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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
External Ids for JAG1 Gene
- HGNC: 6188
- Entrez Gene: 182
- Ensembl: ENSG00000101384
- OMIM: 601920
- UniProtKB: P78504
Previous HGNC Symbols for JAG1 Gene
- AGS
- JAGL1
Previous GeneCards Identifiers for JAG1 Gene
- GC20M010606
- GC20M010613
- GC20M010566
- GC20M010618
- GC20M010569
Summaries 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).
Additional gene information for JAG1 Gene
- HGNC(6188)
- Entrez Gene(182)
- Ensembl(ENSG00000101384)
- OMIM(601920)
- UniProtKB(P78504)
- Open Targets Platform(ENSG00000101384)
- Monarch Initiative
- Search for JAG1 at DataMed
- Search for JAG1 at HumanCyc
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
- 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:
-
- 20p12.2 by HGNC
- 20p12.2 by Entrez Gene
- 20p12.2 by Ensembl
JAG1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for JAG1 Gene
Post-translational modifications for JAG1 Gene
Other Protein References for JAG1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ JAG1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for JAG1
- Novus Biologicals Antibodies for JAG1
-
Abcam antibodies for JAG1
- Invitrogen Antibodies for JAG1 (AFLGC-JAG1)
- antibodies-online: Show 49 available JAG1 Antibodies ranked by validation data
- Compare Top JAG1 Antibodies
-
Recommended
- 98 WB Antibodies (anti-human)
- 26 FACS Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 Neut Antibody (anti-human)
- 26 WB Antibodies (anti-mouse)
- 17 FACS Antibodies (anti-mouse)
- 6 IHC Antibodies (anti-mouse)
- 1 IHC (fro) Antibody (anti-mouse)
- 17 WB Antibodies (anti-rat)
- 13 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 IHC (fro) Antibody (anti-rat)
-
Boster Bio Antibodies for JAG1
-
Custom Antibody ServicesProSci Antibodies for JAG1
-
Santa Cruz Biotechnology (SCBT) Antibodies for JAG1
- Sino Biological Antibodies for JAG1
Protein Products
- G Biosciences Human Jagged-1/JAG1, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for JAG1
- Origene Custom Protein Services for JAG1
- Sino Biological Recombinant Proteins for JAG1
- Sino Biological Cell Lysates for JAG1
-
ProSci Proteins for JAG1
-
Abcam proteins for JAG1
Assay Products
- G Biosciences Immunotag™ Protein jagged-1 ELISA Kit
- RayBiotech Human Jagged 1 ELISA
- antibodies-online: Show 28 available JAG1 Elisa Kits ranked by validation data
- Compare Top JAG1 Elisa Kits
-
Quality Products:
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- Domain:
-
- The second EGF-like domain is atypical.
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
- Kidney
- Liver
It affects the following cells:
- Liver
Phenotypes From GWAS Catalog 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 |
Phenotypes for JAG1 Gene
- MGI mutant phenotypes for JAG1:
-
inferred from 16 alleles
- nervous system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for JAG1:
Animal Models for JAG1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for JAG1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for JAG1 - Select products 50% OFF >
- * JAG1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JAG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for JAG1
miRNA for JAG1 Gene
- miRTarBase miRNAs that target JAG1
-
- hsa-miR-34a-5p (MIRT000074)
- hsa-miR-21-5p (MIRT000176)
- mmu-miR-124-3p (MIRT005079)
- hsa-miR-200c-3p (MIRT005457)
- mmu-miR-16-5p (MIRT005925)
- hsa-miR-34b-3p (MIRT006291)
- hsa-miR-143-3p (MIRT006846)
- hsa-miR-145-5p (MIRT006847)
- hsa-miR-524-5p (MIRT006891)
- mmu-miR-34b-5p (MIRT012802)
- mmu-miR-181a-5p (MIRT014160)
- hsa-miR-375 (MIRT019703)
- hsa-miR-98-5p (MIRT027545)
- hsa-let-7b-5p (MIRT051999)
- hsa-miR-199b-5p (MIRT053254)
- hsa-miR-124-3p (MIRT053288)
- hsa-miR-214-3p (MIRT053289)
- rno-miR-652-3p (MIRT438411)
- hsa-miR-199a-5p (MIRT438596)
- hsa-miR-1305 (MIRT442770)
- hsa-miR-607 (MIRT442771)
- hsa-miR-192-3p (MIRT442772)
- hsa-miR-4480 (MIRT442773)
- hsa-miR-4698 (MIRT442774)
- hsa-miR-8063 (MIRT442775)
- hsa-miR-5003-3p (MIRT442776)
- hsa-miR-4282 (MIRT442777)
- hsa-miR-137 (MIRT442778)
- hsa-miR-3613-3p (MIRT719747)
- hsa-miR-26a-5p (MIRT732280)
- mmu-miR-199b-3p (MIRT732509)
- hsa-miR-410-3p (MIRT732781)
- bta-miR-199a-5p (MIRT733510)
- hsa-miR-26b-5p (MIRT734232)
- mmu-miR-34c-5p (MIRT735353)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JAG1
- Browse OriGene Inhibitory RNA Products For JAG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAG1
Clone Products
- Applied Biological Materials (abm): Clones for JAG1 - Select products 50% OFF >
- * JAG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for JAG1
- Addgene plasmids for JAG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JAG1
Cell Line Products
- ESI BIO PureStem ES-209, Meso-prx/latp Progenitor for JAG1
-
Horizon Cell Lines 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.
