Details for: JAG1

Gene ID: 182

Symbol: JAG1

Ensembl ID: ENSG00000101384

Description: jagged canonical Notch ligand 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 214.5357
    Cell Significance Index: -33.3700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 133.0411
    Cell Significance Index: -33.7500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 79.7917
    Cell Significance Index: -32.8700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 73.2013
    Cell Significance Index: -34.5600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 51.7867
    Cell Significance Index: -34.7500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 30.8984
    Cell Significance Index: -29.5000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.8198
    Cell Significance Index: -23.6800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.4312
    Cell Significance Index: -33.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 4.0005
    Cell Significance Index: 111.8000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.5607
    Cell Significance Index: 20.4500
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 2.2783
    Cell Significance Index: 16.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.9294
    Cell Significance Index: 367.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.5901
    Cell Significance Index: 43.2800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.3598
    Cell Significance Index: 167.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.3583
    Cell Significance Index: 244.8700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0875
    Cell Significance Index: 107.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0622
    Cell Significance Index: 172.7600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9864
    Cell Significance Index: 51.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7121
    Cell Significance Index: 388.8900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6815
    Cell Significance Index: 35.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6785
    Cell Significance Index: 45.6200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6509
    Cell Significance Index: 18.7600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.6472
    Cell Significance Index: 32.7100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.6406
    Cell Significance Index: 870.9700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6343
    Cell Significance Index: 12.3800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6315
    Cell Significance Index: 37.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6172
    Cell Significance Index: 557.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6134
    Cell Significance Index: 13.2900
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.6117
    Cell Significance Index: 5.4300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6022
    Cell Significance Index: 65.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5065
    Cell Significance Index: 223.9400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4636
    Cell Significance Index: 29.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4204
    Cell Significance Index: 150.8000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3363
    Cell Significance Index: 517.7600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.3213
    Cell Significance Index: 3.8300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2941
    Cell Significance Index: 13.3300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2789
    Cell Significance Index: 19.2900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.2201
    Cell Significance Index: 1.3300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1886
    Cell Significance Index: 37.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1518
    Cell Significance Index: 20.8400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1491
    Cell Significance Index: 29.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1433
    Cell Significance Index: 18.3700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1004
    Cell Significance Index: 2.5100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0814
    Cell Significance Index: 0.7500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0571
    Cell Significance Index: 9.7500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0450
    Cell Significance Index: 0.6400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0372
    Cell Significance Index: 27.3000
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.0355
    Cell Significance Index: 0.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0242
    Cell Significance Index: 0.8500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0080
    Cell Significance Index: 5.0700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0028
    Cell Significance Index: -0.2000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0029
    Cell Significance Index: -5.4300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0078
    Cell Significance Index: -0.1300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0090
    Cell Significance Index: -6.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0118
    Cell Significance Index: -22.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0179
    Cell Significance Index: -13.2400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0196
    Cell Significance Index: -12.2500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0361
    Cell Significance Index: -20.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0371
    Cell Significance Index: -28.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0596
    Cell Significance Index: -27.0300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0768
    Cell Significance Index: -1.7800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0784
    Cell Significance Index: -2.4800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0850
    Cell Significance Index: -1.1600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0879
    Cell Significance Index: -8.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0885
    Cell Significance Index: -12.8700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0958
    Cell Significance Index: -0.8100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0997
    Cell Significance Index: -21.0000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1021
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1135
    Cell Significance Index: -13.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1146
    Cell Significance Index: -2.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1216
    Cell Significance Index: -34.9800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1354
    Cell Significance Index: -3.8800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1633
    Cell Significance Index: -1.6900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1850
    Cell Significance Index: -21.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1943
    Cell Significance Index: -22.6400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2326
    Cell Significance Index: -30.0500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.2510
    Cell Significance Index: -3.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2725
    Cell Significance Index: -20.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2816
    Cell Significance Index: -15.8000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2858
    Cell Significance Index: -7.6300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3223
    Cell Significance Index: -33.5600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3336
    Cell Significance Index: -6.9200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3605
    Cell Significance Index: -27.6700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3725
    Cell Significance Index: -22.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3819
    Cell Significance Index: -30.2500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3979
    Cell Significance Index: -46.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4081
    Cell Significance Index: -25.0900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4432
    Cell Significance Index: -20.8300
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.4440
    Cell Significance Index: -2.0500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4743
    Cell Significance Index: -16.4800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4771
    Cell Significance Index: -7.1900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5240
    Cell Significance Index: -9.2600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5279
    Cell Significance Index: -34.0600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6334
    Cell Significance Index: -18.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.6338
    Cell Significance Index: -29.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6475
    Cell Significance Index: -23.7700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6679
    Cell Significance Index: -19.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6936
    Cell Significance Index: -30.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.7115
    Cell Significance Index: -37.3600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7162
    Cell Significance Index: -27.1200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** JAG1 is a type I membrane protein that belongs to the Notch ligand family. It is primarily expressed in epithelial cells, including those of the lung, kidney, and eye. JAG1 is characterized by its ability to interact with Notch receptors, triggering a signaling cascade that regulates cell fate determination, proliferation, and differentiation. The JAG1 protein contains two distinct domains: the extracellular domain and the intracellular domain. The extracellular domain interacts with Notch receptors, while the intracellular domain translocates to the nucleus to regulate gene expression. **Pathways and Functions:** JAG1 is involved in various signaling pathways, including: 1. Notch signaling: JAG1 interacts with Notch receptors, triggering a signaling cascade that regulates cell fate determination, proliferation, and differentiation. 2. Cell adhesion: JAG1 is involved in the regulation of cell-cell adhesion, influencing the development and maintenance of epithelial tissues. 3. Angiogenesis: JAG1 is required for the regulation of angiogenesis, the formation of new blood vessels. 4. Immune regulation: JAG1 plays a critical role in the regulation of immune responses, including T-cell mediated immunity. JAG1's functions include: 1. Cell fate determination: JAG1 influences the determination of cell fate, including the differentiation of stem cells into specific cell types. 2. Proliferation: JAG1 regulates cell proliferation, influencing the growth and development of tissues. 3. Differentiation: JAG1 is involved in the regulation of cell differentiation, influencing the development of specific cell types. 4. Immune response: JAG1 plays a critical role in the regulation of immune responses, including the activation of T-cells. **Clinical Significance:** JAG1 is associated with various diseases, including: 1. Alagille syndrome: A genetic disorder characterized by liver disease, heart defects, and immune deficiency. 2. Pulmonary valve stenosis: A congenital heart defect characterized by narrowing of the pulmonary valve. 3. Lung cancer: JAG1 is overexpressed in lung cancer, influencing tumor growth and metastasis. 4. Immune-related disorders: JAG1 is involved in the regulation of immune responses, and its dysregulation can lead to autoimmune diseases. In conclusion, JAG1 is a critical gene involved in various biological processes, including immune regulation, development, and disease. Its dysregulation can lead to various disorders, highlighting the importance of understanding JAG1's functions and pathways. Further research is needed to elucidate the mechanisms underlying JAG1's role in disease and to develop targeted therapies for the treatment of JAG1-related disorders.

