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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]
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.
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 |
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 |
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 |
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5 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Development Notch Signaling Pathway
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Development NOTCH1-mediated pathway for NF-KB activity modulation
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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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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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: |
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 |
|
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004154 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ser 30 31 32 |
|
OneToMany | |
Dl 32 |
|
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SP1070 32 |
|
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CG15388 32 |
|
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C901 32 |
|
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Worm (Caenorhabditis elegans) |
Secernentea | W02C12.1 32 |
|
|
|
apx-1 32 |
|
|
|||
F55H12.3 32 |
|
|
|||
Y69H2.11 32 |
|
|
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Y69H2.2 32 |
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Y69H2.12 32 |
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glp-1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alagille syndrome 1 |
|
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deafness, congenital heart defects, and posterior embryotoxon |
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tetralogy of fallot |
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atypical coarctation of aorta |
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rare congenital non-syndromic heart malformation |
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