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UniProtKB - Q9NYJ7 (DLL3_HUMAN)

Entry version 190 (10 Feb 2021)
Sequence version 1 (01 Oct 2000)
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Protein

Delta-like protein 3

Gene

DLL3

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 transcript 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

Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processDifferentiation, Notch signaling pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NYJ7

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

More...SignaLinki		Q9NYJ7

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9NYJ7

<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 3
Alternative name(s):
Drosophila Delta homolog 3
Short name:
Delta3
<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:DLL3
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2909, DLL3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602768, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NYJ7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000090932.10

<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

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 – 492ExtracellularSequence analysisAdd BLAST466
<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>Transmembranei493 – 513HelicalSequence analysisAdd BLAST21
Topological domaini514 – 618CytoplasmicSequence analysisAdd BLAST105

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

Spondylocostal dysostosis 1, autosomal recessive (SCDO1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
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_009952385G → D in SCDO1. 1 PublicationCorresponds to variant dbSNP:rs104894674EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		10683

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

More...GeneReviewsi		DLL3

MalaCards human disease database

More...MalaCardsi		DLL3
MIMi277300, phenotype

Open Targets

More...OpenTargetsi		ENSG00000090932

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

More...Orphaneti		2311, Autosomal recessive spondylocostal dysostosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27365

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NYJ7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DLL3

Domain mapping of disease mutations (DMDM)

More...DMDMi		12229810

<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 – 26Sequence analysisAdd 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_000000750927 – 618Delta-like protein 3Add BLAST592

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 bondi220 ↔ 231PROSITE-ProRule annotation
Disulfide bondi224 ↔ 237PROSITE-ProRule annotation
Disulfide bondi239 ↔ 248PROSITE-ProRule annotation
Disulfide bondi278 ↔ 289PROSITE-ProRule annotation
Disulfide bondi283 ↔ 298PROSITE-ProRule annotation
Disulfide bondi300 ↔ 309PROSITE-ProRule annotation
Disulfide bondi316 ↔ 327PROSITE-ProRule annotation
Disulfide bondi321 ↔ 339PROSITE-ProRule annotation
Disulfide bondi341 ↔ 350PROSITE-ProRule annotation
Disulfide bondi357 ↔ 368PROSITE-ProRule annotation
Disulfide bondi362 ↔ 377PROSITE-ProRule annotation
Disulfide bondi379 ↔ 388PROSITE-ProRule annotation
Disulfide bondi395 ↔ 406PROSITE-ProRule annotation
Disulfide bondi400 ↔ 415PROSITE-ProRule annotation
Disulfide bondi417 ↔ 426PROSITE-ProRule annotation
Disulfide bondi433 ↔ 444PROSITE-ProRule annotation
Disulfide bondi438 ↔ 453PROSITE-ProRule annotation
Disulfide bondi455 ↔ 464PROSITE-ProRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation.By similarity

Keywords - PTMi

Disulfide bond, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NYJ7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NYJ7

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

More...PaxDbi		Q9NYJ7

PeptideAtlas

More...PeptideAtlasi		Q9NYJ7

PRoteomics IDEntifications database

More...PRIDEi		Q9NYJ7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20096
83237 [Q9NYJ7-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NYJ7

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

More...PhosphoSitePlusi		Q9NYJ7

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000090932, Expressed in subventricular zone (inner) (primate) and 58 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NYJ7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NYJ7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000090932, Tissue enriched (brain)

<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

Can bind and activate Notch-1 or another Notch receptor.

By similarity

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000205143

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NYJ7, 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

3D structure databases

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

More...SMRi		Q9NYJ7

Database of comparative protein structure models

More...ModBasei		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>Domaini176 – 215DSLAdd BLAST40
Domaini216 – 249EGF-like 1PROSITE-ProRule annotationAdd BLAST34
Domaini274 – 310EGF-like 2PROSITE-ProRule annotationAdd BLAST37
Domaini312 – 351EGF-like 3PROSITE-ProRule annotationAdd BLAST40
Domaini353 – 389EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini391 – 427EGF-like 5PROSITE-ProRule annotationAdd BLAST37
Domaini429 – 465EGF-like 6PROSITE-ProRule annotationAdd BLAST37