Genular Protein ID: 4165505339

Symbol: JAG1_HUMAN

Name: Protein jagged-1

UniProtKB Accession Codes:

P78504 A0AV43 B4DYR1 E9PCF9 O14902 O15122 Q15816

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 9 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 55 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRINTS 2 PRO 1 PROSITE 6 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 12 RefSeq 2 SIGNOR 1 SMART 5 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

DOI: 10.1006/geno.1997.4820

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

DOI: 10.1016/s1074-7613(00)80457-4

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

DOI: 10.1093/emboj/18.10.2803

PubMed ID: 10079256

Title: Human ligands of the Notch receptor.

PubMed ID: 10079256

DOI: 10.1016/s0002-9440(10)65325-4

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

DOI: 10.1074/jbc.271.51.32499

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

DOI: 10.1136/jmg.2009.070391

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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

DOI: 10.1186/1472-6807-9-43

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

DOI: 10.1016/s0016-5085(99)70017-x

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

DOI: 10.1053/jhep.2002.35820

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:

Q99740

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 2 InterPro 9 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SMART 4 SUPFAM 2

Citations:

PubMed ID: 7697721

Title: Jagged: a mammalian ligand that activates Notch1.

PubMed ID: 7697721

DOI: 10.1016/0092-8674(95)90294-5

PubMed ID: 8955070

Title: An antisense oligonucleotide to the notch ligand Jagged enhances fibroblast growth factor-induced angiogenesis in vitro.

PubMed ID: 8955070

DOI: 10.1074/jbc.271.51.32499

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.