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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

JAG1 Gene

protein-coding GIFtS: 74
GCID: GC20M010618

jagged 1

(Previous name: Alagille syndrome )
(Previous symbols: AGS, JAGL1)

Explore 70 diseases affiliated with
JAG1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Jagged 1¹ ²		HJ1¹ ²
JAGL1¹ ² ³		Alagille Syndrome¹
AGS¹ ² ⁵		Protein Jagged-1²
AHD¹ ² ⁵		Jagged1³
AWS¹ ²		CD339 Antigen³
CD339¹ ²		HJ1¹ ²

External Ids:	HGNC: 6188¹	Entrez Gene: 182²	Ensembl: ENSG00000101384⁷	OMIM: 601920⁵	UniProtKB: P78504³

Export aliases for JAG1 gene to outside databases

Previous GC identifers: GC20M010606 GC20M010613 GC20M010566 GC20M010569

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JAG1:

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. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504

Function: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in

cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular

development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis

(in vitro)

Gene Wiki entry for JAG1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011387.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the JAG1 gene promoter:
NF-1 p53 HTF CUTL1 STAT5A HNF-3beta FOXL1 Gfi-1 AREB6 SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): JAG1 promoter sequence

Search SABiosciences Chromatin IP Primers for JAG1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAG1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1-p11.23 Ensembl cytogenetic band: 20p12.2 HGNC cytogenetic band: 20p12.1-p11.23

JAG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAG1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M010618: view genomic region (about GC identifiers)

Start:	10,618,332 bp from pter	End:	10,654,694 bp from pter
Size:	36,363 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504 (See protein sequence)

Recommended Name: Protein jagged-1 precursor

Size: 1218 amino acids; 133799 Da

Subunit: Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions)

Subcellular location: Membrane; Single-pass type I membrane protein

Developmental stage: Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery, major

arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major

bronchial branches, and in the neural tube

Sequence caution: Sequence=AAC51323.1; Type=Frameshift; Positions=1187;

2 PDB 3D structures from and Proteopedia for JAG1:

2KB9 (3D)

2VJ2 (3D)

Secondary accessions: A0AV43 O14902 O15122 Q15816

Explore the universe of human proteins at neXtProt for JAG1: NX_P78504

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P78504

JAG1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000205.1

ENSEMBL proteins:

ENSP00000254958 ENSP00000389519

Reactome Protein details: P78504
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals JAG1 Proteins Novus Biologicals JAG1 Lysates
	Sino Biological Recombinant Protein for JAG1
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for JAG1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	11427524
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	NAS	11427524
GO:0016020	membrane	TAS	9268641
GO:0045177	apical part of cell	IEA	--

JAG1 for ontologies About GeneDecksing

JAG1 Antibody Products:

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	Uscn ELISAs and CLIAs for JAG1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

JAG1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR001881 EGF-like_Ca-bd

IPR001774 DSL

IPR000742 EG-like_dom

IPR013032 EGF-like_CS

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

Graphical View of Domain Structure for InterPro Entry P78504

ProtoNet protein and cluster: P78504

5 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001438 Type II EGF-like signature

IPB001774 Delta/Serrate/lag-2 (DSL) protein

IPB001881 EGF-like calcium-binding

IPB011651 Notch ligand

UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504

Domain: The second EGF-like domain is atypical

Similarity: Contains 1 DSL domain

Similarity: Contains 16 EGF-like domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504

Function: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in

cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular

development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis

(in vitro)

Genatlas biochemistry entry for JAG1:

NOTCH1 ligand,homolog to rat jagged 1 and Drosophila serrate,Rel/NFKB responsive gene,expressed in fetal heart at early

and late stages of cardiovascular-development,liver,mutated in Alagille syndrome

Summary:

During embryonic development, JAG1 as signaling molecule is secreted from the following cells: Pericytes in Sinusoids It affects the following cells: Distal Renal Vesicle Cells in Renal Vesicle, Hepatoblasts in Liver Bud (see all 4).

miRNA Products:		miRTarBase miRNAs that target JAG1: hsa-mir-21 (MIRT000176), hsa-mir-34a (MIRT000074), hsa-mir-200c (MIRT005457)

		OriGene 3'-UTR Clone: JAG1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAG1
		8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate JAG1 (see all 62):
		hsa-miR-140-5p hsa-miR-579 hsa-miR-4317 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-1245

		SwitchGear 3'UTR luciferase reporter plasmid: JAG1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JAG1 (see all 7) OriGene shRNA RFP: JAG1 OriGene siRNA: JAG1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAG1

Gene Editing
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DNA2.0 Custom Protein Engineering Service for JAG1

