UniProtKB - Q9NYJ7 (DLL3_HUMAN)
Delta-like protein 3
DLL3
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 similarityGO - Molecular functioni
- calcium ion binding Source: InterPro
- Notch binding Source: GO_Central
GO - Biological processi
- compartment pattern specification Source: Ensembl
- negative regulation of neurogenesis Source: Ensembl
- Notch signaling pathway Source: UniProtKB-KW
- paraxial mesoderm development Source: Ensembl
- skeletal system development Source: UniProtKB
- somitogenesis Source: Ensembl
Keywordsi
Molecular function | Developmental protein |
Biological process | Differentiation, Notch signaling pathway |
Enzyme and pathway databases
PathwayCommonsi | Q9NYJ7 |
SignaLinki | Q9NYJ7 |
SIGNORi | Q9NYJ7 |
Names & Taxonomyi
Protein namesi | Recommended name: Delta-like protein 3Alternative name(s): Drosophila Delta homolog 3 Short name: Delta3 |
Gene namesi | Name:DLL3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2909, DLL3 |
MIMi | 602768, gene |
neXtProti | NX_Q9NYJ7 |
VEuPathDBi | HostDB:ENSG00000090932 |
Subcellular locationi
Other locations
- Membrane Curated; Single-pass type I membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 27 – 492 | ExtracellularSequence analysisAdd BLAST | 466 | |
Transmembranei | 493 – 513 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 514 – 618 | CytoplasmicSequence analysisAdd BLAST | 105 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Spondylocostal dysostosis 1, autosomal recessive (SCDO1)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009952 | 385 | G → D in SCDO1. 1 PublicationCorresponds to variant dbSNP:rs104894674EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 10683 |
GeneReviewsi | DLL3 |
MalaCardsi | DLL3 |
MIMi | 277300, phenotype |
OpenTargetsi | ENSG00000090932 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA27365 |
Miscellaneous databases
Pharosi | Q9NYJ7, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4630888 |
Genetic variation databases
BioMutai | DLL3 |
DMDMi | 12229810 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000007509 | 27 – 618 | Delta-like protein 3Add BLAST | 592 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 220 ↔ 231 | PROSITE-ProRule annotation | ||
Disulfide bondi | 224 ↔ 237 | PROSITE-ProRule annotation | ||
Disulfide bondi | 239 ↔ 248 | PROSITE-ProRule annotation | ||
Disulfide bondi | 278 ↔ 289 | PROSITE-ProRule annotation | ||
Disulfide bondi | 283 ↔ 298 | PROSITE-ProRule annotation | ||
Disulfide bondi | 300 ↔ 309 | PROSITE-ProRule annotation | ||
Disulfide bondi | 316 ↔ 327 | PROSITE-ProRule annotation | ||
Disulfide bondi | 321 ↔ 339 | PROSITE-ProRule annotation | ||
Disulfide bondi | 341 ↔ 350 | PROSITE-ProRule annotation | ||
Disulfide bondi | 357 ↔ 368 | PROSITE-ProRule annotation | ||
Disulfide bondi | 362 ↔ 377 | PROSITE-ProRule annotation | ||
Disulfide bondi | 379 ↔ 388 | PROSITE-ProRule annotation | ||
Disulfide bondi | 395 ↔ 406 | PROSITE-ProRule annotation | ||
Disulfide bondi | 400 ↔ 415 | PROSITE-ProRule annotation | ||
Disulfide bondi | 417 ↔ 426 | PROSITE-ProRule annotation | ||
Disulfide bondi | 433 ↔ 444 | PROSITE-ProRule annotation | ||
Disulfide bondi | 438 ↔ 453 | PROSITE-ProRule annotation | ||
Disulfide bondi | 455 ↔ 464 | PROSITE-ProRule annotation |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Ubl conjugationProteomic databases
jPOSTi | Q9NYJ7 |
MassIVEi | Q9NYJ7 |
PaxDbi | Q9NYJ7 |
PeptideAtlasi | Q9NYJ7 |
PRIDEi | Q9NYJ7 |
ProteomicsDBi | 20096 83237 [Q9NYJ7-1] |
PTM databases
iPTMneti | Q9NYJ7 |
PhosphoSitePlusi | Q9NYJ7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000090932, Expressed in subventricular zone (inner) (primate) and 58 other tissues |
ExpressionAtlasi | Q9NYJ7, baseline and differential |
Genevisiblei | Q9NYJ7, HS |
Organism-specific databases
HPAi | ENSG00000090932, Group enriched (brain, choroid plexus, pituitary gland, testis) |
Interactioni
Subunit structurei
Can bind and activate Notch-1 or another Notch receptor.
