JAG1 Gene (Protein Coding)

Jagged Canonical Notch Ligand 1

GCID:: GC20M010637

GIFtS:: 51

Genes Participants

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 is involved in signaling processes. 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, Nov 2019... See more...

Aliases for JAG1 Gene

Jagged Canonical Notch Ligand 1 ² ³ ⁵
HJ1 ² ³ ⁴
Protein Jagged-1 ³ ⁴
CD339 ² ³
JAGL1 ³ ⁴
AHD ² ³
AWS ² ³

Alagille Syndrome ²
CD339 Antigen ⁴
Jagged 1 ²
Jagged1 ⁴
AGS1 ³
DCHE ³
JAG1 ⁵
AGS ³

External Ids for JAG1 Gene

HGNC: 6188
NCBI Entrez Gene: 182
Ensembl: ENSG00000101384
OMIM®: 601920
UniProtKB/Swiss-Prot: P78504

Previous HGNC Symbols for JAG1 Gene

AGS
JAGL1

Previous GeneCards Identifiers for JAG1 Gene

GC20M010606
GC20M010613
GC20M010566
GC20M010618
GC20M010569

Search aliases for JAG1 gene in PubMed and other databases

Summaries for JAG1 Gene

Entrez Gene Summary for JAG1 Gene

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 is involved in signaling processes. 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, Nov 2019]

GeneCards Summary for JAG1 Gene

JAG1 (Jagged Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with JAG1 include Alagille Syndrome 1 and Tetralogy Of Fallot. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is JAG2.

UniProtKB/Swiss-Prot Summary for JAG1 Gene

Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). 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).
- JAG1_HUMAN,P78504

Gene Wiki entry for JAG1 Gene

Additional gene information for JAG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JAG1 Gene

Genomics for JAG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

Promoters and enhancers for JAG1 Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH20J010663	Promoter/Enhancer	2.6	EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER	257.8	+4.3	4342	12.7	ZBTB10 SP1 BCL11A MXD4 CEBPA MNT ZFP64 CTCF ELF1 ZIC2	JAG1 LINC02871 ENSG00000270792 lnc-MKKS-12 lnc-SLX4IP-1 lnc-SLX4IP-3 SLX4IP
GH20J011216	Enhancer	0.9	Ensembl ENCODE	18.3	-543.8	-543802	3.6	HOMEZ FOXA2 ETV4 RARA TEAD3 THRB ZNF24 CTCF TCF7 HDGF	HSALNG0128659 JAG1 lnc-JAG1-10 lnc-SLX4IP-39 BTBD3
GH20J010552	Enhancer	1.5	Ensembl ENCODE CraniofacialAtlas dbSUPER	10.9	+119.4	119398	11.6	SP1 BCL11A CEBPA ZNF217 CTCF ZIC2 HOMEZ THAP11 REST GABPA	MKKS JAG1 SLX4IP SNAP25 HSALNG0128619 RF00017-3519
GH20J010590	Enhancer	1.4	FANTOM5 Ensembl ENCODE dbSUPER	10.6	+78.8	78807	9.2	BCL11A CEBPA ELF1 ZIC2 HOMEZ CEBPB ZNF511 FOXA2 MAX IRF4	ENSG00000235036 JAG1 HSALNG0128620 RF00017-3519 HSALNG0128619 SLX4IP
GH20J010564	Enhancer	1.3	Ensembl ENCODE dbSUPER	10.9	+108.4	108443	3.9	CHD2 MXD4 CEBPA ZFP64 HOMEZ KDM6A THAP11 RAD51 FOXA2 ZNF511	ENSG00000235036 JAG1 RF00017-3519 HSALNG0128619 SLX4IP

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAG1

Top Transcription factor binding sites by QIAGEN in the JAG1 gene promoter:

AREB6
CUTL1
FOXL1
Gfi-1
HNF-3beta
HTF
NF-1
p53
SEF-1 (1)
STAT5A

Genomic Locations for JAG1 Gene

Latest Assembly

chr20:10,637,684-10,673,999: (GRCh38/hg38)