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		GenScript: all cDNA clones in your preferred vector: JAG1 (NM_000214)
		Sino Biological Human cDNA Clone for JAG1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAG1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005112	Notch binding	NAS	9268641
GO:0005198	structural molecule activity	NAS	10679295
GO:0005509	calcium ion binding	NAS	--
GO:0005515	protein binding	--	--
GO:0008083	growth factor activity	NAS	11067884

JAG1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for JAG1:

Increased G1 DNA content

Animal Models:
Mouse knock-outs for JAG1: Jag1^tm1.1Vtlr Jag1^tm2.1Grid Jag1^tm1Grid
15/21 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Jag1) (see all 21):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	integument	liver/biliary system	mortality/aging	muscle

JAG1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant

8/10 pathways (see all 10)
Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	1.00	FBXW7 Mutants and NOTCH1 in Cancer	1.00
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1.00	Signaling by NOTCH1	1.00
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1.00	Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.79
Signaling by NOTCH1 in Cancer	1.00	Signaling by NOTCH	0.77

NOTCH2 Activation and Transmission of Signal to the Nucleus

NOTCH2 Activation and Transmission of Signal to the Nucleus	1.00	Activated NOTCH1 Transmits Signal to the Nucleus	0.58
Signaling by NOTCH2	1.00	Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor	0.43
Constitutive Signaling by NOTCH1 HD Domain Mutants	0.62	Constitutive Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	0.24

Notch Signaling Pathway

	Notch Signaling Pathway	1.00			Delta-Notch Signaling Pathway	0.27
	Notch signaling pathway	0.82

Development_Notch Signaling Pathway

Development_Notch Signaling Pathway

1.00

Development Notch Signaling Pathway

0.97

Development NOTCH1-mediated pathway for NF-KB activity modulation

Development NOTCH1-mediated pathway for NF-KB activity modulation

1.00

Development_NOTCH1-mediated pathway for NF-KB activity modulation

0.88

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for JAG1

	Development Notch Signaling Pathway
	Development NOTCH1-mediated pathway for NF-KB activity modulation

2 Cell Signaling Technology (CST) Pathways for JAG1

	Wnt / Hedgehog / Notch
	Angiogenesis

2 GeneGo (Thomson Reuters) Pathways for JAG1

	Development NOTCH1-mediated pathway for NF-KB activity modulation
	Development Notch Signaling Pathway

3 BioSystems Pathways for JAG1

	Notch Signaling Pathway
	Delta-Notch Signaling Pathway
	Notch signaling pathway

5/21 Reactome Pathways for JAG1 (see all 21)

	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	FBXW7 Mutants and NOTCH1 in Cancer
	Signaling by NOTCH1 HD Domain Mutants in Cancer
	Signaling by NOTCH1 in Cancer
	Disease

1 Kegg Pathway (Kegg details for JAG1):

Notch signaling pathway

JAG1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for JAG1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/32 Interacting proteins for JAG1 (P78504^{2, 3} ENSP00000254958⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NOTCH3	Q9UM47²^,³, ENSP00000263388⁴	MINT-8360953 I2D: score=3 STRING: ENSP00000263388
CANX	P27824², ENSP00000247461⁴	MINT-8361157 MINT-8361140 STRING: ENSP00000247461
CALR	P27797², ENSP00000320866⁴	MINT-8361157 MINT-8361140 STRING: ENSP00000320866
MFNG	O00587³, ENSP00000349490⁴	I2D: score=2 STRING: ENSP00000349490
NOTCH2	Q04721³, ENSP00000256646⁴	I2D: score=2 STRING: ENSP00000256646

About this table

Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	NAS	8955070
GO:0001709	cell fate determination	NAS	9207788
GO:0002011	morphogenesis of an epithelial sheet	IEA	--
GO:0003184	pulmonary valve morphogenesis	IMP	--
GO:0003215	cardiac right ventricle morphogenesis	ISS	--

JAG1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

JAG1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for JAG1
1 Novoseek chemical compound relationship for JAG1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nitric oxide	0	1	20147635 (1)

Search CenterWatch for drugs/clinical trials and news about JAG1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for JAG1 gene:

NM_000214.2

Unigene Cluster for JAG1:

Jagged 1

Hs.626544 [show with all ESTs]

Unigene Representative Sequence: NM_000214

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000254958(uc002wnw.2) ENST00000488480 ENST00000423891(uc010gcd.1)

miRNA Products:		OriGene 3'-UTR Clone: JAG1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAG1
		8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate JAG1 (see all 62):
		hsa-miR-140-5p hsa-miR-579 hsa-miR-4317 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-1245

		SwitchGear 3'UTR luciferase reporter plasmid: JAG1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAG1

Additional cDNA sequence:

AF003837.1 AF028593.1 AK302554.1 AK311289.1 AK312722.1 BC028007.1 BC098393.1 BC111753.1

BC126205.1 BC126207.1 U61276.1 U73936.1 U77720.1 Z50166.1

14 DOTS entries:

DT.117454 DT.95275088 DT.100672695 DT.100769249 DT.406315 DT.95275069 DT.95120681 DT.445926

DT.92004065 DT.92040406 DT.120821523 DT.95280034 DT.99933882 DT.99985160

24/261 AceView cDNA sequences (see all 261):

AU133028 CB142914 BG656552 BM782994 BF590652 CA445059 BQ218805 BM695126

AI916552 AI087790 BM679558 BE855453 AI684091 BP345931 CA454464 BM708042

C14654 AL041509 BX480427 AA908281 AU118981 AI141418 AF028593 BG680619

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for JAG1 (see all 9) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	·	15c	^	16a	·	16b	^	17a	·	17b	^	18	^	19a	·
SP1:																																			-								-
SP2:																							-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP3:
SP4:																											-								-
SP5:																																											-

ExUns:	19b	^	20	^	21a	·	21b	^	22	^	23	^	24	^	25a	·	25b	·	25c	^	26	^	27a	·	27b	·	27c
SP1:	-														-
SP2:	-		-		-
SP3:															-				-
SP4:
SP5:

ECgene alternative splicing isoforms for JAG1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

JAG1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACAAACACC

About this image

JAG1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/28 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 28)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Distal Renal Vesicle Cells

Kidney

Renal Vesicle

Proximal Renal Vesicle Cells

Kidney

S-shaped Body Distal Segment

S-shaped Body Distal Cells

Kidney

S-shaped Body Medial Segment

S-shaped Body Medial Cells

Kidney

Liver, Pericytes

Female Gametocytes, Germ Cells

Placenta

Extravillous Cytotrophoblast Layer

Extravillous Cytotrophoblast Cells

Extraembryonic Tissues, Placenta

Kidney

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

N2/LSB induced-cells (Generation of midbra...)

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See JAG1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JAG1

SOURCE GeneReport for Unigene cluster: Hs.626544

UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504

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 cell line HS-27a which supports the long-term maintenance of immature progenitor cells

SABiosciences Expression via Pathway-Focused PCR Arrays including JAG1 (see all 11):

Growth Factors in human mouse rat

Angiogenesis in human mouse rat

Notch Signaling Pathway in human mouse rat

Stem Cells in human mouse rat

Notch Signaling Targets in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAG1

In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for JAG1 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	JAG1¹	jagged 1	80.45(n) 87.62(a)		396043 XM_415035.3 XP_415035.3
lizard (Anolis carolinensis)	Reptilia	JAG1⁶	--	85(a)	1 ↔ 1	1(134088765-134141003)
African clawed frog (Xenopus laevis)	Amphibia	Xl.11956²	Xenopus laevis mRNA for X-Serrate-1 protein, complete more	81.51(n)		AB027537.1
zebrafish (Danio rerio)	Actinopterygii	jag3²	jagged3	78.51(n)		140423 AF229451.1
honey bee (Apis mellifera)	Insecta	--	--	4(a)	possible ortholog	Group3.8(101041-161544)
worm (Caenorhabditis elegans)	Secernentea	W02C12.1³	EGF-like protein	36(a) (best of 6)		IV(4008218-4014159) --

ENSEMBL Gene Tree for JAG1 (if available)
TreeFam Gene Tree for JAG1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for JAG1 gene

NOTCH4² SNED1² NOTCH1² NOTCH3² DLL3² DLL4² CRB2² JAG2²

NOTCH2² DNER² CRB1² DLL1²

14 SIMAP similar genes for JAG1 using alignment to 6 protein entries: JAG1_HUMAN (see all proteins):

F9 JAG2 DLK2 DLK1 DLL4 NOTCH3

DLL1 TENM2 WIF1 CNTNAP2 CRB1 TENM4

LRP1B NOTCH1

JAG1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs117109836^1,2	F,	--	10618075(+)	`GAGCCC/TGAACA`	1	--	ds500¹		1		NA	120
rs146582101^1,2		--	10618104(+)	`CACCTC/TCTGTG`	1	--	ds500¹		0	--	--	--	--
rs6040049^1,2	C,H	--	10618151(+)	`GAGTCA/TTTTCA`	1	--	ds500¹		4		NS EA	420
rs114146310^1,2	C,F,	--	10618247(+)	`TCCCAA/GCACCA`	1	--	ds500¹		1		WA	118
rs188522416^1,2		--	10618421(+)	`CTCCCA/GCAGTT`	1	--	ut3¹		0	--	--	--	--
rs8708^1,2	C,F,O,A,H,	--	10618574(-)	`TTGCCA/GTGTGC`	1	--	ut3¹		33		MN EA NS NA WA CSA	4817
rs139100145^1,2		--	10618594(+)	`AACTAC/TGTAAG`	1	--	ut3¹		0	--	--	--	--
rs78471165^1,2	C,	--	10618653(+)	`AAATAT/CTACTT`	1	--	ut3¹		1		EA	120
rs192062515^1,2		--	10618709(+)	`TGTTCA/GTATAA`	1	--	ut3¹		0	--	--	--	--
rs144673060^1,2		--	10618744(+)	`CTTCAC/TGGTCT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for JAG1 (10618332 - 10654694 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for JAG1: --
Human Gene Mutation Database (HGMD): JAG1