<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 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

More...GeneTreei		ENSGT00940000162127

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_033244_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NYJ7

Identification of Orthologs from Complete Genome Data

More...OMAi		VEDECEA

Database of Orthologous Groups

More...OrthoDBi		394787at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NYJ7

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
IPR001881, EGF-like_Ca-bd_dom
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR009030, Growth_fac_rcpt_cys_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00008, EGF, 4 hits
PF12661, hEGF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00181, EGF, 6 hits
SM00179, EGF_CA, 5 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
PS00022, EGF_1, 6 hits
PS01186, EGF_2, 6 hits
PS50026, EGF_3, 6 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>Sequences (2+)i

<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.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NYJ7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MVSPRMSGLL SQTVILALIF LPQTRPAGVF ELQIHSFGPG PGPGAPRSPC 
        60         70         80         90        100
SARLPCRLFF RVCLKPGLSE EAAESPCALG AALSARGPVY TEQPGAPAPD 
       110        120        130        140        150
LPLPDGLLQV PFRDAWPGTF SFIIETWREE LGDQIGGPAW SLLARVAGRR 
       160        170        180        190        200
RLAAGGPWAR DIQRAGAWEL RFSYRARCEP PAVGTACTRL CRPRSAPSRC 
       210        220        230        240        250
GPGLRPCAPL EDECEAPLVC RAGCSPEHGF CEQPGECRCL EGWTGPLCTV 
       260        270        280        290        300
PVSTSSCLSP RGPSSATTGC LVPGPGPCDG NPCANGGSCS ETPRSFECTC 
       310        320        330        340        350
PRGFYGLRCE VSGVTCADGP CFNGGLCVGG ADPDSAYICH CPPGFQGSNC 
       360        370        380        390        400
EKRVDRCSLQ PCRNGGLCLD LGHALRCRCR AGFAGPRCEH DLDDCAGRAC 
       410        420        430        440        450
ANGGTCVEGG GAHRCSCALG FGGRDCRERA DPCAARPCAH GGRCYAHFSG 
       460        470        480        490        500
LVCACAPGYM GARCEFPVHP DGASALPAAP PGLRPGDPQR YLLPPALGLL 
       510        520        530        540        550
VAAGVAGAAL LLVHVRRRGH SQDAGSRLLA GTPEPSVHAL PDALNNLRTQ 
       560        570        580        590        600
EGSGDGPSSS VDWNRPEDVD PQGIYVISAP SIYAREVATP LFPPLHTGRA 
       610 
GQRQHLLFPY PSSILSVK
Length:618
Mass (Da):64,618
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:i58A9BC0A7DEAD1A0
GO
Isoform 2 (identifier: Q9NYJ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     587-618: VATPLFPPLHTGRAGQRQHLLFPYPSSILSVK → A

Show »
Length:587
Mass (Da):61,178
Checksum:i66503288EABBFECE
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R177M0R177_HUMAN
Delta-like protein 3
DLL3
220Annotation score:

Annotation score:2 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 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 conflicti318D → N in BAC11535 (PubMed:16303743).Curated1
Sequence conflicti435A → V in BAC11535 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046782115A → T1 PublicationCorresponds to variant dbSNP:rs71647811Ensembl.1
Natural variantiVAR_046783142L → Q1 PublicationCorresponds to variant dbSNP:rs55741253EnsemblClinVar.1
Natural variantiVAR_046784172F → C2 PublicationsCorresponds to variant dbSNP:rs8107127EnsemblClinVar.1
Natural variantiVAR_016776218L → P2 PublicationsCorresponds to variant dbSNP:rs1110627EnsemblClinVar.1
Natural variantiVAR_009952385G → D in SCDO1. 1 PublicationCorresponds to variant dbSNP:rs104894674EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_045249587 – 618VATPL…ILSVK → A in isoform 2. 1 PublicationAdd BLAST32

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
AF241373 AF241372 Genomic DNA Translation: AAF62542.1
AK075302 mRNA Translation: BAC11535.1
AC011500 Genomic DNA No translation available.
BC000218 mRNA Translation: AAH00218.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12537.1 [Q9NYJ7-2]
CCDS12538.1 [Q9NYJ7-1]

