| Entry |
|
| Gene name |
JAG1, AGS, AHD, AWS, CD339, HJ1, JAGL1
|
| Definition |
jagged 1
|
| Orthology |
|
| Organism |
|
| Pathway |
|
| Disease |
| Tetralogy of Fallot | | Alagille syndrome |
|
| Class |
Environmental Information Processing; Signal transduction; Notch signaling pathway [PATH: hsa04330]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
20p12.1-p11.23
|
| AA seq |
1218 aa  
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARN
PGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRI
VLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFE
YQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSP
KHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYC
GTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFEC
ECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKP
CVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYA
GDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQC
YNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCG
PHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWE
GAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTC
YDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICA
QNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEIN
GYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPR
PCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCAN
ITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAED
IRDDGNPIKEITDKIIDLVSKRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVA
WICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNPIEKHGANTVPIKDYE
NKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
DNRDLESAQSLNRMEYIV |
| NT seq |
3657 nt  +upstreamnt +downstreamnt
atgcgttccccacggacgcgcggccggtccgggcgccccctaagcctcctgctcgccctg
ctctgtgccctgcgagccaaggtgtgtggggcctcgggtcagttcgagttggagatcctg
tccatgcagaacgtgaacggggagctgcagaacgggaactgctgcggcggcgcccggaac
ccgggagaccgcaagtgcacccgcgacgagtgtgacacatacttcaaagtgtgcctcaag
gagtatcagtcccgcgtcacggccggggggccctgcagcttcggctcagggtccacgcct
gtcatcgggggcaacaccttcaacctcaaggccagccgcggcaacgaccgcaaccgcatc
gtgctgcctttcagtttcgcctggccgaggtcctatacgttgcttgtggaggcgtgggat
tccagtaatgacaccgttcaacctgacagtattattgaaaaggcttctcactcgggcatg
atcaaccccagccggcagtggcagacgctgaagcagaacacgggcgttgcccactttgag
tatcagatccgcgtgacctgtgatgactactactatggctttggctgcaataagttctgc
cgccccagagatgacttctttggacactatgcctgtgaccagaatggcaacaaaacttgc
atggaaggctggatgggccccgaatgtaacagagctatttgccgacaaggctgcagtcct
aagcatgggtcttgcaaactcccaggtgactgcaggtgccagtacggctggcaaggcctg
tactgtgataagtgcatcccacacccgggatgcgtccacggcatctgtaatgagccctgg
cagtgcctctgtgagaccaactggggcggccagctctgtgacaaagatctcaattactgt
gggactcatcagccgtgtctcaacgggggaacttgtagcaacacaggccctgacaaatat
cagtgttcctgccctgaggggtattcaggacccaactgtgaaattgctgagcacgcctgc
ctctctgatccctgtcacaacagaggcagctgtaaggagacctccctgggctttgagtgt
gagtgttccccaggctggaccggccccacatgctctacaaacattgatgactgttctcct
aataactgttcccacgggggcacctgccaggacctggttaacggatttaagtgtgtgtgc
cccccacagtggactgggaaaacgtgccagttagatgcaaatgaatgtgaggccaaacct
tgtgtaaacgccaaatcctgtaagaatctcattgccagctactactgcgactgtcttccc
ggctggatgggtcagaattgtgacataaatattaatgactgccttggccagtgtcagaat
gacgcctcctgtcgggatttggttaatggttatcgctgtatctgtccacctggctatgca
ggcgatcactgtgagagagacatcgatgaatgtgccagcaacccctgtttgaatgggggt
cactgtcagaatgaaatcaacagattccagtgtctgtgtcccactggtttctctggaaac
ctctgtcagctggacatcgattattgtgagcctaatccctgccagaacggtgcccagtgc
tacaaccgtgccagtgactatttctgcaagtgccccgaggactatgagggcaagaactgc
tcacacctgaaagaccactgccgcacgaccccctgtgaagtgattgacagctgcacagtg
gccatggcttccaacgacacacctgaaggggtgcggtatatttcctccaacgtctgtggt
cctcacgggaagtgcaagagtcagtcgggaggcaaattcacctgtgactgtaacaaaggc
ttcacgggaacatactgccatgaaaatattaatgactgtgagagcaacccttgtagaaac
ggtggcacttgcatcgatggtgtcaactcctacaagtgcatctgtagtgacggctgggag
ggggcctactgtgaaaccaatattaatgactgcagccagaacccctgccacaatgggggc
acgtgtcgcgacctggtcaatgacttctactgtgactgtaaaaatgggtggaaaggaaag
acctgccactcacgtgacagtcagtgtgatgaggccacgtgcaacaacggtggcacctgc
tatgatgagggggatgcttttaagtgcatgtgtcctggcggctgggaaggaacaacctgt
aacatagcccgaaacagtagctgcctgcccaacccctgccataatgggggcacatgtgtg
gtcaacggcgagtcctttacgtgcgtctgcaaggaaggctgggaggggcccatctgtgct
cagaataccaatgactgcagccctcatccctgttacaacagcggcacctgtgtggatgga
gacaactggtaccggtgcgaatgtgccccgggttttgctgggcccgactgcagaataaac
atcaatgaatgccagtcttcaccttgtgcctttggagcgacctgtgtggatgagatcaat
ggctaccggtgtgtctgccctccagggcacagtggtgccaagtgccaggaagtttcaggg
agaccttgcatcaccatggggagtgtgataccagatggggccaaatgggatgatgactgt
aatacctgccagtgcctgaatggacggatcgcctgctcaaaggtctggtgtggccctcga
ccttgcctgctccacaaagggcacagcgagtgccccagcgggcagagctgcatccccatc
ctggacgaccagtgcttcgtccacccctgcactggtgtgggcgagtgtcggtcttccagt
ctccagccggtgaagacaaagtgcacctctgactcctattaccaggataactgtgcgaac
atcacatttacctttaacaaggagatgatgtcaccaggtcttactacggagcacatttgc
agtgaattgaggaatttgaatattttgaagaatgtttccgctgaatattcaatctacatc
gcttgcgagccttccccttcagcgaacaatgaaatacatgtggccatttctgctgaagat
atacgggatgatgggaacccgatcaaggaaatcactgacaaaataatcgatcttgttagt
aaacgtgatggaaacagctcgctgattgctgccgttgcagaagtaagagttcagaggcgg
cctctgaagaacagaacagatttccttgttcccttgctgagctctgtcttaactgtggct
tggatctgttgcttggtgacggccttctactggtgcctgcggaagcggcggaagccgggc
agccacacacactcagcctctgaggacaacaccaccaacaacgtgcgggagcagctgaac
cagatcaaaaaccccattgagaaacatggggccaacacggtccccatcaaggattatgag
aacaagaactccaaaatgtctaaaataaggacacacaattctgaagtagaagaggacgac
atggacaaacaccagcagaaagcccggtttgccaagcagccggcgtacacgctggtagac
agagaagagaagccccccaacggcacgccgacaaaacacccaaactggacaaacaaacag
gacaacagagacttggaaagtgcccagagcttaaaccgaatggagtacatcgtatag |