Size:: 36,316 bases
Orientation:: Minus strand

Previous Assembly

chr20:10,618,332-10,654,647: (GRCh37/hg19 by Entrez Gene)

Size:: 36,316 bases
Orientation:: Minus strand

chr20:10,618,332-10,654,694: (GRCh37/hg19 by Ensembl)

Size:: 36,363 bases
Orientation:: Minus strand

Genomic View for JAG1 Gene

Genes around JAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

20p12.2 by HGNC
20p12.2 by Entrez Gene
20p12.2 by Ensembl

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

Genomic Location for JAG1 Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for JAG1 Gene

NC_000020.11

Proteins for JAG1 Gene

Protein details for JAG1 Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

P78504-JAG1_HUMAN

Recommended name:

Protein jagged-1

Protein Accession:

P78504

Secondary Accessions:
- A0AV43
- B4DYR1
- E9PCF9
- O14902
- O15122
- Q15816
Protein attributes for JAG1 Gene
Size:

1218 amino acids

Molecular mass:

133799 Da
Quaternary structure:
Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions) (PubMed:18660822).
SequenceCaution:
Sequence=AAC51323.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for JAG1 Gene
- 2KB9 (3D)
- 2VJ2 (3D)
- 4CBZ (3D)
- 4CC0 (3D)
- 4CC1 (3D)
- 4XI7 (3D)
Alternative splice isoforms for JAG1 Gene
UniProtKB/Swiss-Prot:
P78504-1

P78504-2

neXtProt entry for JAG1 Gene

Protein Expression for JAG1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for JAG1 Gene

Glycosylation at Asn217, Asn143, Asn382, Asn559, Asn585, Asn745, Asn960, Asn991, Asn1045, and Asn1064
- NX_P78504 (NX_P78504-1)
Ubiquitination at Lys1123
- NX_P78504 (NX_P78504-1)
Modification sites at PhosphoSitePlus
- P78504

Other Protein References for JAG1 Gene

ENSEMBL proteins:

REFSEQ proteins:

NP_000205.1

Antibodies for research

LifeSpan BioSciences JAG1 / Jagged 1 Antibody (LS-B2442) and JAG1 / Jagged 1 Antibody (LS-B11020)

G Biosciences Immunotag™ JAG1 Antibody

HUABIO Recombinant Jagged1 Monoclonal Antibody (ET1702-63) and Jagged 1 Antibody (R1706-10)

OriGene Antibodies for JAG1
- AP08812PU-N
- AP52261PU-N
- CF807944
- CF807945
- TA319134
- TA326300
- TA349128
- TA351307
- TA807944
- TA807944S
- TA807945
- TA807945S
Custom Antibody Services

Novus Biologicals Antibodies for JAG1

Abcam antibodies for JAG1
- Jagged1

Invitrogen Antibodies for JAG1 (AFLGC-JAG1)

Biorbyt antibodies for JAG1

Boster Bio Antibodies for JAG1
- A00640

ProSci Antibodies for JAG1
Custom Antibody Services

Santa Cruz Biotechnology (SCBT) Antibodies for JAG1
- Jagged1 (E-12)

Sino Biological Antibodies for JAG1

Protein products for research

G Biosciences Human Jagged-1/JAG1, Lyophilized

Recombinant Human Jagged 1 Fc Chimera Protein, CF (1277-JG)

OriGene Purified Proteins for JAG1
- NM_000214
- NM_000214
- NM_000214
- NM_000214
- NM_013822
Search Origene for MassSpec and Protein Over-expression Lysates for JAG1
Origene Custom Protein Services for JAG1

Novus Biologicals proteins and lysates for JAG1

Sino Biological Recombinant Proteins for JAG1
Sino Biological Cell Lysates for JAG1

Browse ProSpec Recombinant Proteins

antibodies-online: Show 28 available JAG1 Proteins ranked by validation data
Compare Top JAG1 Proteins