NCBI Reference Sequences

More...RefSeqi		NP_058637.1, NM_016941.3 [Q9NYJ7-1]
NP_982353.1, NM_203486.2 [Q9NYJ7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000205143; ENSP00000205143; ENSG00000090932 [Q9NYJ7-1]
ENST00000356433; ENSP00000348810; ENSG00000090932 [Q9NYJ7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10683

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10683

UCSC genome browser

More...UCSCi		uc002olw.3, human [Q9NYJ7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF241373 AF241372 Genomic DNA Translation: AAF62542.1
AK075302 mRNA Translation: BAC11535.1
AC011500 Genomic DNA No translation available.
BC000218 mRNA Translation: AAH00218.1
CCDSiCCDS12537.1 [Q9NYJ7-2]
CCDS12538.1 [Q9NYJ7-1]
RefSeqiNP_058637.1, NM_016941.3 [Q9NYJ7-1]
NP_982353.1, NM_203486.2 [Q9NYJ7-2]

3D structure databases

SMRiQ9NYJ7
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000205143

PTM databases

iPTMnetiQ9NYJ7
PhosphoSitePlusiQ9NYJ7

Genetic variation databases

BioMutaiDLL3
DMDMi12229810

Proteomic databases

jPOSTiQ9NYJ7
MassIVEiQ9NYJ7
PaxDbiQ9NYJ7
PeptideAtlasiQ9NYJ7
PRIDEiQ9NYJ7
ProteomicsDBi20096
83237 [Q9NYJ7-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q9NYJ7, 94 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30387, 272 antibodies

The DNASU plasmid repository

More...DNASUi		10683

Genome annotation databases

EnsembliENST00000205143; ENSP00000205143; ENSG00000090932 [Q9NYJ7-1]
ENST00000356433; ENSP00000348810; ENSG00000090932 [Q9NYJ7-2]
GeneIDi10683
KEGGihsa:10683
UCSCiuc002olw.3, human [Q9NYJ7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10683
DisGeNETi10683

GeneCards: human genes, protein and diseases

More...GeneCardsi		DLL3
GeneReviewsiDLL3
HGNCiHGNC:2909, DLL3
HPAiENSG00000090932, Tissue enriched (brain)
MalaCardsiDLL3
MIMi277300, phenotype
602768, gene
neXtProtiNX_Q9NYJ7
OpenTargetsiENSG00000090932
Orphaneti2311, Autosomal recessive spondylocostal dysostosis
PharmGKBiPA27365
VEuPathDBiHostDB:ENSG00000090932.10

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1217, Eukaryota
GeneTreeiENSGT00940000162127
HOGENOMiCLU_033244_0_0_1
InParanoidiQ9NYJ7
OMAiVEDECEA
OrthoDBi394787at2759
PhylomeDBiQ9NYJ7
TreeFamiTF351835

Enzyme and pathway databases

PathwayCommonsiQ9NYJ7
SignaLinkiQ9NYJ7
SIGNORiQ9NYJ7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10683, 6 hits in 873 CRISPR screens

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

More...ChiTaRSi		DLL3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DLL3

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

More...GenomeRNAii		10683
PharosiQ9NYJ7, Tbio

Protein Ontology

More...PROi		PR:Q9NYJ7
RNActiQ9NYJ7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000090932, Expressed in subventricular zone (inner) (primate) and 58 other tissues
ExpressionAtlasiQ9NYJ7, baseline and differential
GenevisibleiQ9NYJ7, HS

Family and domain databases

InterProiView protein in InterPro
IPR001881, EGF-like_Ca-bd_dom
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR009030, Growth_fac_rcpt_cys_sf
PfamiView protein in Pfam
PF00008, EGF, 4 hits
PF12661, hEGF, 1 hit
SMARTiView protein in SMART
SM00181, EGF, 6 hits
SM00179, EGF_CA, 5 hits
SUPFAMiSSF57184, SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00022, EGF_1, 6 hits
PS01186, EGF_2, 6 hits
PS50026, EGF_3, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiDLL3_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: Q9NYJ7
Secondary accession number(s): E9PFG2, Q8NBS4
<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: December 1, 2000
Last sequence update: October 1, 2000
Last modified: February 10, 2021
This is version 190 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

Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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