Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
182
Gene name Gene Name - the full gene name approved by the HGNC.
Jagged canonical Notch ligand 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JAG1
Synonyms (NCBI Gene) Gene synonyms aliases
AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, HJ1, JAGL1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.2
Summary Summary of gene provided in NCBI Entrez 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 syn
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1131695 G>A,C,T Pathogenic, likely-benign, benign Coding sequence variant, synonymous variant, stop gained
rs28939668 C>T Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs121918350 G>A Pathogenic Coding sequence variant, missense variant
rs121918351 C>T Pathogenic Coding sequence variant, missense variant
rs121918352 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000074 hsa-miR-34a-5p Luciferase reporter assay, qRT-PCR, Western blot 20351093
MIRT005457 hsa-miR-200c-3p Immunohistochemistry, qRT-PCR 21224848
MIRT000176 hsa-miR-21-5p Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 19398721
MIRT000074 hsa-miR-34a-5p Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 19398721
MIRT006291 hsa-miR-34b-3p Luciferase reporter assay, qRT-PCR, Western blot 22113133
Transcription factors
Transcription factor Regulation Reference
KDM4C Activation 23698634
PPARG Unknown 20436223
RUNX3 Repression 21637926
SNAI2 Activation 20509143
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis NAS 8955070
GO:0001709 Process Cell fate determination NAS 9207788
GO:0001953 Process Negative regulation of cell-matrix adhesion IDA 11549580
GO:0001974 Process Blood vessel remodeling IEA
GO:0002011 Process Morphogenesis of an epithelial sheet IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601920 6188 ENSG00000101384
Protein
UniProt ID P78504
Protein name Protein jagged-1 (Jagged1) (hJ1) (CD antigen CD339)
Protein 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
PDB 2KB9 , 2VJ2 , 4CBZ , 4CC0 , 4CC1 , 4XI7 , 5BO1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07657 MNNL 32 107 N terminus of Notch ligand Family
PF01414 DSL 167 229 Delta serrate ligand Domain
PF00008 EGF 300 332 EGF-like domain Domain
PF00008 EGF 340 370 EGF-like domain Domain
PF00008 EGF 378 408 EGF-like domain Domain
PF07645 EGF_CA 412 450 Calcium-binding EGF domain Domain
PF00008 EGF 450 483 EGF-like domain Domain
PF00008 EGF 491 521 EGF-like domain Domain
PF00008 EGF 529 559 EGF-like domain Domain
PF00008 EGF 633 663 EGF-like domain Domain
PF00008 EGF 671 701 EGF-like domain Domain
PF00008 EGF 748 777 EGF-like domain Domain
PF00008 EGF 786 816 EGF-like domain Domain
PF12661 hEGF 829 849 Human growth factor-like EGF Domain
Tissue specificity 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
Sequence
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARN
PGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTF
NLKASRGNDRNRI
VLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFE
YQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPEC
NRAICRQGCSP
KHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYC
GTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPN
CEIAEHACLSDPCHNRGSCKETSLGFEC
ECSPGWTGPT
CSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKP
CVNAKSCKNLIASYYCDCLPGWMGQNCDI
NINDCLGQCQNDASCRDLVNGYRCICPPGYA
GDH
CERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQC
YNRASDYFCKCPEDYEGKN
CSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCG
PHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWE
GAY
CETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTC
YDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICA
QNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEIN
GYRCVCPPG
HSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPR
PCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCAN
ITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAED
IRDDGNPIKEITDKIIDLVSKRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVA
WICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNPIEKHGANTVPIKDYE
NKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
DNRDLESAQSLNRMEYIV
Sequence length 1218
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocrine resistance
Notch signaling pathway
Apelin signaling pathway
Th1 and Th2 cell differentiation
TNF signaling pathway
Human papillomavirus infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX3 regulates NOTCH signaling
NOTCH3 Activation and Transmission of Signal to the Nucleus
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Alagille Syndrome alagille syndrome due to a jag1 point mutation rs863223649, rs2067347395, rs876660979, rs886039724, rs1568791920, rs727504412, rs1600196443, rs1060501347, rs1437309558, rs863223648, rs2067393679, rs1600178720, rs886039887, rs876660978, rs1600196580
View all (65 more)
N/A
arteriohepatic dysplasia Arteriohepatic dysplasia rs1555827650, rs727504412, rs1568791694, rs121918352 N/A
Deafness, Congenital Heart Defects, And Posterior Embryotoxon deafness, congenital heart defects, and posterior embryotoxon rs121918353 N/A
Tetralogy of Fallot tetralogy of fallot rs727504412, rs876660981, rs28939668, rs886044220 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease, axonal, Type 2HH N/A N/A GenCC
Congenital Heart Disease Isolated Nonsyndromic Congenital Heart Disease N/A N/A ClinVar
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 21305538
Adenocarcinoma Associate 23423517, 26926447, 34818353
Adenocarcinoma of Lung Associate 27196489
Adenoma Associate 29286145
Adrenocortical Carcinoma Associate 22427350
Aicardi Goutieres syndrome Associate 10827106, 12624136, 35551623
Aicardi Syndrome Associate 22427350
Aicardi Syndrome Stimulate 22427350
Airway Obstruction Associate 37511516
Alagille Syndrome Associate 10978356, 12649809, 14684686, 15190647, 16773578, 17241866, 19058200, 19948535, 21671386, 22105858, 22336710, 22487239, 22488849, 24748328, 24825276
View all (36 more)