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Protein

Protein jagged-1

Gene

JAG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • growth factor activity Source: UniProtKB
  • Notch binding Source: UniProtKB
  • phospholipid binding Source: CAFA
  • structural molecule activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processNotch signaling pathway
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2660826 Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
R-HSA-2691232 Constitutive Signaling by NOTCH1 HD Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P78504

SIGNOR Signaling Network Open Resource

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SIGNORi
P78504

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein jagged-1
Short name:
Jagged1
Short name:
hJ1
Alternative name(s):
CD_antigen: CD339
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:JAG1
Synonyms:JAGL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000101384.11

Human Gene Nomenclature Database

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HGNCi
HGNC:6188 JAG1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601920 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P78504

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini34 – 1067ExtracellularSequence analysisAdd BLAST1034
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1068 – 1093HelicalSequence analysisAdd BLAST26
Topological domaini1094 – 1218CytoplasmicSequence analysisAdd BLAST125

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alagille syndrome 1 (ALGS1)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:118450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02629622 – 25Missing in ALGS1. 1 Publication4
Natural variantiVAR_02629731A → V in ALGS1. 1 Publication1
Natural variantiVAR_02629833G → D in ALGS1. 1 Publication1
Natural variantiVAR_02629933G → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs876661123EnsemblClinVar.1
Natural variantiVAR_02630033G → V in ALGS1. 1 Publication1
Natural variantiVAR_01318637L → S in ALGS1; the mutant is unable to activate Notch signaling. 3 PublicationsCorresponds to variant dbSNP:rs121918352EnsemblClinVar.1
Natural variantiVAR_02630139I → S in ALGS1. 1 Publication1
Natural variantiVAR_02630240L → P in ALGS1. 1 Publication1
Natural variantiVAR_02630675F → S in ALGS1. 1 Publication1
Natural variantiVAR_02630778C → S in ALGS1. 1 Publication1
Natural variantiVAR_01318779L → H in ALGS1. 1 Publication1
Natural variantiVAR_02630892C → R in ALGS1. 1 Publication1
Natural variantiVAR_02630992C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026310120I → N in ALGS1. 1 Publication1
Natural variantiVAR_026311123P → S in ALGS1. 1 Publication1
Natural variantiVAR_013188127A → T in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs930247415Ensembl.1
Natural variantiVAR_013189129P → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs1032920906Ensembl.1
Natural variantiVAR_013190152I → T in ALGS1. 1 Publication1
Natural variantiVAR_026312155A → P in ALGS1. 1 Publication1
Natural variantiVAR_013191163P → L in ALGS1. 1 Publication1
Natural variantiVAR_026313163P → R in ALGS1. 1 Publication1
Natural variantiVAR_026314181Y → N in ALGS1. 1 Publication1
Natural variantiVAR_013192184R → C in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918350EnsemblClinVar.1
Natural variantiVAR_013193184R → G in ALGS1. 1 Publication1
Natural variantiVAR_013194184R → H in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918351EnsemblClinVar.1
Natural variantiVAR_013195184R → L in ALGS1. 1 Publication1
Natural variantiVAR_013196187C → S in ALGS1. 1 Publication1
Natural variantiVAR_026315187C → Y in ALGS1. 1 Publication1
Natural variantiVAR_013197220C → F in ALGS1. 1 Publication1
Natural variantiVAR_026317224W → C in ALGS1. 1 Publication1
Natural variantiVAR_013198229C → G in ALGS1. 1 Publication1
Natural variantiVAR_013199229C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026319252R → G in ALGS1. 1 Publication1
Natural variantiVAR_026320256G → S in ALGS1. 1 Publication1
Natural variantiVAR_026321269P → L in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs797044956EnsemblClinVar.1
Natural variantiVAR_026322271C → R in ALGS1. 1 Publication1
Natural variantiVAR_013201284C → F in ALGS1. 1 Publication1
Natural variantiVAR_013202288W → C in ALGS1. 1 Publication1
Natural variantiVAR_013203386G → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs863223650EnsemblClinVar.1
Natural variantiVAR_071513436C → W in ALGS1. 1 Publication1
Natural variantiVAR_013204438C → F in ALGS1. 1 Publication1
Natural variantiVAR_026323504N → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs527236046EnsemblClinVar.1
Natural variantiVAR_026325693C → Y in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs566563238Ensembl.1
Natural variantiVAR_026326714C → Y in ALGS1. 1 Publication1
Natural variantiVAR_013205731C → S in ALGS1. 1 Publication1
Natural variantiVAR_013206740C → R in ALGS1. 1 Publication1
Natural variantiVAR_013207753C → R in ALGS1. 1 Publication1
Natural variantiVAR_026329889R → Q in ALGS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149419694EnsemblClinVar.1
Natural variantiVAR_026330902C → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs876661122EnsemblClinVar.1
Natural variantiVAR_026332911C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026333913S → R in ALGS1. 1 Publication1
Natural variantiVAR_0263361055 – 1056VR → G in ALGS1. 2
Tetralogy of Fallot (TOF)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:187500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013200274G → D in TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly; unable to activate Notch signaling. 3 PublicationsCorresponds to variant dbSNP:rs28939668EnsemblClinVar.1
Natural variantiVAR_080876810P → L in TOF; the mutant is unable to activate Notch signaling. 1 Publication1
Deafness, congenital heart defects, and posterior embryotoxon (DCHE)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617992
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026318234C → Y in DCHE; the mutant is unable to activate Notch signaling. 2 PublicationsCorresponds to variant dbSNP:rs121918353EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi207F → A: Strongly reduced NOTCH1 binding. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
182

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
JAG1

MalaCards human disease database

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MalaCardsi
JAG1
MIMi118450 phenotype
187500 phenotype
617992 phenotype

Open Targets

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OpenTargetsi
ENSG00000101384

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
261600 Alagille syndrome due to 20p12 microdeletion
261619 Alagille syndrome due to a JAG1 point mutation
3303 Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29986

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3217396

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
JAG1

Domain mapping of disease mutations (DMDM)

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DMDMi
20455033

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 33Sequence analysisAdd BLAST33
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000762534 – 1218Protein jagged-1Add BLAST1185

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi143N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi187 ↔ 196
Disulfide bondi200 ↔ 212
Glycosylationi217N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi220 ↔ 229
Disulfide bondi234 ↔ 245
Disulfide bondi238 ↔ 251
Disulfide bondi253 ↔ 262
Disulfide bondi265 ↔ 276
Disulfide bondi271 ↔ 282
Disulfide bondi284 ↔ 293
Disulfide bondi300 ↔ 312
Disulfide bondi306 ↔ 322
Disulfide bondi324 ↔ 333
Disulfide bondi340 ↔ 351By similarity
Disulfide bondi345 ↔ 360By similarity
Disulfide bondi362 ↔ 371By similarity
Disulfide bondi378 ↔ 389By similarity
Glycosylationi382N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi383 ↔ 398By similarity
Disulfide bondi400 ↔ 409By similarity
Disulfide bondi416 ↔ 427By similarity
Disulfide bondi421 ↔ 436By similarity
Disulfide bondi438 ↔ 447By similarity
Disulfide bondi454 ↔ 464By similarity
Disulfide bondi458 ↔ 473By similarity
Disulfide bondi475 ↔ 484By similarity
Disulfide bondi491 ↔ 502By similarity
Disulfide bondi496 ↔ 511By similarity
Disulfide bondi513 ↔ 522By similarity
Disulfide bondi529 ↔ 540By similarity
Disulfide bondi534 ↔ 549By similarity
Disulfide bondi551 ↔ 560By similarity
Glycosylationi559N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi578 ↔ 605By similarity
Disulfide bondi599 ↔ 615By similarity
Disulfide bondi617 ↔ 626By similarity
Disulfide bondi633 ↔ 644By similarity
Disulfide bondi638 ↔ 653By similarity
Disulfide bondi655 ↔ 664By similarity
Disulfide bondi671 ↔ 682By similarity
Disulfide bondi676 ↔ 691By similarity
Disulfide bondi693 ↔ 702By similarity
Disulfide bondi709 ↔ 720By similarity
Disulfide bondi714 ↔ 729By similarity
Disulfide bondi731 ↔ 740By similarity
Glycosylationi745N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi748 ↔ 759By similarity
Disulfide bondi753 ↔ 768By similarity
Disulfide bondi770 ↔ 779By similarity
Disulfide bondi786 ↔ 797By similarity
Disulfide bondi791 ↔ 806By similarity
Disulfide bondi808 ↔ 817By similarity
Disulfide bondi824 ↔ 835By similarity
Disulfide bondi829 ↔ 844By similarity
Disulfide bondi846 ↔ 855By similarity
Glycosylationi960N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi991N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1045N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1064N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P78504

MaxQB - The MaxQuant DataBase

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MaxQBi
P78504

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P78504

PeptideAtlas

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PeptideAtlasi
P78504

PRoteomics IDEntifications database

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PRIDEi
P78504

ProteomicsDB human proteome resource

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ProteomicsDBi
57626

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P78504

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P78504

SwissPalm database of S-palmitoylation events

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SwissPalmi
P78504

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000101384 Expressed in 237 organ(s), highest expression level in oviduct epithelium

CleanEx database of gene expression profiles

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CleanExi
HS_JAG1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P78504 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P78504 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB010343
HPA021555

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions) (PubMed:18660822).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106689, 9 interactors

Database of interacting proteins

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DIPi
DIP-46371N

Protein interaction database and analysis system

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IntActi
P78504, 11 interactors

Molecular INTeraction database

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MINTi
P78504

STRING: functional protein association networks

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STRINGi
9606.ENSP00000254958

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11218
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

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DisProti
DP00418

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P78504

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P78504

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P78504

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini185 – 229DSLPROSITE-ProRule annotationAdd BLAST45
Domaini230 – 263EGF-like 1PROSITE-ProRule annotationAdd BLAST34
Domaini264 – 294EGF-like 2; atypicalPROSITE-ProRule annotationAdd BLAST31
Domaini296 – 334EGF-like 3PROSITE-ProRule annotationAdd BLAST39
Domaini336 – 372EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini374 – 410EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini412 – 448EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini450 – 485EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini487 – 523EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini525 – 561EGF-like 9PROSITE-ProRule annotationAdd BLAST37
Domaini586 – 627EGF-like 10PROSITE-ProRule annotationAdd BLAST42
Domaini629 – 665EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini667 – 703EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini705 – 741EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini744 – 780EGF-like 14PROSITE-ProRule annotationAdd BLAST37
Domaini782 – 818EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini820 – 856EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST37

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni199 – 207Important for interaction with NOTCH11 Publication9

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The second EGF-like domain is atypical.2 Publications

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
ENOG410XP6K LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113124

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG031645

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P78504

KEGG Orthology (KO)

More...
KOi
K06052

Identification of Orthologs from Complete Genome Data

More...
OMAi
KRSINCK

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0A88

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P78504

TreeFam database of animal gene trees

More...
TreeFami
TF351835

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001774 DSL
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR026219 Jagged/Serrate
IPR011651 Notch_ligand_N
IPR001007 VWF_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01414 DSL, 1 hit
PF00008 EGF, 10 hits
PF07645 EGF_CA, 1 hit
PF12661 hEGF, 1 hit
PF07657 MNNL, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR02059 JAGGEDFAMILY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00051 DSL, 1 hit
SM00181 EGF, 16 hits
SM00179 EGF_CA, 14 hits
SM00214 VWC, 1 hit
SM00215 VWC_out, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 10 hits
PS51051 DSL, 1 hit
PS00022 EGF_1, 16 hits
PS01186 EGF_2, 12 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 8 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P78504-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ
60 70 80 90 100
NGNCCGGARN PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP
110 120 130 140 150
VIGGNTFNLK ASRGNDRNRI VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS
160 170 180 190 200
IIEKASHSGM INPSRQWQTL KQNTGVAHFE YQIRVTCDDY YYGFGCNKFC
210 220 230 240 250
RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP KHGSCKLPGD
260 270 280 290 300
CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC
310 320 330 340 350
GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS
360 370 380 390 400
CKETSLGFEC ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC
410 420 430 440 450
PPQWTGKTCQ LDANECEAKP CVNAKSCKNL IASYYCDCLP GWMGQNCDIN
460 470 480 490 500
INDCLGQCQN DASCRDLVNG YRCICPPGYA GDHCERDIDE CASNPCLNGG
510 520 530 540 550
HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC YNRASDYFCK
560 570 580 590 600
CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG
610 620 630 640 650
PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS
660 670 680 690 700
YKCICSDGWE GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK
710 720 730 740 750
TCHSRDSQCD EATCNNGGTC YDEGDAFKCM CPGGWEGTTC NIARNSSCLP
760 770 780 790 800
NPCHNGGTCV VNGESFTCVC KEGWEGPICA QNTNDCSPHP CYNSGTCVDG
810 820 830 840 850
DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN GYRCVCPPGH
860 870 880 890 900
SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR
910 920 930 940 950
PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS
960 970 980 990 1000
DSYYQDNCAN ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI
1010 1020 1030 1040 1050
ACEPSPSANN EIHVAISAED IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA
1060 1070 1080 1090 1100
AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA WICCLVTAFY WCLRKRRKPG
1110 1120 1130 1140 1150
SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE NKNSKMSKIR
1160 1170 1180 1190 1200
THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ
1210
DNRDLESAQS LNRMEYIV
Length:1,218
Mass (Da):133,799
Last modified:May 2, 2002 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF36EE9FBF64DF162
GO
Isoform 2 (identifier: P78504-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-159: Missing.