By similarityGO - Molecular functioni
- Notch binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 115922, 6 interactors |
STRINGi | 9606.ENSP00000205143 |
Miscellaneous databases
RNActi | Q9NYJ7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 176 – 215 | DSLAdd BLAST | 40 | |
Domaini | 216 – 249 | EGF-like 1PROSITE-ProRule annotationAdd BLAST | 34 | |
Domaini | 274 – 310 | EGF-like 2PROSITE-ProRule annotationAdd BLAST | 37 | |
Domaini | 312 – 351 | EGF-like 3PROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 353 – 389 | EGF-like 4PROSITE-ProRule annotationAdd BLAST | 37 | |
Domaini | 391 – 427 | EGF-like 5PROSITE-ProRule annotationAdd BLAST | 37 | |
Domaini | 429 – 465 | EGF-like 6PROSITE-ProRule annotationAdd BLAST | 37 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 546 – 566 | DisorderedSequence analysisAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 546 – 560 | Polar residuesSequence analysisAdd BLAST | 15 |
Domaini
Keywords - Domaini
EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00940000162127 |
HOGENOMi | CLU_033244_0_0_1 |
InParanoidi | Q9NYJ7 |
OMAi | VEDECEA |
OrthoDBi | 394787at2759 |
PhylomeDBi | Q9NYJ7 |
TreeFami | TF351835 |
Family and domain databases
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 |
Pfami | View protein in Pfam PF00008, EGF, 4 hits PF12661, hEGF, 1 hit |
SMARTi | View protein in SMART SM00181, EGF, 6 hits SM00179, EGF_CA, 5 hits |
SUPFAMi | SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS00022, EGF_1, 6 hits PS01186, EGF_2, 6 hits PS50026, EGF_3, 6 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketM0R177 | M0R177_HUMAN | Delta-like protein 3 | DLL3 | 220 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 318 | D → N in BAC11535 (PubMed:16303743).Curated | 1 | |
Sequence conflicti | 435 | A → V in BAC11535 (PubMed:16303743).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046782 | 115 | A → T1 PublicationCorresponds to variant dbSNP:rs71647811EnsemblClinVar. | 1 | |
Natural variantiVAR_046783 | 142 | L → Q1 PublicationCorresponds to variant dbSNP:rs55741253EnsemblClinVar. | 1 | |
Natural variantiVAR_046784 | 172 | F → C2 PublicationsCorresponds to variant dbSNP:rs8107127EnsemblClinVar. | 1 | |
Natural variantiVAR_016776 | 218 | L → P2 PublicationsCorresponds to variant dbSNP:rs1110627EnsemblClinVar. | 1 | |
Natural variantiVAR_009952 | 385 | G → D in SCDO1. 1 PublicationCorresponds to variant dbSNP:rs104894674EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045249 | 587 – 618 | VATPL…ILSVK → A in isoform 2. 1 PublicationAdd BLAST | 32 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF241373 , AF241367, AF241368, AF241369, AF241370, AF241371, AF241372 Genomic DNA Translation: AAF62542.1 AK075302 mRNA Translation: BAC11535.1 AC011500 Genomic DNA No translation available. BC000218 mRNA Translation: AAH00218.1 |
CCDSi | CCDS12537.1 [Q9NYJ7-2] CCDS12538.1 [Q9NYJ7-1] |
RefSeqi | NP_058637.1, NM_016941.3 [Q9NYJ7-1] NP_982353.1, NM_203486.2 [Q9NYJ7-2] |
Genome annotation databases
Ensembli | ENST00000205143; ENSP00000205143; ENSG00000090932 ENST00000356433; ENSP00000348810; ENSG00000090932 [Q9NYJ7-2] |
GeneIDi | 10683 |
KEGGi | hsa:10683 |
MANE-Selecti | ENST00000356433.10; ENSP00000348810.4; NM_203486.3; NP_982353.1 [Q9NYJ7-2] |
