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JAG1 Gene

protein-coding GIFtS: 71

GC20M010566

jagged 1 (Alagille syndrome)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: AGS, JAGL1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
AGS ^², ⁵
AHD ^¹, ², ⁵
AWS ^¹, ²
CD339 ^¹, ²
HJ1 ^¹, ²
JAGL1 ^², ³
Jagged1 ^³
MGC104644 ^²
OTTHUMP00000030278 ^²
hJ1 ^³

Descriptions
CD339 antigen ^³
jagged 1 ^²
jagged 1 (Alagille syndrome) ^²

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

Search outside databases for aliases for JAG1 gene

Previous GC identifers: GC20M010606 GC20M010613

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the JAG1 gene

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)

GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M010566: (about GC identifiers)

Start:	10,566,334 bp from pter
End:	10,602,636 bp from pter
Size:	36,303 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000020.9 NT_011387.8

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504 (See protein sequence)

Recommended Name: Protein jagged-1 precursor

Size: 1218 amino acids; 133799 Da

Subunit: Interacts with NOTCH1, NOTCH2 and NOTCH3 (By similarity)

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;

PDB structures from and Proteopedia :

2VJ2 (3D)

Secondary accessions: A0AV43 O14902 O15122 Q15816

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000205.1

ENSEMBL proteins:

ENSP00000254958

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for JAG1 (Jagged 1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Jagged1)
	Human Recombinant Proteins from Abnova (JAG1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	11427524
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	NAS	11427524

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Antibodies for JAG1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for JAG1
	R&D Systems Antibodies for JAG1 (Jagged 1)
	Cell Signaling Technology (CST) Antibodies for JAG1 (Jagged1)
	Antibodies from Abcam (Jagged1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (JAG1)
	Novus Biologicals Antibodies for JAG1

Assays for JAG1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Similarity: Contains 1 DSL domain

Similarity: Contains 15 EGF-like domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JAG1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (JAG1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000214

Applied Biosystems Silencer® siRNAs for JAG1

Sigma-Aldrich siRNA and siRNA Panels for JAG1

Sigma-Aldrich shRNA for JAG1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for JAG1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000214
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000214
untagged cDNA clone in CMV expression vector: NM_000214

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000214

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

15/16 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Jag1) (see all 16 ):

	behavior/neurological	cellular	embryogenesis	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	lethality-postnatal
lethality-prenatal/perinatal	liver/biliary system	nervous system	no phenotypic analysis	renal/urinary system

5 Gene Ontology (GO) molecular function terms (links to tree view):

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	IEA	--
GO:0008083	growth factor activity	NAS	11067884

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for JAG1 (Your Favorite Gene powered by Ingenuity)

Notch Signaling

GeneDecks JAG1 for the pathways selected above

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

5/34 Interacting proteins for JAG1 (ENSP00000254958³) via UniProtKB, MINT, and/or STRING (see all 34 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NOTCH2	ENSP00000256646³	STRING (score=.996)
NOTCH1	ENSP00000360765³	STRING (score=.989)
NOTCH3	ENSP00000263388³	STRING (score=.988)
MFAP5	ENSP00000352455³	STRING (score=.924)
DLL1	ENSP00000355718³	STRING (score=.913)

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5/18 Gene Ontology (GO) biological process terms (links to tree view) (see all 18 ):

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:0007154	cell communication	IEA	--
GO:0007275	multicellular organismal development	NAS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for JAG1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JAG1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (JAG1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000214

Sigma-Aldrich siRNA and siRNA Panels for JAG1

Sigma-Aldrich shRNA for JAG1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000214

REFSEQ mRNAs for JAG1 gene:

NM_000214.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000214

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000214
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000214
                                 untagged cDNA clone in CMV expression vector: NM_000214

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 U77914.1 Z50166.1

14 DOTS entries:

DT.117454 DT.95275088 DT.100672695 DT.100769249 DT.406315 DT.95275069 DT.99933882 DT.95120681

DT.445926 DT.92040406 DT.120821523 DT.92004065 DT.95280034 DT.99985160

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

BF590652 AI916552 AF028593 BM695126 CA445059 BM708042 AL041509 CA391974

AI141418 BM679558 AI269167 AU118981 AI684091 AA857340 C14654 BX480427

AI087790 CB142914 BG656552 AI671755 BE855453 AU133028 CA454464 BM782994

highest scoring ESTs for JAG1:

U61276 AA046993 AA992678 AF003837 AF028593 AI199733 AI279437 AI290878 AI361799 AI380292

Unigene Cluster for JAG1:

Jagged 1 (Alagille syndrome)

Hs.714736 [show with all ESTs]

Unigene Representative Sequence: NM_000214

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for JAG1

1 Ensembl transcript including schematic representation:

ENST00000254958

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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JAG1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for JAG1

¹ / ² / ³

11 probe-sets matching JAG1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
74827_s_at²^{, 3}	U95-D	1	1.00	1.00	0.93	1.16	AI739154	0.40	1.00	0.76	1
35414_s_at²^{, 3}	U95-A	1	1.00	1.00	0.97	0.82	U77914	0.40	1.00	0.76	1
33178_at²^{, 3}	U95-A	2	1.00	0.97	0.77	1.02	U61276	1.00	1.00	1.00	1
216268_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U77914	0.40	1.00	0.76	1
209097_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BF056748	0.80	1.00	0.91	1
209098_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U61276	1.00	1.00	1.00	1
209099_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U73936	0.80	1.00	0.91	1
216268_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209097_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209098_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209099_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks JAG1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GACAAACACC

SOURCE GeneReport for Unigene cluster: Hs.714736
Expression variation in blood from EXPOLDB for JAG1
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for JAG1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	JAG1¹	--	jagged 1 (Alagille syndrome)	91.65(n) 97.21(a)	485769 XM_853730.1 XP_858823.1
chimpanzee (Pan troglodytes)	JAG1¹	--	jagged 1 (Alagille syndrome)	99.32(n) 99.67(a)	748073 XM_001169666.1 XP_001169666.1
cow (Bos taurus)	JAG1¹	--	jagged 1 (Alagille syndrome)	89.74(n) 95.81(a)	783681 XM_001251494.1 XP_001251495.1
rat (Rattus norvegicus)	Jag1¹	--	jagged 1	90.48(n) 96.47(a)	29146 NM_019147.1 NP_062020.1
mouse (Mus musculus)	Jag1^{1, 5}	2 (77.00 cM)⁵	jagged 1^{1, 5}	90.23(n)¹ 96.55(a)¹	16449¹ NM_013822.3¹ NP_038850.1¹ AA880220⁵ AF171092⁵ (see all 12)

About this table Species with no ortholog for JAG1

ENSEMBL Gene Tree for JAG1

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

JAG2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/253 NCBI SNPs in JAG1 are shown (see all 253 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 100)

AB	SNP ID	Valid	Chr 20 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs910119^1,2	A,C,F,H,O	10604059(-)	`CAGAAT/AGATGA`	1	--	ng3¹		12		NA EA EU WA	1188
	rs8708^1,2	A,C,F,H,O	10566574(-)	`TTGCCA/GTGTGC`	1	--	ut3¹		13		MN EA EU WA NA	2884
	rs910118^1,2	A,C,F,H	10604087(-)	`GGTCAG/TTTAGC`	1	--	ng3¹		12		EA NA EU WA	990
	rs7828^1,2	A,C,F,H	10567014(-)	`AATCTT/GACTTT`	1	--	ut3¹		14		MN EU EA WA NA	1362
	rs6040067^1,2	C,F,H	10592614(+)	`ACGAAC/TGGTGT`	1	V/I	mis¹ ese³		8		EU EA WA	838
--	rs6040073^1,2	A,C,F	10602563(+)	`AAAAAC/ACCAGC`	1	--	ut5¹ trp³		1		MN	184
	rs6104633^1,2	H	10603853(+)	`ATGTCC/TTGCAG`	1	--	ng3¹		4		EU EA WA	418
--	rs7264849^1,2	A	10602864(+)	`CCCCGC/TCCTCG`	1	--	ng3¹		0	--	--	--	--
--	rs1051412^1,2	A	10602563(-)	`GCTGGG/TTTTTT`	1	--	ut5¹		0	--	--	--	--
	rs7353635^1,2	H	10568153(+)	`ATACGA/GTGTAC`	1	I/T	mis¹ ese³		4		EU EA WA	416

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HapMap Linkage Disequilibrium images for JAG1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601920

