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Entry version 182 (12 Aug 2020)
Sequence version 1 (01 Oct 2000)
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Protein

Delta-like protein 4

Gene

DLL4

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

Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344).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

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 processAngiogenesis, Differentiation, Neurogenesis, Notch signaling pathway, Sensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9NR61

Reactome - a knowledgebase of biological pathways and processes

More...
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-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

More...
SignaLinki
Q9NR61

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NR61

<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%5Fand%5Ftaxonomy%5Fsection">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:
Delta-like protein 4
Alternative name(s):
Drosophila Delta homolog 4
Short name:
Delta4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:DLL4
ORF Names:UNQ1895/PRO4341
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000128917.6

Human Gene Nomenclature Database

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HGNCi
HGNC:2910, DLL4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605185, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NR61

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini27 – 529ExtracellularSequence analysisAdd BLAST503
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei530 – 550HelicalSequence analysisAdd BLAST21
Topological domaini551 – 685CytoplasmicSequence analysisAdd BLAST135

Keywords - Cellular componenti

Cell membrane, 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

Adams-Oliver syndrome 6 (AOS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.
Related information in OMIM
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_075858121A → P in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065350EnsemblClinVar.1
Natural variantiVAR_075859186R → C in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065348EnsemblClinVar.1
Natural variantiVAR_075860195F → L in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065351EnsemblClinVar.1
Natural variantiVAR_075861267P → T in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065349EnsemblClinVar.1
Natural variantiVAR_075862390C → R in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065347EnsemblClinVar.1
Natural variantiVAR_075863390C → Y in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065346EnsemblClinVar.1
Natural variantiVAR_075864455C → W in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065345EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
54567

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

More...
GeneReviewsi
DLL4

MalaCards human disease database

More...
MalaCardsi
DLL4
MIMi616589, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000128917

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

More...
Orphaneti
974, Adams-Oliver syndrome
1114, Aplasia cutis congenita

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27366

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NR61, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3712916

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DLL4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13431490

<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 – 261 PublicationAdd BLAST26
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000751227 – 685Delta-like protein 4Add BLAST659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi50 ↔ 54By similarity
Disulfide bondi61 ↔ 74By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi108N-linked (GlcNAc...) asparagineBy similarity1
Disulfide bondi175 ↔ 184PROSITE-ProRule annotationBy similarity
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi188 ↔ 200PROSITE-ProRule annotationBy similarity
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi208 ↔ 217PROSITE-ProRule annotationBy similarity
Disulfide bondi222 ↔ 233PROSITE-ProRule annotationBy similarity
Disulfide bondi226 ↔ 239PROSITE-ProRule annotationBy similarity
Disulfide bondi241 ↔ 250PROSITE-ProRule annotationBy similarity
Disulfide bondi253 ↔ 264By similarity
Disulfide bondi259 ↔ 270By similarity
Disulfide bondi272 ↔ 281PROSITE-ProRule annotationBy similarity
Disulfide bondi288 ↔ 300By similarity
Disulfide bondi294 ↔ 310By similarity
Disulfide bondi312 ↔ 321By similarity
Disulfide bondi328 ↔ 339By similarity
Disulfide bondi333 ↔ 348By similarity
Disulfide bondi350 ↔ 359By similarity
Disulfide bondi366 ↔ 377By similarity
Disulfide bondi371 ↔ 388By similarity
Disulfide bondi390 ↔ 399By similarity
Glycosylationi393N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi406 ↔ 417By similarity
Disulfide bondi411 ↔ 426By similarity
Disulfide bondi428 ↔ 437By similarity
Disulfide bondi444 ↔ 455By similarity
Disulfide bondi449 ↔ 464By similarity
Disulfide bondi466 ↔ 475By similarity
Disulfide bondi484 ↔ 495By similarity
Disulfide bondi489 ↔ 506By similarity
Disulfide bondi508 ↔ 517By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NR61

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

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PaxDbi
Q9NR61

PeptideAtlas

More...
PeptideAtlasi
Q9NR61

PRoteomics IDEntifications database

More...
PRIDEi
Q9NR61

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
82285

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q9NR61, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NR61

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

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PhosphoSitePlusi
Q9NR61

<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

Expressed in vascular endothelium.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000128917, Expressed in heart left ventricle and 183 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NR61, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000128917, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NOTCH4.

Interacts (via N-terminal DSL and MNNL domains) with NOTCH1 (via EGF-like domains).

By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei110Interaction with Notch1By similarity1
Sitei216Interaction with Notch1By similarity1

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q9NR61, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000249749

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NR61, protein

<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

1685
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9NR61

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<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%5Fand%5Fdomains%5Fsection">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>Domaini173 – 217DSLPROSITE-ProRule annotationAdd BLAST45
Domaini218 – 251EGF-like 1PROSITE-ProRule annotationAdd BLAST34
Domaini252 – 282EGF-like 2PROSITE-ProRule annotationAdd BLAST31
Domaini284 – 322EGF-like 3PROSITE-ProRule annotationAdd BLAST39
Domaini324 – 360EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini362 – 400EGF-like 5PROSITE-ProRule annotationAdd BLAST39
Domaini402 – 438EGF-like 6PROSITE-ProRule annotationAdd BLAST37
Domaini440 – 476EGF-like 7PROSITE-ProRule annotationAdd BLAST37
Domaini480 – 518EGF-like 8PROSITE-ProRule annotationAdd BLAST39

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>Regioni185 – 187Interaction with Notch1By similarity3
Regioni191 – 195Interaction with Notch1By similarity5

<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 Delta-Serrate-Lag2 (DSL) domain is required for binding to the Notch receptor.

Keywords - Domaini

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000157441

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012574_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NR61

KEGG Orthology (KO)

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KOi
K06051

Identification of Orthologs from Complete Genome Data

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OMAi
CDECIPH

Database of Orthologous Groups

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OrthoDBi
406049at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NR61

TreeFam database of animal gene trees

More...
TreeFami
TF351835

Family and domain databases

Database of protein disorder

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DisProti
DP01490

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
IPR009030, Growth_fac_rcpt_cys_sf
IPR011651, Notch_ligand_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01414, DSL, 1 hit
PF00008, EGF, 5 hits
PF07657, MNNL, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00051, DSL, 1 hit
SM00181, EGF, 9 hits
SM00179, EGF_CA, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184, SSF57184, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010, ASX_HYDROXYL, 1 hit
PS51051, DSL, 1 hit
PS00022, EGF_1, 8 hits
PS01186, EGF_2, 7 hits
PS50026, EGF_3, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

Q9NR61-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAASRSASG WALLLLVALW QQRAAGSGVF QLQLQEFINE RGVLASGRPC
60 70 80 90 100
EPGCRTFFRV CLKHFQAVVS PGPCTFGTVS TPVLGTNSFA VRDDSSGGGR
110 120 130 140 150
NPLQLPFNFT WPGTFSLIIE AWHAPGDDLR PEALPPDALI SKIAIQGSLA
160 170 180 190 200
VGQNWLLDEQ TSTLTRLRYS YRVICSDNYY GDNCSRLCKK RNDHFGHYVC
210 220 230 240 250
QPDGNLSCLP GWTGEYCQQP ICLSGCHEQN GYCSKPAECL CRPGWQGRLC
260 270 280 290 300
NECIPHNGCR HGTCSTPWQC TCDEGWGGLF CDQDLNYCTH HSPCKNGATC
310 320 330 340 350
SNSGQRSYTC TCRPGYTGVD CELELSECDS NPCRNGGSCK DQEDGYHCLC
360 370 380 390 400
PPGYYGLHCE HSTLSCADSP CFNGGSCRER NQGANYACEC PPNFTGSNCE
410 420 430 440 450
KKVDRCTSNP CANGGQCLNR GPSRMCRCRP GFTGTYCELH VSDCARNPCA
460 470 480 490 500
HGGTCHDLEN GLMCTCPAGF SGRRCEVRTS IDACASSPCF NRATCYTDLS
510 520 530 540 550
TDTFVCNCPY GFVGSRCEFP VGLPPSFPWV AVSLGVGLAV LLVLLGMVAV
560 570 580 590 600
AVRQLRLRRP DDGSREAMNN LSDFQKDNLI PAAQLKNTNQ KKELEVDCGL
610 620 630 640 650
DKSNCGKQQN HTLDYNLAPG PLGRGTMPGK FPHSDKSLGE KAPLRLHSEK
660 670 680
PECRISAICS PRDSMYQSVC LISEERNECV IATEV
Length:685
Mass (Da):74,605
Last modified:October 1, 2000 - v1
<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:i6CF89D3C220ACC89
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075858121A → P in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065350EnsemblClinVar.1
Natural variantiVAR_075859186R → C in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065348EnsemblClinVar.1
Natural variantiVAR_075860195F → L in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065351EnsemblClinVar.1
Natural variantiVAR_075861267P → T in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065349EnsemblClinVar.1
Natural variantiVAR_075862390C → R in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065347EnsemblClinVar.1
Natural variantiVAR_075863390C → Y in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065346EnsemblClinVar.1
Natural variantiVAR_075864455C → W in AOS6. 1 PublicationCorresponds to variant dbSNP:rs796065345EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF253468 mRNA Translation: AAF76427.1
AB036931 mRNA Translation: BAB16085.1
AB043894 mRNA Translation: BAB18581.1
AY358894 mRNA Translation: AAQ89253.1
BC106950 mRNA Translation: AAI06951.1
AF279305 mRNA Translation: AAF81912.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS45232.1

Protein sequence database of the Protein Information Resource

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PIRi
JC7570

NCBI Reference Sequences

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RefSeqi
NP_061947.1, NM_019074.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000249749; ENSP00000249749; ENSG00000128917

Database of genes from NCBI RefSeq genomes

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GeneIDi
54567

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54567

UCSC genome browser

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UCSCi
uc001zng.3, human

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF253468 mRNA Translation: AAF76427.1
AB036931 mRNA Translation: BAB16085.1
AB043894 mRNA Translation: BAB18581.1
AY358894 mRNA Translation: AAQ89253.1
BC106950 mRNA Translation: AAI06951.1
AF279305 mRNA Translation: AAF81912.1
CCDSiCCDS45232.1
PIRiJC7570
RefSeqiNP_061947.1, NM_019074.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5MVXX-ray2.17A27-325[»]
SMRiQ9NR61
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

IntActiQ9NR61, 1 interactor
STRINGi9606.ENSP00000249749

Chemistry databases

ChEMBLiCHEMBL3712916

PTM databases

GlyGeniQ9NR61, 4 sites
iPTMnetiQ9NR61
PhosphoSitePlusiQ9NR61

Polymorphism and mutation databases

BioMutaiDLL4
DMDMi13431490

Proteomic databases

jPOSTiQ9NR61
PaxDbiQ9NR61
PeptideAtlasiQ9NR61
PRIDEiQ9NR61
ProteomicsDBi82285

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q9NR61, 54 sequenced antibodies

Antibodypedia a portal for validated antibodies

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Antibodypediai
5995, 827 antibodies

Genome annotation databases

EnsembliENST00000249749; ENSP00000249749; ENSG00000128917
GeneIDi54567
KEGGihsa:54567
UCSCiuc001zng.3, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54567
DisGeNETi54567
EuPathDBiHostDB:ENSG00000128917.6

GeneCards: human genes, protein and diseases

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GeneCardsi
DLL4
GeneReviewsiDLL4
HGNCiHGNC:2910, DLL4
HPAiENSG00000128917, Low tissue specificity
MalaCardsiDLL4
MIMi605185, gene
616589, phenotype
neXtProtiNX_Q9NR61
OpenTargetsiENSG00000128917
Orphaneti974, Adams-Oliver syndrome
1114, Aplasia cutis congenita
PharmGKBiPA27366

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1217, Eukaryota
GeneTreeiENSGT00940000157441
HOGENOMiCLU_012574_1_0_1
InParanoidiQ9NR61
KOiK06051
OMAiCDECIPH
OrthoDBi406049at2759
PhylomeDBiQ9NR61
TreeFamiTF351835

Enzyme and pathway databases

PathwayCommonsiQ9NR61
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-9013507, NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700, NOTCH4 Activation and Transmission of Signal to the Nucleus
SignaLinkiQ9NR61
SIGNORiQ9NR61

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54567, 4 hits in 868 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DLL4

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

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GenomeRNAii
54567
PharosiQ9NR61, Tbio

Protein Ontology

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PROi
PR:Q9NR61
RNActiQ9NR61, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000128917, Expressed in heart left ventricle and 183 other tissues
GenevisibleiQ9NR61, HS

Family and domain databases

DisProtiDP01490
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
IPR009030, Growth_fac_rcpt_cys_sf
IPR011651, Notch_ligand_N
PfamiView protein in Pfam
PF01414, DSL, 1 hit
PF00008, EGF, 5 hits
PF07657, MNNL, 1 hit
SMARTiView protein in SMART
SM00051, DSL, 1 hit
SM00181, EGF, 9 hits
SM00179, EGF_CA, 6 hits
SUPFAMiSSF57184, SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010, ASX_HYDROXYL, 1 hit
PS51051, DSL, 1 hit
PS00022, EGF_1, 8 hits
PS01186, EGF_2, 7 hits
PS50026, EGF_3, 8 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 nameiDLL4_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: Q9NR61
Secondary accession number(s): Q3KP23, Q9NQT9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 1, 2000
Last modified: August 12, 2020
This is version 182 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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