UCSCi | uc002olw.3, human [Q9NYJ7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF241373 , AF241367, AF241368, AF241369, AF241370, AF241371, AF241372 Genomic DNA Translation: AAF62542.1 AK075302 mRNA Translation: BAC11535.1 AC011500 Genomic DNA No translation available. BC000218 mRNA Translation: AAH00218.1 |
CCDSi | CCDS12537.1 [Q9NYJ7-2] CCDS12538.1 [Q9NYJ7-1] |
RefSeqi | NP_058637.1, NM_016941.3 [Q9NYJ7-1] NP_982353.1, NM_203486.2 [Q9NYJ7-2] |
3D structure databases
SMRi | Q9NYJ7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115922, 6 interactors |
STRINGi | 9606.ENSP00000205143 |
Chemistry databases
ChEMBLi | CHEMBL4630888 |
PTM databases
iPTMneti | Q9NYJ7 |
PhosphoSitePlusi | Q9NYJ7 |
Genetic variation databases
BioMutai | DLL3 |
DMDMi | 12229810 |
Proteomic databases
jPOSTi | Q9NYJ7 |
MassIVEi | Q9NYJ7 |
PaxDbi | Q9NYJ7 |
PeptideAtlasi | Q9NYJ7 |
PRIDEi | Q9NYJ7 |
ProteomicsDBi | 20096 83237 [Q9NYJ7-1] |
Protocols and materials databases
ABCDi | Q9NYJ7, 94 sequenced antibodies |
Antibodypediai | 30387, 585 antibodies from 32 providers |
DNASUi | 10683 |
Genome annotation databases
Ensembli | ENST00000205143; ENSP00000205143; ENSG00000090932 ENST00000356433; ENSP00000348810; ENSG00000090932 [Q9NYJ7-2] |
GeneIDi | 10683 |
KEGGi | hsa:10683 |
MANE-Selecti | ENST00000356433.10; ENSP00000348810.4; NM_203486.3; NP_982353.1 [Q9NYJ7-2] |
UCSCi | uc002olw.3, human [Q9NYJ7-1] |
Organism-specific databases
CTDi | 10683 |
DisGeNETi | 10683 |
GeneCardsi | DLL3 |
GeneReviewsi | DLL3 |
HGNCi | HGNC:2909, DLL3 |
HPAi | ENSG00000090932, Group enriched (brain, choroid plexus, pituitary gland, testis) |
MalaCardsi | DLL3 |
MIMi | 277300, phenotype 602768, gene |
neXtProti | NX_Q9NYJ7 |
OpenTargetsi | ENSG00000090932 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA27365 |
VEuPathDBi | HostDB:ENSG00000090932 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00940000162127 |
HOGENOMi | CLU_033244_0_0_1 |
InParanoidi | Q9NYJ7 |
OMAi | VEDECEA |
OrthoDBi | 394787at2759 |
PhylomeDBi | Q9NYJ7 |
TreeFami | TF351835 |
Enzyme and pathway databases
PathwayCommonsi | Q9NYJ7 |
SignaLinki | Q9NYJ7 |
SIGNORi | Q9NYJ7 |
Miscellaneous databases
BioGRID-ORCSi | 10683, 10 hits in 1043 CRISPR screens |
ChiTaRSi | DLL3, human |
GeneWikii | DLL3 |
GenomeRNAii | 10683 |
Pharosi | Q9NYJ7, Tbio |
PROi | PR:Q9NYJ7 |
RNActi | Q9NYJ7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000090932, Expressed in subventricular zone (inner) (primate) and 58 other tissues |
ExpressionAtlasi | Q9NYJ7, baseline and differential |
Genevisiblei | Q9NYJ7, HS |
Family and domain databases
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 |
Pfami | View protein in Pfam PF00008, EGF, 4 hits PF12661, hEGF, 1 hit |
SMARTi | View protein in SMART SM00181, EGF, 6 hits SM00179, EGF_CA, 5 hits |
SUPFAMi | SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS00022, EGF_1, 6 hits PS01186, EGF_2, 6 hits PS50026, EGF_3, 6 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | DLL3_HUMAN | |
Accessioni | Q9NYJ7Primary (citable) accession number: Q9NYJ7 Secondary accession number(s): E9PFG2, Q8NBS4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 194 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot