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UniProtKB - Q9NYJ7 (DLL3_HUMAN)

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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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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
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
View the complete GO annotation on QuickGO ...

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
GeneTreeiENSGT00910000144018
HOGENOMiHOG000267024
HOVERGENiHBG007139
InParanoidiQ9NYJ7
KOiK06051
OMAiDECEAPP
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

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 → 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

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: June 20, 2018
This is version 171 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 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

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