ProSci Proteins for JAG1

Abcam proteins for JAG1
- Jagged1

Assay products for research

G Biosciences Immunotag™ Protein jagged-1 ELISA Kit

RayBiotech Human Jagged 1 ELISA

Human Jagged 1 DuoSet ELISA (DY1277-05)

antibodies-online: Show 28 available JAG1 Elisa Kits ranked by validation data
Compare Top JAG1 Elisa Kits
Quality Products:

Browse Boster Bio ELISA Kits

Browse Sino Biological Assays

No data available for DME Specific Peptides for JAG1 Gene

Domains & Families for JAG1 Gene

Gene Families for JAG1 Gene

HGNC:

Human Protein Atlas (HPA):

CD markers
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Protein Domains for JAG1 Gene

InterPro:

Blocks:

Aspartic acid and asparagine hydroxylation site
Type II EGF-like signature
Delta/Serrate/lag-2 (DSL) protein
EGF-like calcium-binding
Notch ligand, N-terminal

ProtoNet:

P78504

Suggested Antigen Peptide Sequences for JAG1 Gene

GenScript: Design optimal peptide antigens:

cDNA FLJ51576, highly similar to Jagged-1 (B4DYR1_HUMAN)
Jagged 1 (B5M914_HUMAN)
Jagged 1 (B7U6M8_HUMAN)
Jagged 1 (B7U6M9_HUMAN)
Protein jagged-1 (JAG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78504

UniProtKB/Swiss-Prot:

JAG1_HUMAN :

The second EGF-like domain is atypical.

Domain:

The second EGF-like domain is atypical.

Function for JAG1 Gene

Molecular function for JAG1 Gene

UniProtKB/Swiss-Prot Function:

Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). 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).

JAG1_HUMAN,P78504

GENATLAS Biochemistry:

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

JAG1

LifeMap Function Summary for JAG1 Gene

During embryonic development, JAG1 as signaling molecule is secreted from the following cells

Kidney
- Distal Renal Vesicle Cells (Renal Vesicle)
- Proximal Renal Vesicle Cells (Renal Vesicle)
Liver
- Pericytes (Sinusoids)

It affects the following cells:

Liver
- Hepatoblasts (Liver Bud)
- Immature Biliary Epithelial Cells (Intrahepatic Biliary Tree)

Phenotypes From GWAS Catalog for JAG1 Gene

Gene Ontology (GO) - Molecular Function for JAG1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005112	Notch binding	IBA,NAS	9268641
GO:0005198	structural molecule activity	NAS	10679295
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	18660822
GO:0005543	phospholipid binding	IMP	22465068

Phenotypes for JAG1 Gene

MGI mutant phenotypes for JAG1:

inferred from 16 alleles

GenomeRNAi human phenotypes for JAG1:

Human Phenotype Ontology for JAG1 Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for JAG1 Gene

MGI Knock Outs for JAG1:

Jag1 ^{Jag1<tm1.1Vtlr>}
Jag1 ^{Jag1<tm1Grid>}
Jag1 ^{Jag1<tm2.1Grid>}

Animal Models for research

Taconic Biosciences Mouse Models for JAG1
- Floxed Jagged1 Mouse

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for JAG1 - Starting at $85 >
* JAG1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for JAG1
- GA100128
- GA202228
- KN210516
- KN210516BN
- KN210516LP
- KN210516RB
- KN308537
- KN308537BN
- KN308537LP
- KN308537RB
- KN410516
- KN508537

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JAG1

Santa Cruz Biotechnology (SCBT) CRISPR for JAG1

miRNA for JAG1 Gene

miRTarBase miRNAs that target JAG1

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for JAG1

Browse OriGene miRNA Products For JAG1

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for JAG1
Browse OriGene Inhibitory RNA Products For JAG1

