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Jagged 1 (Alagille syndrome)
Identifiers
Symbols JAG1; AGS; AHD; AWS; CD339; HJ1; JAGL1; MGC104644
External IDs OMIM601920 MGI1095416 HomoloGene180 GeneCards: JAG1 Gene
RNA expression pattern
PBB GE JAG1 216268 s at tn.png
PBB GE JAG1 209097 s at tn.png
PBB GE JAG1 209098 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 182 16449
Ensembl ENSG00000101384 ENSMUSG00000027276
UniProt P78504 Q3TS72
RefSeq (mRNA) NM_000214 XM_990538
RefSeq (protein) NP_000205 XP_995632
Location (UCSC) Chr 20:
10.57 - 10.6 Mb
Chr 2:
136.77 - 136.81 Mb
PubMed search [1] [2]

JAG1 is a protein associated with Alagille syndrome. JAG1 has also been designated as CD339 (cluster of differentiation 339).

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 a human homolog of the Drosophilia jagged receptor notch. 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.[1]

Contents

Interactions

JAG1 has been shown to interact with NOTCH2.[2][3][4]

See also

References

  1. ^ "Entrez Gene: JAG1 jagged 1 (Alagille syndrome)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=182.  
  2. ^ Shimizu, K; Chiba S, Saito T, Kumano K, Takahashi T, Hirai H (Jul. 2001). "Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation". J. Biol. Chem. (United States) 276 (28): 25753–8. doi:10.1074/jbc.M103473200. ISSN 0021-9258. PMID 11346656.  
  3. ^ Shimizu, K; Chiba S, Kumano K, Hosoya N, Takahashi T, Kanda Y, Hamada Y, Yazaki Y, Hirai H (Nov. 1999). "Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods". J. Biol. Chem. (UNITED STATES) 274 (46): 32961–9. ISSN 0021-9258. PMID 10551863.  
  4. ^ Shimizu, K; Chiba S, Hosoya N, Kumano K, Saito T, Kurokawa M, Kanda Y, Hamada Y, Hirai H (Sep. 2000). "Binding of Delta1, Jagged1, and Jagged2 to Notch2 rapidly induces cleavage, nuclear translocation, and hyperphosphorylation of Notch2". Mol. Cell. Biol. (UNITED STATES) 20 (18): 6913–22. ISSN 0270-7306. PMID 10958687.  

Further reading

  • Piccoli DA, Spinner NB (2002). "Alagille syndrome and the Jagged1 gene.". Semin. Liver Dis. 21 (4): 525–34. doi:10.1055/s-2001-19036. PMID 11745040.  
  • Lindsell CE, Shawber CJ, Boulter J, Weinmaster G (1995). "Jagged: a mammalian ligand that activates Notch1.". Cell 80 (6): 909–17. doi:10.1016/0092-8674(95)90294-5. PMID 7697721.  
  • Lindsell CE, Boulter J, diSibio G, et al. (1997). "Expression patterns of Jagged, Delta1, Notch1, Notch2, and Notch3 genes identify ligand-receptor pairs that may function in neural development.". Mol. Cell. Neurosci. 8 (1): 14–27. doi:10.1006/mcne.1996.0040. PMID 8923452.  
  • Zimrin AB, Pepper MS, McMahon GA, et al. (1997). "An antisense oligonucleotide to the notch ligand jagged enhances fibroblast growth factor-induced angiogenesis in vitro.". J. Biol. Chem. 271 (51): 32499–502. doi:10.1074/jbc.271.51.32499. PMID 8955070.  
  • Oda T, Elkahloun AG, Pike BL, et al. (1997). "Mutations in the human Jagged1 gene are responsible for Alagille syndrome.". Nat. Genet. 16 (3): 235–42. doi:10.1038/ng0797-235. PMID 9207787.  
  • Li L, Krantz ID, Deng Y, et al. (1997). "Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.". Nat. Genet. 16 (3): 243–51. doi:10.1038/ng0797-243. PMID 9207788.  
  • Oda T, Elkahloun AG, Meltzer PS, Chandrasekharappa SC (1997). "Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12.". Genomics 43 (3): 376–9. doi:10.1006/geno.1997.4820. PMID 9268641.  
  • Li L, Milner LA, Deng Y, et al. (1998). "The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1.". Immunity 8 (1): 43–55. doi:10.1016/S1074-7613(00)80457-4. PMID 9462510.  
  • Krantz ID, Colliton RP, Genin A, et al. (1998). "Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.". Am. J. Hum. Genet. 62 (6): 1361–9. doi:10.1086/301875. PMID 9585603.  
  • Hock B, Böhme B, Karn T, et al. (1998). "PDZ-domain-mediated interaction of the Eph-related receptor tyrosine kinase EphB3 and the ras-binding protein AF6 depends on the kinase activity of the receptor.". Proc. Natl. Acad. Sci. U.S.A. 95 (17): 9779–84. doi:10.1073/pnas.95.17.9779. PMID 9707552.  
  • Gray GE, Mann RS, Mitsiadis E, et al. (1999). "Human ligands of the Notch receptor.". Am. J. Pathol. 154 (3): 785–94. PMID 10079256.  
  • Crosnier C, Driancourt C, Raynaud N, et al. (1999). "Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.". Gastroenterology 116 (5): 1141–8. doi:10.1016/S0016-5085(99)70017-X. PMID 10220506.  
  • Bash J, Zong WX, Banga S, et al. (1999). "Rel/NF-kappaB can trigger the Notch signaling pathway by inducing the expression of Jagged1, a ligand for Notch receptors.". Embo J. 18 (10): 2803–11. doi:10.1093/emboj/18.10.2803. PMID 10329626.  
  • Pilia G, Uda M, Macis D, et al. (2000). "Jagged-1 mutation analysis in Italian Alagille syndrome patients.". Hum. Mutat. 14 (5): 394–400. doi:10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1. PMID 10533065.  
  • Shimizu K, Chiba S, Kumano K, et al. (2000). "Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods.". J. Biol. Chem. 274 (46): 32961–9. doi:10.1074/jbc.274.46.32961. PMID 10551863.  
  • Wong MK, Prudovsky I, Vary C, et al. (2000). "A non-transmembrane form of Jagged-1 regulates the formation of matrix-dependent chord-like structures.". Biochem. Biophys. Res. Commun. 268 (3): 853–9. doi:10.1006/bbrc.2000.2173. PMID 10679295.  
  • Shimizu K, Chiba S, Hosoya N, et al. (2000). "Binding of Delta1, Jagged1, and Jagged2 to Notch2 rapidly induces cleavage, nuclear translocation, and hyperphosphorylation of Notch2.". Mol. Cell. Biol. 20 (18): 6913–22. doi:10.1128/MCB.20.18.6913-6922.2000. PMID 10958687.  
  • Shimizu K, Chiba S, Saito T, et al. (2000). "Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors.". Biochem. Biophys. Res. Commun. 276 (1): 385–9. doi:10.1006/bbrc.2000.3469. PMID 11006133.  
  • Heritage ML, MacMillan JC, Colliton RP, et al. (2000). "Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.". Hum. Mutat. 16 (5): 408–16. doi:10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9. PMID 11058898.  
  • Karanu FN, Murdoch B, Gallacher L, et al. (2000). "The notch ligand jagged-1 represents a novel growth factor of human hematopoietic stem cells.". J. Exp. Med. 192 (9): 1365–72. doi:10.1084/jem.192.9.1365. PMID 11067884.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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