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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-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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Notch signaling pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000090932-MONOMER.
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

HGNCiHGNC:2909. DLL3.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
Complete GO annotation...

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 rs104894674dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi10683.
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.

PTM databases

iPTMnetiQ9NYJ7.
PhosphoSitePlusiQ9NYJ7.

Expressioni

Gene expression databases

BgeeiENSG00000090932.
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

  • Notch binding Source: UniProtKB

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.

Sequence similaritiesi

Contains 1 DSL domain.Curated
Contains 6 EGF-like domains.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
ENOG410XP6K. LUCA.
GeneTreeiENSGT00840000129708.
HOGENOMiHOG000267024.
HOVERGENiHBG007139.
InParanoidiQ9NYJ7.
KOiK06051.
OMAiRGPVYTE.
OrthoDBiEOG091G058A.
PhylomeDBiQ9NYJ7.
TreeFamiTF351835.

Family and domain databases

InterProiIPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR009030. Growth_fac_rcpt_.
[Graphical view]
PfamiPF00008. EGF. 4 hits.
PF12661. hEGF. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00022. EGF_1. 6 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 6 hits.
[Graphical view]

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

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

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 → T.1 PublicationCorresponds to variant rs71647811dbSNPEnsembl.1
Natural variantiVAR_046783142L → Q.1 PublicationCorresponds to variant rs55741253dbSNPEnsembl.1
Natural variantiVAR_046784172F → C.2 PublicationsCorresponds to variant rs8107127dbSNPEnsembl.1
Natural variantiVAR_016776218L → P.2 PublicationsCorresponds to variant rs1110627dbSNPEnsembl.1
Natural variantiVAR_009952385G → D in SCDO1. 1 PublicationCorresponds to variant rs104894674dbSNPEnsembl.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

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.

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.
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.
GeneTreeiENSGT00840000129708.
HOGENOMiHOG000267024.
HOVERGENiHBG007139.
InParanoidiQ9NYJ7.
KOiK06051.
OMAiRGPVYTE.
OrthoDBiEOG091G058A.
PhylomeDBiQ9NYJ7.
TreeFamiTF351835.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000090932-MONOMER.
SignaLinkiQ9NYJ7.
SIGNORiQ9NYJ7.

Miscellaneous databases

ChiTaRSiDLL3. human.
GeneWikiiDLL3.
GenomeRNAii10683.
PROiQ9NYJ7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000090932.
CleanExiHS_DLL3.
ExpressionAtlasiQ9NYJ7. baseline and differential.
GenevisibleiQ9NYJ7. HS.

Family and domain databases

InterProiIPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR009030. Growth_fac_rcpt_.
[Graphical view]
PfamiPF00008. EGF. 4 hits.
PF12661. hEGF. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00022. EGF_1. 6 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDLL3_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 161 of the entry and version 1 of the sequence. [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 chromosome 19
    Human chromosome 19: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.