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAG1

Search Santa Cruz Biotechnology (SCBT) for JAG1 siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for JAG1 - Starting at $45 >
* JAG1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for JAG1
- SC216583
- MC223960
- RN203938
- SC120058
OriGene ORF clones in human,mouse,rat for JAG1
- MR212152
- MR212152L3
- MR212152L4
- RC210516
- RC210516L1
- RC210516L2
- RC210516L3
- RC210516L4
- RG210516
- RR203938
- MR212152L3V
- MR212152L4V
- RC210516L1V
- RC210516L2V
- RC210516L3V
- RC210516L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for JAG1

Addgene plasmids for JAG1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JAG1

Human Jagged 1 (NP_000205) VersaClone cDNA (RDC0722)

Cell Lines for research

ESI BIO PureStem ES-209, Meso-prx/latp Progenitor for JAG1

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for JAG1

Horizon Cell Lines for JAG1
- JAG1 knockout cell line
- JAG1 knockout cell line

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JAG1 Gene

Localization for JAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAG1 Gene

Membrane. Single-pass type I membrane protein.

P78504-JAG1_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
plasma membrane	5
extracellular	5
cytoskeleton	3
nucleus	3
golgi apparatus	3
mitochondrion	2
endoplasmic reticulum	2
endosome	2
cytosol	2
lysosome	2
peroxisome	1

Subcellular locations from the

Human Protein Atlas (HPA)

Golgi apparatus (2)
Plasma membrane (2)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for JAG1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	11427524
GO:0005886	plasma membrane	IEA,TAS	--
GO:0005887	integral component of plasma membrane	NAS	11427524
GO:0005912	adherens junction	IEA,ISS	--
GO:0016020	membrane	IMP,TAS	9268641

Pathways & Interactions for JAG1 Gene

SuperPathways for JAG1 Gene

	SuperPathway	Contained pathways
1	Signaling by NOTCH1	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants .78 Constitutive Signaling by NOTCH1 PEST Domain Mutants .78 Signaling by NOTCH1 .78 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer .78 Signaling by NOTCH1 in Cancer .78	Signaling by NOTCH1 PEST Domain Mutants in Cancer .78 Signaling by NOTCH .65 Signaling by NOTCH3 .01 Signaling by NOTCH4 .01
2	NOTCH2 Activation and Transmission of Signal to the Nucleus	NOTCH2 Activation and Transmission of Signal to the Nucleus .64 Signaling by NOTCH2 .64 Activated NOTCH1 Transmits Signal to the Nucleus .58 Constitutive Signaling by NOTCH1 HD Domain Mutants .57	Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant .47 Signaling by NOTCH1 HD Domain Mutants in Cancer .01 Signaling by NOTCH1 t(7;9)(NOTCH1-M1580_K2555) Translocation Mutant .01
3	Notch Signaling Pathway (WikiPathways)	Notch signaling pathway .75 Notch Signaling Pathway .75 Notch Signaling Pathway .41	Notch signaling pathway .36 Notch Signaling Pathways .31
4	HIV Life Cycle	Disease .45	Diseases of signal transduction .43
5	Development NOTCH1-mediated pathway for NF-KB activity modulation	Development Notch Signaling Pathway .55	Development NOTCH1-mediated pathway for NF-KB activity modulation .55

Pathways by source for JAG1 Gene

1 Sino Biological pathway for JAG1 Gene

Notch Signaling Pathway

7 BioSystems pathways for JAG1 Gene

19 Reactome pathways for JAG1 Gene

8 KEGG pathways for JAG1 Gene

2 GeneGo (Thomson Reuters) pathways for JAG1 Gene

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

2 R&D Systems pathways for JAG1 Gene

2 Cell Signaling Technology pathways for JAG1 Gene

Interacting Proteins for JAG1 Gene

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

Selected Interacting proteins: P78504-JAG1_HUMAN ENSP00000254958 for JAG1 Gene via UniProtKB MINT STRING IID