| 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 |
- Golgi apparatus (2)
- Plasma membrane (2)
| 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 |
Pathways & Interactions for JAG1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 3 | Notch Signaling Pathway (WikiPathways) | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Development Notch Signaling Pathway
.55
|
Development NOTCH1-mediated pathway for NF-KB activity modulation
.55
|
Pathways by source for JAG1 Gene
1 Sino Biological pathway for JAG1 Gene
7 BioSystems pathways for JAG1 Gene
19 Reactome pathways for JAG1 Gene
8 KEGG pathways for JAG1 Gene
2 GeneGo (Thomson Reuters) pathways for JAG1 Gene
- Development Notch Signaling Pathway
- Development NOTCH1-mediated pathway for NF-KB activity modulation
2 R&D Systems pathways for JAG1 Gene
2 Cell Signaling Technology pathways for JAG1 Gene
Interacting Proteins for JAG1 Gene
Selected Interacting proteins:
P78504-JAG1_HUMAN
ENSP00000254958
for JAG1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for JAG1
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for JAG1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
Drug Products
- G Biosciences Human Jagged-1/JAG1, Lyophilized
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 :
-
- ENST00000254958 5940 nts (view in UCSC)
- ENST00000423891 3758 nts (view in UCSC)
- ENST00000488480 1161 nts (view in UCSC)
- ENST00000612857 586 nts (view in UCSC)
- ENST00000613518 597 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for JAG1 - Select products 50% OFF >
- * JAG1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JAG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for JAG1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JAG1
- Browse OriGene Inhibitory RNA Products For JAG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAG1
Clone Products
- Applied Biological Materials (abm): Clones for JAG1 - Select products 50% OFF >
- * JAG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for JAG1
- Addgene plasmids for JAG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JAG1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Primitive Streak (Early Embryonic Tissues)
- Notochord Cells Notochord
-
Cartilage (Muscoskeletal System)
- Notochord Cells Notochord
mRNA differential expression in normal tissues according to GTEx for JAG1 Gene
This gene is overexpressed in Artery - Tibial (x5.1).
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.626544mRNA 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
Primer Products
-
OriGene qPCR primer pairs for JAG1
-
OriGene qPCR primer pairs and template standards for JAG1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | JAG1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | JAG1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | JAG1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Jag1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Jag1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | JAG1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | JAG1 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | JAG1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | JAG1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | jag1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11956 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | jag1b 30 31 |
|
OneToMany | |
| jag1a 31 |
|
OneToMany | |||
| jag3 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004154 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ser 30 31 32 |
|
OneToMany | |
| Dl 32 |
|
|
|||
| SP1070 32 |
|
|
|||
| CG15388 32 |
|
|
|||
| C901 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | W02C12.1 32 |
|
|
|
| apx-1 32 |
|
|
|||
| F55H12.3 32 |
|
|
|||
| Y69H2.11 32 |
|
|
|||
| Y69H2.2 32 |
|
|
|||
| Y69H2.12 32 |
|
|
|||
| glp-1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(12) SIMAP similar genes for JAG1 Gene using alignment to 6 proteins:
- JAG1_HUMAN
- B4DYR1_HUMAN
- B5M914_HUMAN
- B7U6M8_HUMAN
- B7U6M9_HUMAN
- Q4KMR2_HUMAN
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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAG1 Gene
Disorders for JAG1 Gene
(56) MalaCards diseases for JAG1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alagille syndrome 1 |
|
|
| deafness, congenital heart defects, and posterior embryotoxon |
|
|
| tetralogy of fallot |
|
|
| atypical coarctation of aorta |
|
|
| rare congenital non-syndromic heart malformation |
|
|
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
No data available for Genatlas for JAG1 Gene
Publications for JAG1 Gene
- 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
- 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
- Exon 6 of human JAG1 encodes a conserved structural unit. (PMID: 19586525) Pintar A … Pongor S (BMC structural biology 2009) 3 4 23
- 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
- Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. (PMID: 16575836) Warthen DM … Spinner NB (Human mutation 2006) 3 4 23
ExternalLinks
Products for JAG1 Gene
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Sources for JAG1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
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- (19) KEGG
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- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
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- (48) IMGT
- (49) Leiden
- (50) miRBase
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- (53) PubMed
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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