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Protein

Delta-like protein 3

Gene

DLL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • Notch binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Notch signaling pathway

Enzyme and pathway databases

SignaLinkiQ9NYJ7
SIGNORiQ9NYJ7

Names & Taxonomyi

Protein namesi
Recommended name:
Delta-like protein 3
Alternative name(s):
Drosophila Delta homolog 3
Short name:
Delta3
Gene namesi
Name:DLL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000090932.10
HGNCiHGNC:2909 DLL3
MIMi602768 gene
neXtProtiNX_Q9NYJ7

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 492ExtracellularSequence analysisAdd BLAST466
Transmembranei493 – 513HelicalSequence analysisAdd BLAST21
Topological domaini514 – 618CytoplasmicSequence analysisAdd BLAST105

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spondylocostal dysostosis 1, autosomal recessive (SCDO1)1 Publication
The disease is caused by mutations 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.
See also OMIM:277300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009952385G → D in SCDO1. 1 PublicationCorresponds to variant dbSNP:rs104894674EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi10683
GeneReviewsiDLL3
MalaCardsiDLL3
MIMi277300 phenotype
OpenTargetsiENSG00000090932
Orphaneti2311 Autosomal recessive spondylocostal dysostosis
PharmGKBiPA27365

Polymorphism and mutation databases

BioMutaiDLL3
DMDMi12229810

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000750927 – 618Delta-like protein 3Add BLAST592

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

PaxDbiQ9NYJ7
PeptideAtlasiQ9NYJ7
PRIDEiQ9NYJ7
ProteomicsDBi83237

PTM databases

iPTMnetiQ9NYJ7
PhosphoSitePlusiQ9NYJ7

Expressioni

Gene expression databases

BgeeiENSG00000090932 Expressed in 41 organ(s), highest expression level in nucleus accumbens
CleanExiHS_DLL3
ExpressionAtlasiQ9NYJ7 baseline and differential
GenevisibleiQ9NYJ7 HS

Organism-specific databases

HPAiHPA056533

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000205143

Structurei

3D structure databases

ProteinModelPortaliQ9NYJ7
SMRiQ9NYJ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Domaini

The DSL domain is required for binding to the Notch receptor.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00930000150895
HOGENOMiHOG000267024
HOVERGENiHBG007139
InParanoidiQ9NYJ7
KOiK06051
OMAiGPWARDI
OrthoDBiEOG091G058A
PhylomeDBiQ9NYJ7
TreeFamiTF351835

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

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 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 '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
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
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

Note: No experimental confirmation available.
Show »
Length:587
Mass (Da):61,178
Checksum:i66503288EABBFECE
GO

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_045249587 – 618VATPL…ILSVK → A in isoform 2. 1 PublicationAdd BLAST32

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
CCDSiCCDS12537.1 [Q9NYJ7-2]
CCDS12538.1 [Q9NYJ7-1]
RefSeqiNP_058637.1, NM_016941.3 [Q9NYJ7-1]
NP_982353.1, NM_203486.2 [Q9NYJ7-2]
UniGeneiHs.127792

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS12537.1 [Q9NYJ7-2]
CCDS12538.1 [Q9NYJ7-1]
RefSeqiNP_058637.1, NM_016941.3 [Q9NYJ7-1]
NP_982353.1, NM_203486.2 [Q9NYJ7-2]
UniGeneiHs.127792

3D structure databases

ProteinModelPortaliQ9NYJ7
SMRiQ9NYJ7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000205143

PTM databases

iPTMnetiQ9NYJ7
PhosphoSitePlusiQ9NYJ7

Polymorphism and mutation databases

BioMutaiDLL3
DMDMi12229810

Proteomic databases

PaxDbiQ9NYJ7
PeptideAtlasiQ9NYJ7
PRIDEiQ9NYJ7
ProteomicsDBi83237

Protocols and materials databases

DNASUi10683
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10683
DisGeNETi10683
EuPathDBiHostDB:ENSG00000090932.10
GeneCardsiDLL3
GeneReviewsiDLL3
HGNCiHGNC:2909 DLL3
HPAiHPA056533
MalaCardsiDLL3
MIMi277300 phenotype
602768 gene
neXtProtiNX_Q9NYJ7
OpenTargetsiENSG00000090932
Orphaneti2311 Autosomal recessive spondylocostal dysostosis
PharmGKBiPA27365
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00930000150895
HOGENOMiHOG000267024
HOVERGENiHBG007139
InParanoidiQ9NYJ7
KOiK06051
OMAiGPWARDI
OrthoDBiEOG091G058A
PhylomeDBiQ9NYJ7
TreeFamiTF351835

Enzyme and pathway databases

SignaLinkiQ9NYJ7
SIGNORiQ9NYJ7

Miscellaneous databases

ChiTaRSiDLL3 human
GeneWikiiDLL3
GenomeRNAii10683
PROiPR:Q9NYJ7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000090932 Expressed in 41 organ(s), highest expression level in nucleus accumbens
CleanExiHS_DLL3
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
ProtoNetiSearch...

Entry informationi

Entry nameiDLL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NYJ7
Secondary accession number(s): E9PFG2, Q8NBS4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 173 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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