Symbol	External ID(s)	Details
CALR	P27797 ²⁰ ¹²⁶ ENSP00000320866 ²¹	MINT-8361140 STRING: ENSP00000320866 IID: # exp=1
CANX	P27824 ²⁰ ¹²⁶ ENSP00000247461 ²¹	MINT-8361140 STRING: ENSP00000247461 IID: # exp=1
CD46	P15529 ⁴ ¹²⁶ ENSP00000313875 ²¹	EBI-2847071, EBI-2623451 STRING: ENSP00000313875 IID: # exp=1
NOTCH3	Q9UM47 ²⁰ ¹²⁶ ENSP00000263388 ²¹	MINT-8360953 STRING: ENSP00000263388 IID: # exp=4 # pred=4
ACVRL1	ENSP00000373574 ²¹ P37023 ¹²⁶	STRING: ENSP00000373574 IID: # pred=1

GPS-Prot Interaction Network for JAG1

SIGNOR curated interactions for JAG1 Gene

Activates:

Is activated by:

Is inactivated by:

LFNG

Gene Ontology (GO) - Biological Process for JAG1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	NAS	8955070
GO:0001709	cell fate determination	NAS	9207788
GO:0001953	negative regulation of cell-matrix adhesion	IDA	11549580
GO:0001974	blood vessel remodeling	IEA	--
GO:0002011	morphogenesis of an epithelial sheet	IEA	--

Drugs & Compounds for JAG1 Gene

(1) Drugs for JAG1 Gene - From: Novoseek

Name	Status	Disease Links	Group	Role	Mechanism of Action	Clinical Trials

Drug products for research

G Biosciences Human Jagged-1/JAG1, Lyophilized

Browse Tocris compounds for JAG1

Browse compounds at ApexBio

Transcripts for JAG1 Gene

mRNA/cDNA for JAG1 Gene

1 REFSEQ mRNAs :

NM_000214.3

16 NCBI additional mRNA sequence :

9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000254958 5940 nts (view in UCSC)
ENST00000423891 3758 nts (view in UCSC)
ENST00000488480 1161 nts (view in UCSC)
ENST00000612857 586 nts (view in UCSC)
ENST00000613518 597 nts (view in UCSC)

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for JAG1 - Starting at $85 >
* JAG1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for JAG1
- GA100128
- GA202228
- KN210516
- KN210516BN
- KN210516LP
- KN210516RB
- KN308537
- KN308537BN
- KN308537LP
- KN308537RB
- KN410516
- KN508537

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JAG1

Santa Cruz Biotechnology (SCBT) CRISPR for JAG1

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for JAG1

Browse OriGene miRNA Products For JAG1

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for JAG1
Browse OriGene Inhibitory RNA Products For JAG1

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAG1

Search Santa Cruz Biotechnology (SCBT) for JAG1 siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for JAG1 - Starting at $45 >
* JAG1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for JAG1
- SC216583
- MC223960
- RN203938
- SC120058
OriGene ORF clones in human,mouse,rat for JAG1
- MR212152
- MR212152L3
- MR212152L4
- RC210516
- RC210516L1
- RC210516L2
- RC210516L3
- RC210516L4
- RG210516
- RR203938
- MR212152L3V
- MR212152L4V
- RC210516L1V
- RC210516L2V
- RC210516L3V
- RC210516L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for JAG1

Addgene plasmids for JAG1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JAG1

Human Jagged 1 (NP_000205) VersaClone cDNA (RDC0722)

Alternative Splicing Database (ASD) splice patterns (SP) for JAG1 Gene

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:																																											-
SP6:
SP7:																																											-
SP8:
SP9:

ExUns:	19b	^	20	^	21a	·	21b	^	22	^	23	^	24	^	25a	·	25b	·	25c	^	26	^	27a	·	27b	·	27c
SP1:	-														-
SP2:	-		-		-
SP3:															-				-
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for JAG1 Gene

GeneLoc Exon Structure for: JAG1

Expression for JAG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JAG1 Gene

mRNA expression in normal human tissues for JAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Primitive Streak (Early Embryonic Tissues)
- Notochord Cells Notochord
Cartilage (Muscoskeletal System)
- Notochord Cells Notochord

mRNA differential expression in normal tissues according to GTEx for JAG1 Gene

This gene is overexpressed in Artery - Tibial (x5.1).