Note: No experimental confirmation available.
Show »
Length:1,059
Mass (Da):116,579
Checksum:i4282E9CF97A854D5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXH5A0A087WXH5_HUMAN
Protein jagged-1
JAG1
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X1E8A0A087X1E8_HUMAN
Protein jagged-1
JAG1
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC51323 differs from that shown. Reason: Frameshift at position 1187.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti117R → P in AAB39007 (PubMed:10079256).Curated1
Sequence conflicti227P → R in AAC51731 (PubMed:9268641).Curated1
Sequence conflicti498N → D in AAC51731 (PubMed:9268641).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02629622 – 25Missing in ALGS1. 1 Publication4
Natural variantiVAR_02629731A → V in ALGS1. 1 Publication1
Natural variantiVAR_02629833G → D in ALGS1. 1 Publication1
Natural variantiVAR_02629933G → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs876661123EnsemblClinVar.1
Natural variantiVAR_02630033G → V in ALGS1. 1 Publication1
Natural variantiVAR_01318637L → S in ALGS1; the mutant is unable to activate Notch signaling. 3 PublicationsCorresponds to variant dbSNP:rs121918352EnsemblClinVar.1
Natural variantiVAR_02630139I → S in ALGS1. 1 Publication1
Natural variantiVAR_02630240L → P in ALGS1. 1 Publication1
Natural variantiVAR_02630345V → L in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant dbSNP:rs183974372EnsemblClinVar.1
Natural variantiVAR_02630453N → D in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_02630565K → M in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_02630675F → S in ALGS1. 1 Publication1
Natural variantiVAR_02630778C → S in ALGS1. 1 Publication1
Natural variantiVAR_01318779L → H in ALGS1. 1 Publication1
Natural variantiVAR_02630892C → R in ALGS1. 1 Publication1
Natural variantiVAR_02630992C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026310120I → N in ALGS1. 1 Publication1
Natural variantiVAR_026311123P → S in ALGS1. 1 Publication1
Natural variantiVAR_013188127A → T in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs930247415Ensembl.1
Natural variantiVAR_013189129P → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs1032920906Ensembl.1
Natural variantiVAR_048985146V → I. Corresponds to variant dbSNP:rs6040067EnsemblClinVar.1
Natural variantiVAR_013190152I → T in ALGS1. 1 Publication1
Natural variantiVAR_026312155A → P in ALGS1. 1 Publication1
Natural variantiVAR_013191163P → L in ALGS1. 1 Publication1
Natural variantiVAR_026313163P → R in ALGS1. 1 Publication1
Natural variantiVAR_026314181Y → N in ALGS1. 1 Publication1
Natural variantiVAR_013192184R → C in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918350EnsemblClinVar.1
Natural variantiVAR_013193184R → G in ALGS1. 1 Publication1
Natural variantiVAR_013194184R → H in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918351EnsemblClinVar.1
Natural variantiVAR_013195184R → L in ALGS1. 1 Publication1
Natural variantiVAR_013196187C → S in ALGS1. 1 Publication1
Natural variantiVAR_026315187C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026316203R → K in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_013197220C → F in ALGS1. 1 Publication1
Natural variantiVAR_026317224W → C in ALGS1. 1 Publication1