Locus Specific Mutation Databases (LSDB): JAG1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

JAG1 for disorders           About GeneDecksing

OMIM gene information: 601920
OMIM disorders: 118450  187500
UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504

Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. Alagille syndrome is an

autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association

with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent

clinical involvement of the renal and vascular systems

Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which

consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side

instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to

inadequate oxygenation. Surgical correction is emergent

20/70 diseases for JAG1 (see all 70): About MalaCards

alagille syndrome deafness, congenital heart defects, and posterior embryotoxon wolff-parkinson-white syndrome mckusick-kaufman syndrome

hajdu-cheney syndrome biliary atresia extrahepatic alcohol withdrawal delirium congenital heart defect

pulmonary valve stenosis hematopoiesis nodular regenerative hyperplasia congenital aortic valve stenosis

biliary atresia aortic valve stenosis superficial basal cell carcinoma developmental disabilities

pulmonic stenosis anaplastic large cell lymphoma cadasil basal cell carcinoma

7 diseases from the University of Copenhagen DISEASES database for JAG1:

Alagille syndrome Tetralogy of Fallot Pulmonary valve stenosis Cholestasis

Cancer Cadasil Pseudopapilledema

10/29 Novoseek disease relationships for JAG1 gene (see all 29) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alagille syndrome	98	147	11861489 (6), 11745040 (4), 12244552 (3), 17949281 (3) (see all 84)
pfic3	76	1	17241866 (1)
byler disease	69	1	17241866 (1)
developmental disabilities	62.8	3	17366661 (1), 10075489 (1), 10220506 (1)
pulmonary valve stenosis	61.6	6	20437614 (2), 10213047 (1), 12649809 (1), 12372254 (1)
cholestasis intrahepatic	56.5	3	10220506 (1), 17241866 (1)
cholestasis	52.7	4	20091053 (1), 15768832 (1), 10975791 (1), 15389319 (1)
biliary atresia, extrahepatic	48.5	1	12297837 (1)
cadasil	47.9	1	10075489 (1)
heart defects congenital	44.9	4	10213047 (4)

GeneTests: JAG1

Alagille Syndrome

Genetic Association Database (GAD): JAG1
Human Genome Epidemiology (HuGE) Navigator: JAG1 (19 documents)

Export disorders for JAG1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for JAG1 gene, integrated from 9 sources (see all 305):
(articles sorted by number of sources associating them with JAG1)

Utopia: connect your pdf to the dynamic
world of online information

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. (PubMed id 9207788)^{1, 2, 3, 9} Li L....Spinner N.B. (1997)
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian Alagille syndrome patients. (PubMed id 12442286)^{1, 2, 9} Heritage M.L.... Anderson G.J. (2002)
Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (PubMed id 9585603)^{1, 2, 9} Krantz I.D....Spinner N.B. (1998)
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (PubMed id 12497640)^{1, 2, 9} Roepke A.... Hansmann I. (2003)
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. (PubMed id 12649809)^{1, 2, 9} Lu F.... Spinner N.B. (2003)
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. (PubMed id 12427653)^{1, 4, 9} McElhinney D.B....Goldmuntz E. (2002)
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. (PubMed id 11180599)^{1, 2, 9} Colliton R.P....Spinner N.B. (2001)
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. (PubMed id 11058898)^{1, 2, 9} Heritage M.L....Anderson G.J. (2000)
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. (PubMed id 11157803)^{1, 2, 9} Morrissette J.J.D.... Spinner N.B. (2001)
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (PubMed id 9268641)^{1, 2, 9} Oda T.... Chandrasekharappa S.C. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 182	HGNC: 6188	AceView: JAG1	Ensembl:ENSG00000101384	euGenes: HUgn182
ECgene: JAG1	Kegg: 182	H-InvDB: JAG1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for JAG1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for JAG1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JAG1

Intellectual Property for JAG1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for JAG1 gene:
Search GeneIP for patents involving JAG1

GeneCards and IP:
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Developmental Disabilities
Gastric Cancer
Alagille Syndrome
Heart Defects Congenital
Hypoplasia
CADASIL
CHOLANGITIS PRIMARY SCLEROSING
Pulmonary Valve Stenosis
Liver Failure
Liver Dysfunction
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jagged 1

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