Protein differential expression in normal tissues from HIPED for JAG1 Gene

This gene is overexpressed in Amniocyte (40.1), Plasma (14.5), and Gallbladder (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for JAG1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MaxQB, and MOPED for JAG1 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for JAG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JAG1

SOURCE GeneReport for Unigene cluster for JAG1 Gene:

Hs.626544

mRNA Expression by UniProt/SwissProt for JAG1 Gene:

P78504-JAG1_HUMAN

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.

Evidence on tissue expression from TISSUES for JAG1 Gene

Nervous system(4.8)
Heart(4.6)
Bone marrow(4.5)
Lung(3.9)
Muscle(3.2)
Kidney(3.1)
Skin(3)
Intestine(2.9)
Spleen(2.8)
Liver(2.8)
Eye(2.7)
Lymph node(2.4)
Blood(2.4)
Stomach(2.3)
Gall bladder(2.3)
Pancreas(2.3)
Thyroid gland(2.2)
Bone(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JAG1 Gene

Germ Layers:

ectoderm
endoderm
mesoderm

Systems:

cardiovascular
digestive
endocrine
immune
integumentary
nervous
reproductive
respiratory
skeletal muscle
skeleton
urinary

Regions:

Head and neck:

brain
cheek
chin
cranial nerve
ear
eye
eyelid
face
forehead
head
jaw
lip
mandible
maxilla
mouth
neck
nose
outer ear
pituitary gland
salivary gland
skull
thyroid
tooth

Thorax:

aorta
breast
chest wall
esophagus
heart
heart valve
lung
rib
rib cage

Abdomen:

biliary tract
duodenum
intestine
kidney
liver
pancreas
small intestine
spleen

Pelvis:

anus
penis
testicle
ureter
urethra
urinary bladder

Limb:

arm
digit
femur
fibula
finger
foot
forearm
hand
lower limb
nail
shin
thigh
tibia
toe
ulna
upper limb

General:

blood
blood vessel
coagulation system
peripheral nerve
peripheral nervous system
skin
spinal column
spinal cord
vertebrae

Primer products for research

OriGene qPCR primer pairs for JAG1
- HP200198
- MP206882
OriGene qPCR primer pairs and template standards for JAG1
- HK208279

Gene Expression Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for JAG1

No data available for Protein tissue co-expression partners for JAG1 Gene

Orthologs for JAG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for JAG1 Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
Chimpanzee (Pan troglodytes)	Mammalia	JAG1 ³⁰ ³¹	99.34 (n)	OneToOne	748073 XM_001169666.2 XP_001169666.1 20:10522288-10558448
Dog (Canis familiaris)	Mammalia	JAG1 ³⁰ ³¹	91.82 (n)	OneToOne	485769 XM_005634783.1 XP_005634840.1 24:11657442-11694554
Oppossum (Monodelphis domestica)	Mammalia	JAG1 ³¹	91 (a)	OneToOne	1:614424011-614461225
Rat (Rattus norvegicus)	Mammalia	Jag1 ³⁰	90.5 (n)		29146 NM_019147.1 NP_062020.1
Mouse (Mus musculus)	Mammalia	Jag1 ³⁰ ¹⁷ ³¹	90.2 (n)	OneToOne	16449 NM_013822.5 NP_038850.1 137081451 2:137081456-137116644
Platypus (Ornithorhynchus anatinus)	Mammalia	JAG1 ³¹	90 (a)	OneToOne	Ultra56:12062051-12108626
Cow (Bos Taurus)	Mammalia	JAG1 ³⁰ ³¹	89.76 (n)	OneToOne	783681 NM_001191178.1 NP_001178107.1 13:3832286-3876681
Chicken (Gallus gallus)	Aves	JAG1 ³⁰ ³¹	80.54 (n)	OneToOne	396043 XM_415035.4 XP_415035.4 3:12844082-12878172
Lizard (Anolis carolinensis)	Reptilia	JAG1 ³¹	85 (a)	OneToOne	1:134088085-134145112
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	jag1 ³⁰	78.14 (n)		100486874 XM_002931738.2 XP_002931784.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.11956 ³⁰			AB027537.1
Zebrafish (Danio rerio)	Actinopterygii	jag1b ³⁰ ³¹	72.04 (n)	OneToMany	140423 NM_131863.1 NP_571938.1 13:35560774-35611687
		jag1a ³¹	66 (a)	OneToMany	1:51614688-51667364
		jag3 ³⁰			140423 AF229451.1
African malaria mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP004154 ³⁰	49.8 (n)		1273981 XM_313038.5 XP_313038.5
Fruit Fly (Drosophila melanogaster)	Insecta	Ser ³⁰ ³¹ ³²	46.42 (n)	OneToMany	43275 NM_079803.2 NP_524527.3 3R:22997818-23019716
		Dl ³²	41 (a)
		SP1070 ³²	37 (a)
		CG15388 ³²	36 (a)
		C901 ³²	34 (a)
Worm (Caenorhabditis elegans)	Secernentea	W02C12.1 ³²	36 (a)
		apx-1 ³²	35 (a)
		F55H12.3 ³²	28 (a)
		Y69H2.11 ³²	28 (a)
		Y69H2.2 ³²	27 (a)
		Y69H2.12 ³²	26 (a)
		glp-1 ³¹	17 (a)	ManyToMany	III:9092241-9099683
Sea Squirt (Ciona savignyi)	Ascidiacea	-- ³¹	36 (a)	OneToMany	reftig_13:1628855-1660977

Species where no ortholog for JAG1 was found in the sources mined by GeneCards:

A. gosspyii yeast (Eremothecium gossypii)
Actinobacteria (Mycobacterium tuberculosis)
Alicante grape (Vitis vinifera)
Alpha proteobacteria (Wolbachia pipientis)
Amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
Baker's yeast (Saccharomyces cerevisiae)
Barley (Hordeum vulgare)
Beta proteobacteria (Neisseria meningitidis)
Bread mold (Neurospora crassa)
Chromalveolata (Phytophthora infestans)
Common water flea (Daphnia pulex)
Corn (Zea mays)
E. coli (Escherichia coli)
Filamentous fungi (Aspergillus nidulans)
Firmicute Bacteria (Streptococcus pneumoniae)
Fission Yeast (Schizosaccharomyces pombe)
Green Algae (Chlamydomonas reinhardtii)
Honey Bee (Apis mellifera)
K. Lactis Yeast (Kluyveromyces lactis)
Loblloly Pine (Pinus taeda)
Malaria Parasite (Plasmodium falciparum)
Medicago Trunc (Medicago Truncatula)
Moss (Physcomitrella patens)
Orangutan (Pongo pygmaeus)
Pig (Sus scrofa)
Rainbow Trout (Oncorhynchus mykiss)
Rice (Oryza sativa)
Rice Blast Fungus (Magnaporthe grisea)
Schistosome Parasite (Schistosoma mansoni)
Sea Anemone (Nematostella vectensis)
Sea Vase (Ciona intestinalis)
Sea Urchin (Strongylocentrotus purpuratus)
Sorghum (Sorghum bicolor)
Soybean (Glycine max)
Stem Rust Fungus (Puccinia graminis)
Sugarcane (Saccharum officinarum)
Thale Cress (Arabidopsis thaliana)
Tomato (Lycopersicon esculentum)
Toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)
Wheat (Triticum aestivum)

Evolution for JAG1 Gene

ENSEMBL:: Gene Tree for JAG1 (if available)
TreeFam:: Gene Tree for JAG1 (if available)
Aminode:: Evolutionary constrained regions (ECRs) for JAG1: view image

Paralogs for JAG1 Gene

JAG2 ⁵
DLL1 ⁵
DLL4 ⁵
NOTCH4 ⁵
DNER ⁵

(12) SIMAP similar genes for JAG1 Gene using alignment to 6 proteins:

JAG1_HUMAN
B4DYR1_HUMAN
B5M914_HUMAN
B7U6M8_HUMAN
B7U6M9_HUMAN
Q4KMR2_HUMAN

Variants for JAG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAG1 Gene

SNP ID	Clinical significance and condition	Chr 20 pos	Variation	Type
830218	Pathogenic: Alagille syndrome 1	10,649,077(-)	TTC/T NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer)	FRAMESHIFT
834783	Pathogenic: Alagille syndrome 1	10,647,960(-)	C/A NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)	MISSENSE
838922	Uncertain Significance: Alagille syndrome 1	10,644,350(-)	CACTT/C NM_000214.3(JAG1):c.2372+3_2372+6del	SPLICE_DONOR
841851	Uncertain Significance: Alagille syndrome 1	10,658,608(-)	A/T NM_000214.3(JAG1):c.554T>A (p.Val185Glu)	MISSENSE
841934	Uncertain Significance: Alagille syndrome 1	10,641,584(-)	G/A NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)	MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JAG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for JAG1 Gene

Variant ID	Type	Subtype	PubMed ID
nsv3291	CNV	insertion	18451855
nsv522874	CNV	loss	19592680
nsv833920	CNV	gain	17160897

Variation tolerance for JAG1 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 4.73; 66.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JAG1 Gene

Human Gene Mutation Database (HGMD): JAG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for: JAG1

SNP Genotyping and Copy Number Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for JAG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAG1 Gene

Disorders for JAG1 Gene

(49) MalaCards diseases for JAG1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder	Aliases	PubMed IDs
alagille syndrome 1	algs1	9207787
tetralogy of fallot	tof
deafness, congenital heart defects, and posterior embryotoxon	dche	12022040
heart disease	congenital heart disease
heart, malformation of

- elite association - COSMIC cancer census association via MalaCards

Search JAG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAG1_HUMAN

Alagille syndrome 1 (ALGS1) [MIM:118450]: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined 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. {ECO:0000269 PubMed:10220506, ECO:0000269 PubMed:10533065, ECO:0000269 PubMed:11058898, ECO:0000269 PubMed:11139247, ECO:0000269 PubMed:11157803, ECO:0000269 PubMed:11180599, ECO:0000269 PubMed:12442286, ECO:0000269 PubMed:12497640, ECO:0000269 PubMed:15712272, ECO:0000269 PubMed:16575836, ECO:0000269 PubMed:20437614, ECO:0000269 PubMed:23801938, ECO:0000269 PubMed:9207788, ECO:0000269 PubMed:9585603}. Note=The disease is caused by variants affecting the gene represented in this entry.
Tetralogy of Fallot (TOF) [MIM:187500]: 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. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269 PubMed:11152664, ECO:0000269 PubMed:20437614}. Note=The disease is caused by variants affecting the gene represented in this entry.
Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. {ECO:0000269 PubMed:12022040, ECO:0000269 PubMed:20437614}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for JAG1

Genetic Association Database: (GAD)
Human Genome Epidemiology Navigator: (HuGE)
Atlas: ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform: Open Targets Platform

Search disorders for JAG1 gene in PubMed and other databases

No data available for Genatlas for JAG1 Gene

Publications for JAG1 Gene

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. (PMID: 20437614) Bauer RC … Spinner NB (Human mutation 2010) ³ ⁴ ²³ ⁴¹ ⁷⁴
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. (PMID: 20096396) Kung AW … Sham PC (American journal of human genetics 2010) ³ ²³ ⁴¹
Exon 6 of human JAG1 encodes a conserved structural unit. (PMID: 19586525) Pintar A … Pongor S (BMC structural biology 2009) ³ ⁴ ²³
Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy. (PMID: 17368936) Ungaro C … Mazzei R (Neuroscience letters 2007) ³ ²³ ⁴¹
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. (PMID: 16575836) Warthen DM … Spinner NB (Human mutation 2006) ³ ⁴ ²³