Natural variantiVAR_013198229C → G in ALGS1. 1 Publication1
Natural variantiVAR_013199229C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026318234C → Y in DCHE; the mutant is unable to activate Notch signaling. 2 PublicationsCorresponds to variant dbSNP:rs121918353EnsemblClinVar.1
Natural variantiVAR_026319252R → G in ALGS1. 1 Publication1
Natural variantiVAR_026320256G → S in ALGS1. 1 Publication1
Natural variantiVAR_026321269P → L in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs797044956EnsemblClinVar.1
Natural variantiVAR_026322271C → R in ALGS1. 1 Publication1
Natural variantiVAR_013200274G → D in TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly; unable to activate Notch signaling. 3 PublicationsCorresponds to variant dbSNP:rs28939668EnsemblClinVar.1
Natural variantiVAR_013201284C → F in ALGS1. 1 Publication1
Natural variantiVAR_013202288W → C in ALGS1. 1 Publication1
Natural variantiVAR_013203386G → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs863223650EnsemblClinVar.1
Natural variantiVAR_071513436C → W in ALGS1. 1 Publication1
Natural variantiVAR_013204438C → F in ALGS1. 1 Publication1
Natural variantiVAR_026323504N → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs527236046EnsemblClinVar.1
Natural variantiVAR_080875664C → S Found in a patient with pulmonary stenosis; unknown pathological significance; the mutant is able to activate Notch signaling. 1 Publication1
Natural variantiVAR_026324690Y → D in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026325693C → Y in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs566563238Ensembl.1
Natural variantiVAR_026326714C → Y in ALGS1. 1 Publication1
Natural variantiVAR_013205731C → S in ALGS1. 1 Publication1
Natural variantiVAR_013206740C → R in ALGS1. 1 Publication1
Natural variantiVAR_013207753C → R in ALGS1. 1 Publication1
Natural variantiVAR_080876810P → L in TOF; the mutant is unable to activate Notch signaling. 1 Publication1
Natural variantiVAR_026327818R → K1 Publication1
Natural variantiVAR_026328871P → R in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant dbSNP:rs35761929EnsemblClinVar.1
Natural variantiVAR_026329889R → Q in ALGS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149419694EnsemblClinVar.1
Natural variantiVAR_026330902C → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs876661122EnsemblClinVar.1
Natural variantiVAR_026331908H → Q in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026332911C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026333913S → R in ALGS1. 1 Publication1
Natural variantiVAR_026334921L → P in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026335937R → Q Benign polymorphism; the mutant is able to activate Notch signaling. 2 PublicationsCorresponds to variant dbSNP:rs145895196EnsemblClinVar.1
Natural variantiVAR_0263361055 – 1056VR → G in ALGS1. 2
Natural variantiVAR_0808771104H → Q Found in patient with tetralogy of Fallot and pulmonary stenosis; unknown pathological significance. 1 Publication1
Natural variantiVAR_0263371213R → Q in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant dbSNP:rs138007561Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0565321 – 159Missing in isoform 2. 1 PublicationAdd BLAST159

