• Gene id: 182

Gene Summary

• Gene Symbol: JAG1   Gene   UCSC   Ensembl
• Aliases: AGS, AGS1, AHD, AWS, CD339, DCHE, HJ1, JAGL1
• Gene name: jagged canonical Notch ligand 1
• Alternate names: protein jagged-1,
• Gene location: 20p12.2 (10673998: 10637683)     Exons: 26     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 188345

Protein Summary

• Protein general information: P78504  
  • Name: Protein jagged 1 (Jagged1) (hJ1) (CD antigen CD339)
  • Length: 1218  
  • Mass: 133799
  • 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:

  MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYF
  KVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDS
  IIEKASHSGMINPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWM
  GPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYC
  GTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNI
  DDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDIN
  INDCLGQCQNDASCRDLVNGYRCICPPGYAGDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLD
  IDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCG
  PHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNP
  CHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIARNSSCLP
  NPCHNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQ
  SSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPR
  PCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCANITFTFNKEMMSPGLT
  TEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVSKRDGNSSLIA
  AVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNP
  IEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
  DNRDLESAQSLNRMEYIV

• Structural information:
  • Protein Domains: (185..22-)
    (/note="DSL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00377-)
    (230..26-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (264..29-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR001774  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR009030  IPR026219  IPR011651  IPR001007  
  • Prosite: PS00010 PS51051 PS00022 PS01186 PS50026 PS01187
  • PDB: 2KB9 2VJ2 4CBZ 4CC0 4CC1 4XI7 5BO1
  • PDBsum: 2KB9 2VJ2 4CBZ 4CC0 4CC1 4XI7 5BO1
  • DIP: 46371
  • STRING: ENSP00000254958
• Other Databases: GeneCards:  JAG1  Malacards:  JAG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005112	Notch binding	IBA	molecular function
GO:0045746	negative regulation of Notch signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0072015	glomerular visceral epithelial cell development	ISS	biological process
GO:0005912	adherens junction	ISS	cellular component
GO:0005112	Notch binding	IPI	molecular function
GO:0045747	positive regulation of Notch signaling pathway	ISS	biological process
GO:0072006	nephron development	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0005112	Notch binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007154	cell communication	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072015	glomerular visceral epithelial cell development	IEA	biological process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	IEA	biological process
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045639	positive regulation of myeloid cell differentiation	IEA	biological process
GO:0045602	negative regulation of endothelial cell differentiation	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0043010	camera-type eye development	IEA	biological process
GO:0042491	inner ear auditory receptor cell differentiation	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0005112	Notch binding	IEA	molecular function
GO:0002011	morphogenesis of an epithelial sheet	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0072070	loop of Henle development	IEA	biological process
GO:0072017	distal tubule development	IEA	biological process
GO:0072006	nephron development	IEA	biological process
GO:0061444	endocardial cushion cell development	IEA	biological process
GO:0061314	Notch signaling involved in heart development	IEA	biological process
GO:0061073	ciliary body morphogenesis	IEA	biological process
GO:0060411	cardiac septum morphogenesis	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0032495	response to muramyl dipeptide	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0007219	Notch signaling pathway	ISS	biological process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	ISS	biological process
GO:0062043	positive regulation of cardiac epithelial to mesenchymal transition	ISS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0061314	Notch signaling involved in heart development	IC	biological process
GO:0003184	pulmonary valve morphogenesis	IMP	biological process
GO:0003184	pulmonary valve morphogenesis	IMP	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0035909	aorta morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0060411	cardiac septum morphogenesis	ISS	biological process
GO:0061156	pulmonary artery morphogenesis	IMP	biological process
GO:0061314	Notch signaling involved in heart development	IMP	biological process
GO:0061444	endocardial cushion cell development	ISS	biological process
GO:0003180	aortic valve morphogenesis	NAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IMP	colocalizes with
GO:0005543	phospholipid binding	IMP	molecular function
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IDA	biological process
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:0045446	endothelial cell differentiation	NAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0045445	myoblast differentiation	NAS	biological process
GO:0042127	regulation of cell population proliferation	NAS	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0005112	Notch binding	NAS	molecular function
GO:0001525	angiogenesis	NAS	biological process
GO:2000737	negative regulation of stem cell differentiation	IMP	biological process
GO:0007219	Notch signaling pathway	IMP	biological process
GO:0007219	Notch signaling pathway	NAS	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0001709	cell fate determination	NAS	biological process
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0097150	neuronal stem cell population maintenance	IEP	biological process
GO:0030216	keratinocyte differentiation	NAS	biological process
GO:0030097	hemopoiesis	NAS	biological process
GO:0008083	growth factor activity	NAS	molecular function
GO:0007399	nervous system development	NAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa04371	Apelin signaling pathway
hsa05224	Breast cancer
hsa04668	TNF signaling pathway
hsa04658	Th1 and Th2 cell differentiation
hsa01522	Endocrine resistance
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Tetralogy of Fallot	KEGG:H00549
Alagille syndrome	KEGG:H00551
Tetralogy of Fallot	KEGG:H00549
Alagille syndrome	KEGG:H00551
Temporal arteritis	PMID:21220737
Congenital heart disease	PMID:12022040
Multiple sclerosis	PMID:20805994
Multiple sclerosis	PMID:16934875
Tetralogy of Fallot	PMID:11152664
hepatocellular carcinoma	PMID:30660174
Osteoarthritis	PMID:18354251
Alagille syndrome	PMID:21714972
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq