Details for: JAG1
Associated with
Other Information
Genular Protein ID: 4165505339
Symbol: JAG1_HUMAN
Name: Protein jagged-1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9268641
Title: Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12.
PubMed ID: 9268641
PubMed ID: 9207788
Title: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
PubMed ID: 9207788
DOI: 10.1038/ng0797-243
PubMed ID: 9462510
Title: The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1.
PubMed ID: 9462510
PubMed ID: 10329626
Title: Rel/NF-kappaB can trigger the Notch signaling pathway by inducing the expression of Jagged1, a ligand for Notch receptors.
PubMed ID: 10329626
PubMed ID: 10079256
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8955070
Title: An antisense oligonucleotide to the notch ligand Jagged enhances fibroblast growth factor-induced angiogenesis in vitro.
PubMed ID: 8955070
PubMed ID: 9207787
Title: Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
PubMed ID: 9207787
DOI: 10.1038/ng0797-235
PubMed ID: 10978356
Title: JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype.
PubMed ID: 10978356
DOI: 10.1136/jmg.37.9.658
PubMed ID: 19948535
Title: Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
PubMed ID: 19948535
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 18660822
Title: A conserved face of the Jagged/Serrate DSL domain is involved in Notch trans-activation and cis-inhibition.
PubMed ID: 18660822
DOI: 10.1038/nsmb.1457
PubMed ID: 19586525
Title: Exon 6 of human JAG1 encodes a conserved structural unit.
PubMed ID: 19586525
PubMed ID: 9585603
Title: Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
PubMed ID: 9585603
DOI: 10.1086/301875
PubMed ID: 10220506
Title: Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.
PubMed ID: 10220506
PubMed ID: 10533065
Title: Jagged-1 mutation analysis in Italian Alagille syndrome patients.
PubMed ID: 10533065
DOI: 10.1002/(sici)1098-1004(199911)14:5<394::aid-humu5>3.0.co;2-1
PubMed ID: 11058898
Title: Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
PubMed ID: 11058898
DOI: 10.1002/1098-1004(200011)16:5<408::aid-humu5>3.0.co;2-9
PubMed ID: 11152664
Title: Familial tetralogy of Fallot caused by mutation in the Jagged1 gene.
PubMed ID: 11152664
DOI: 10.1093/hmg/10.2.163
PubMed ID: 11157803
Title: Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
PubMed ID: 11157803
DOI: 10.1093/hmg/10.4.405
PubMed ID: 11139247
Title: Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
PubMed ID: 11139247
DOI: 10.1002/1098-1004(2001)17:1<72::aid-humu11>3.0.co;2-u
PubMed ID: 11180599
Title: Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
PubMed ID: 11180599
DOI: 10.1002/1098-1004(200102)17:2<151::aid-humu8>3.0.co;2-t
PubMed ID: 12022040
Title: Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged 1.
PubMed ID: 12022040
DOI: 10.1086/341327
PubMed ID: 12297837
Title: The significance of human Jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.
PubMed ID: 12297837
PubMed ID: 12442286
Title: DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian Alagille syndrome patients.
PubMed ID: 12442286
DOI: 10.1002/humu.9095
PubMed ID: 12649809
Title: Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
PubMed ID: 12649809
DOI: 10.1086/374386
PubMed ID: 12497640
Title: Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
PubMed ID: 12497640
DOI: 10.1002/humu.9102
PubMed ID: 15712272
Title: Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
PubMed ID: 15712272
DOI: 10.1002/humu.9313
PubMed ID: 16575836
Title: Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
PubMed ID: 16575836
DOI: 10.1002/humu.20310
PubMed ID: 23801938
Title: Alagille Syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA.
PubMed ID: 23801938
DOI: 10.1159/000347231
PubMed ID: 20437614
Title: Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
PubMed ID: 20437614
DOI: 10.1002/humu.21231
PubMed ID: 32065591
Title: Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
PubMed ID: 32065591
DOI: 10.1172/jci128152
Sequence Information:
- Length: 1218
- Mass: 133799
- Checksum: F36EE9FBF64DF162
- Sequence:
MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ NGNCCGGARN PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP VIGGNTFNLK ASRGNDRNRI VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS IIEKASHSGM INPSRQWQTL KQNTGVAHFE YQIRVTCDDY YYGFGCNKFC RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP KHGSCKLPGD CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS CKETSLGFEC ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC PPQWTGKTCQ LDANECEAKP CVNAKSCKNL IASYYCDCLP GWMGQNCDIN INDCLGQCQN DASCRDLVNG YRCICPPGYA GDHCERDIDE CASNPCLNGG HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC YNRASDYFCK CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS YKCICSDGWE GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK TCHSRDSQCD EATCNNGGTC YDEGDAFKCM CPGGWEGTTC NIARNSSCLP NPCHNGGTCV VNGESFTCVC KEGWEGPICA QNTNDCSPHP CYNSGTCVDG DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN GYRCVCPPGH SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS DSYYQDNCAN ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI ACEPSPSANN EIHVAISAED IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA WICCLVTAFY WCLRKRRKPG SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE NKNSKMSKIR THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ DNRDLESAQS LNRMEYIV
Genular Protein ID: 3696007684
Symbol: Q99740_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7697721
Title: Jagged: a mammalian ligand that activates Notch1.
PubMed ID: 7697721
PubMed ID: 8955070
Title: An antisense oligonucleotide to the notch ligand Jagged enhances fibroblast growth factor-induced angiogenesis in vitro.
PubMed ID: 8955070
Sequence Information:
- Length: 263
- Mass: 28405
- Checksum: E77235CBB360B620
- Sequence:
ARNSSCLPNP CHNGGTCVVN GESFTCVCKE GWEGPICAQN TNDCSPHPCY NSGTCVDGDN WYRCECAPGF AGPDCRININ ECQSSPCAFG ATCVDEINGY RCVCPPGHSG AKCQEVSGRP CITMGSVIPD GAKWDDDCNT CQCLNGRIAC SKVWCGPRPC LLHKGHSECP SGQSCIPILD DQCFVHPCTG VGECRSSSLQ PVKTKCTSDS YYQDNCANIT FTFNKEMMSP GLTTEHICSE LRNLNILKIY GMMGTRSRKS LTK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.