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF003837 mRNA Translation: AAC51731.1
U73936 mRNA Translation: AAC52020.1
AF028593 mRNA Translation: AAB84053.1
U61276 mRNA Translation: AAB39007.1
AK302554 mRNA Translation: BAG63823.1
AL035456 Genomic DNA No translation available.
BC126205 mRNA Translation: AAI26206.1
BC126207 mRNA Translation: AAI26208.1
U77720 mRNA Translation: AAC51323.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13112.1 [P78504-1]

NCBI Reference Sequences

More...
RefSeqi
NP_000205.1, NM_000214.2 [P78504-1]
XP_016883196.1, XM_017027707.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.224012
Hs.626544

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000254958; ENSP00000254958; ENSG00000101384 [P78504-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
182

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:182

UCSC genome browser

More...
UCSCi
uc002wnw.3 human [P78504-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF003837 mRNA Translation: AAC51731.1
U73936 mRNA Translation: AAC52020.1
AF028593 mRNA Translation: AAB84053.1
U61276 mRNA Translation: AAB39007.1
AK302554 mRNA Translation: BAG63823.1
AL035456 Genomic DNA No translation available.
BC126205 mRNA Translation: AAI26206.1
BC126207 mRNA Translation: AAI26208.1
U77720 mRNA Translation: AAC51323.1 Frameshift.
CCDSiCCDS13112.1 [P78504-1]
RefSeqiNP_000205.1, NM_000214.2 [P78504-1]
XP_016883196.1, XM_017027707.1
UniGeneiHs.224012
Hs.626544

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KB9NMR-A252-295[»]
2VJ2X-ray2.50A/B185-335[»]
4CBZX-ray2.50A/B32-335[»]
4CC0X-ray2.32A/B32-335[»]
4CC1X-ray2.84A/B32-335[»]
4XI7X-ray2.05C1120-1130[»]
5BO1X-ray2.56A/B186-335[»]
DisProtiDP00418
ProteinModelPortaliP78504
SMRiP78504
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106689, 9 interactors
DIPiDIP-46371N
IntActiP78504, 11 interactors
MINTiP78504
STRINGi9606.ENSP00000254958

Chemistry databases

ChEMBLiCHEMBL3217396

PTM databases

iPTMnetiP78504
PhosphoSitePlusiP78504
SwissPalmiP78504

Polymorphism and mutation databases

BioMutaiJAG1
DMDMi20455033

Proteomic databases

EPDiP78504
MaxQBiP78504
PaxDbiP78504
PeptideAtlasiP78504
PRIDEiP78504
ProteomicsDBi57626

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
182
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254958; ENSP00000254958; ENSG00000101384 [P78504-1]
GeneIDi182
KEGGihsa:182
UCSCiuc002wnw.3 human [P78504-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
182
DisGeNETi182
EuPathDBiHostDB:ENSG00000101384.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
JAG1
GeneReviewsiJAG1
HGNCiHGNC:6188 JAG1
HPAiCAB010343
HPA021555
MalaCardsiJAG1
MIMi118450 phenotype
187500 phenotype
601920 gene
617992 phenotype
neXtProtiNX_P78504
OpenTargetsiENSG00000101384
Orphaneti261600 Alagille syndrome due to 20p12 microdeletion
261619 Alagille syndrome due to a JAG1 point mutation
3303 Tetralogy of Fallot
PharmGKBiPA29986

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00940000160148
HOGENOMiHOG000113124
HOVERGENiHBG031645
InParanoidiP78504
KOiK06052
OMAiKRSINCK
OrthoDBiEOG091G0A88
PhylomeDBiP78504
TreeFamiTF351835

Enzyme and pathway databases

ReactomeiR-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2660826 Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
R-HSA-2691232 Constitutive Signaling by NOTCH1 HD Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
SignaLinkiP78504
SIGNORiP78504

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
JAG1 human
EvolutionaryTraceiP78504

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
JAG1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
182

Protein Ontology

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PROi
PR:P78504

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000101384 Expressed in 237 organ(s), highest expression level in oviduct epithelium
CleanExiHS_JAG1
ExpressionAtlasiP78504 baseline and differential
GenevisibleiP78504 HS

Family and domain databases

InterProiView protein in InterPro
IPR001774 DSL
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR026219 Jagged/Serrate
IPR011651 Notch_ligand_N
IPR001007 VWF_dom
PfamiView protein in Pfam
PF01414 DSL, 1 hit
PF00008 EGF, 10 hits
PF07645 EGF_CA, 1 hit
PF12661 hEGF, 1 hit
PF07657 MNNL, 1 hit
PRINTSiPR02059 JAGGEDFAMILY
SMARTiView protein in SMART
SM00051 DSL, 1 hit
SM00181 EGF, 16 hits
SM00179 EGF_CA, 14 hits
SM00214 VWC, 1 hit
SM00215 VWC_out, 1 hit
SUPFAMiSSF57184 SSF57184, 3 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 10 hits
PS51051 DSL, 1 hit
PS00022 EGF_1, 16 hits
PS01186 EGF_2, 12 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 8 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiJAG1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P78504
Secondary accession number(s): A0AV43
, B4DYR1, E9PCF9, O14902, O15122, Q15816
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: December 5, 2018
This is version 202 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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