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

The mutation Asp-274 is "leaky". Two populations of proteins are produced from this

allele. One population is abnormally glycosylated and is retained intracellularly rather than

being transported to the cell surface. A second population is normally glycosylated and is

transported to the cell surface, where it is able to signal to the Notch receptor. The Asp-274

protein is temperature sensitive, with more abnormally glycosylated (and nonfunctional) molecules

produced at higher temperatures. Carriers of this mutation therefore have more than 50% but less

than 100% of the normal concentration of molecules on the cell surface. The cardiac-specific

phenotype associated with this mutation suggests that the developing heart is more sensitive than

the developing liver to decreased dosage of JAG1 protein

10/27 Novoseek disease relationships for JAG1 gene (see all 27 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
alagille syndrome	97.80	125	11861489 (6), 11745040 (4), 12244552 (3), 17949281 (3) (see all 63)
pfic3	79.32	1	17241866 (1)
byler disease	72.17	1	17241866 (1)
developmental disabilities	64.97	3	17366661 (1), 10075489 (1), 10220506 (1)
cholestasis intrahepatic	60.45	3	10220506 (1), 17241866 (1)
pulmonary valve stenosis	60.00	3	10213047 (1), 12649809 (1), 12372254 (1)
biliary atresia, extrahepatic	52.27	1	12297837 (1)
cadasil	51.91	1	10075489 (1)
cholestasis	51.45	3	15768832 (1), 10975791 (1), 15389319 (1)
heart defects congenital	43.23	4	10213047 (4)

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GeneTests: JAG1

Alagille Syndrome

Human Gene Mutation Database: JAG1
Genetic Association Database: JAG1
Human Genome Epidemiology Navigator: JAG1 (6 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/197 PubMed articles for JAG1 gene (see all 197 ):

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. (PubMed id 9207788)^{1, 2, 3, 4} 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, 3, 4} 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, 3, 4} Krantz I.D....Spinner N.B. (1998)
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (PubMed id 12497640)^{1, 3, 4} 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, 3, 4} 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, 3, 6} McElhinney D.B....Goldmuntz E. (2002)
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. (PubMed id 11180599)^{1, 3, 4} Colliton R.P....Spinner N.B. (2001)
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. (PubMed id 11058898)^{1, 3, 4} Heritage M.L....Anderson G.J. (2000)
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. (PubMed id 11157803)^{1, 3, 4} 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, 3, 4} Oda T.... Chandrasekharappa S.C. (1997)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 182	HGNC: 6188	AceView: JAG1	Ensembl:ENSG00000101384	euGenes: HUgn182
ECgene: JAG1	H-InvDB: JAG1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for JAG1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=JAG1

Licensable Technologies for JAG1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for JAG1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
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Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for JAG1-related products

	Millipore Custom Antibody & Bulk Services
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Antibodies & Assays for JAG1 (Jagged1)

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	Antibodies (Jagged1)

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for JAG1

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JAG1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for JAG1

Summaries
for JAG1

Genomic Location
for JAG1

Proteins
for JAG1

Protein Domains/
Families
for JAG1

Gene Function
for JAG1

Pathways & Interactions
for JAG1

Drugs & Compounds
for JAG1

Transcripts
for JAG1

Expression
for JAG1

Orthologs
for JAG1

Paralogs
for JAG1

SNPs/Variants
for JAG1

Disorders & Mutations
for JAG1

Medical News
for JAG1

Publications
for JAG1

Search for JAG1

Genome Databases showing JAG1

Other Databases showing JAG1

Specialized Databases showing JAG1

Licensable Technologies
for JAG1

Services
for JAG1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

JAG1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor JAG1

Summariesfor JAG1

Genomic Locationfor JAG1

Proteinsfor JAG1

Protein Domains/Familiesfor JAG1

Gene Functionfor JAG1

Pathways & Interactionsfor JAG1

Drugs & Compoundsfor JAG1

Transcriptsfor JAG1

Expression for JAG1

Orthologsfor JAG1

Paralogsfor JAG1

SNPs/Variantsfor JAG1

Disorders & Mutationsfor JAG1

Medical Newsfor JAG1

Publicationsfor JAG1

Search for JAG1

Genome Databases showing JAG1

Other Databases showing JAG1

Specialized Databases showing JAG1

Licensable Technologiesfor JAG1

Servicesfor JAG1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for JAG1

Summaries
for JAG1

Genomic Location
for JAG1

Proteins
for JAG1

Protein Domains/
Families
for JAG1

Gene Function
for JAG1

Pathways & Interactions
for JAG1

Drugs & Compounds
for JAG1

Transcripts
for JAG1

Expression
for JAG1

Orthologs
for JAG1

Paralogs
for JAG1

SNPs/Variants
for JAG1

Disorders & Mutations
for JAG1

Medical News
for JAG1

Publications
for JAG1

Licensable Technologies
for JAG1

Services
for JAG1