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
213539 Likely Pathogenic: Midaortic syndrome 10,641,678(-) G/A NONSENSE
290387 Pathogenic: not provided 10,642,508(-) CTGTGCCCTGGAGGGC FRAMESHIFT_VARIANT
639743 Pathogenic: Alagille syndrome 1 10,651,644(-) C/A NONSENSE
640223 Pathogenic: Alagille syndrome 1 10,672,946(-) C/A NONSENSE
645280 Pathogenic: Alagille syndrome 1 10,641,148(-) A/AAGGCT FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for JAG1 Gene

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)

Additional Variant Information for JAG1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for JAG1 Gene

MalaCards: The human disease database

(56) MalaCards diseases for JAG1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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:20437614, 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, ECO:0000269 PubMed:20437614}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. {ECO:0000269 PubMed:12022040, ECO:0000269 PubMed:20437614}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for JAG1

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

No data available for Genatlas for JAG1 Gene

Publications for JAG1 Gene

  1. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. (PMID: 20437614) Bauer RC … Spinner NB (Human mutation 2010) 3 4 23 41
  2. Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. (PMID: 20096396) Kung AW … Sham PC (American journal of human genetics 2010) 3 23 41
  3. Exon 6 of human JAG1 encodes a conserved structural unit. (PMID: 19586525) Pintar A … Pongor S (BMC structural biology 2009) 3 4 23
  4. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy. (PMID: 17368936) Ungaro C … Mazzei R (Neuroscience letters 2007) 3 23 41
  5. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. (PMID: 16575836) Warthen DM … Spinner NB (Human mutation 2006) 3 4 23

Products for JAG1 Gene

  • Addgene plasmids for JAG1

Sources for JAG1 Gene