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Q9NYJ7

- DLL3_HUMAN

UniProt

Q9NYJ7 - DLL3_HUMAN

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Protein

Delta-like protein 3

Gene

DLL3

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. Notch binding Source: UniProtKB

GO - Biological processi

  1. compartment pattern specification Source: Ensembl
  2. negative regulation of neurogenesis Source: Ensembl
  3. Notch signaling pathway Source: UniProtKB-KW
  4. paraxial mesoderm development Source: Ensembl
  5. skeletal system development Source: UniProtKB
  6. somitogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Notch signaling pathway

Enzyme and pathway databases

SignaLinkiQ9NYJ7.

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:2909. DLL3.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti385 – 3851G → D in SCDO1. 1 Publication
VAR_009952

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi277300. phenotype.
Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBiPA27365.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 618592Delta-like protein 3PRO_0000007509Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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.
PRIDEiQ9NYJ7.

Expressioni

Gene expression databases

BgeeiQ9NYJ7.
CleanExiHS_DLL3.
ExpressionAtlasiQ9NYJ7. baseline.
GenevestigatoriQ9NYJ7.

Organism-specific databases

HPAiHPA056533.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115922. 1 interaction.
STRINGi9606.ENSP00000205143.

Structurei

3D structure databases

ProteinModelPortaliQ9NYJ7.
SMRiQ9NYJ7. Positions 27-468.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 492466ExtracellularSequence AnalysisAdd
BLAST
Topological domaini514 – 618105CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei493 – 51321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini176 – 21540DSLAdd
BLAST
Domaini216 – 24934EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini274 – 31037EGF-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini312 – 35140EGF-like 3PROSITE-ProRule annotationAdd
BLAST
Domaini353 – 38937EGF-like 4PROSITE-ProRule annotationAdd
BLAST
Domaini391 – 42737EGF-like 5PROSITE-ProRule annotationAdd
BLAST
Domaini429 – 46537EGF-like 6PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiNOG244272.
GeneTreeiENSGT00760000118786.
HOGENOMiHOG000267024.
HOVERGENiHBG007139.
InParanoidiQ9NYJ7.
KOiK06051.
OMAiDECRCLE.
OrthoDBiEOG7P8P7B.
PhylomeDBiQ9NYJ7.
TreeFamiTF351835.

Family and domain databases

InterProiIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR011651. Notch_ligand_N.
[Graphical view]
PfamiPF00008. EGF. 3 hits.
PF12661. hEGF. 2 hits.
PF07657. MNNL. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 6 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti318 – 3181D → N in BAC11535. (PubMed:16303743)Curated
Sequence conflicti435 – 4351A → V in BAC11535. (PubMed:16303743)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151A → T.1 Publication
VAR_046782
Natural varianti142 – 1421L → Q.1 Publication
Corresponds to variant rs55741253 [ dbSNP | Ensembl ].
VAR_046783
Natural varianti172 – 1721F → C.2 Publications
Corresponds to variant rs8107127 [ dbSNP | Ensembl ].
VAR_046784
Natural varianti218 – 2181L → P.2 Publications
Corresponds to variant rs1110627 [ dbSNP | Ensembl ].
VAR_016776
Natural varianti385 – 3851G → D in SCDO1. 1 Publication
VAR_009952

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei587 – 61832VATPL…ILSVK → A in isoform 2. 1 PublicationVSP_045249Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002olx.2. human. [Q9NYJ7-1]

Polymorphism databases

DMDMi12229810.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.127792.

3D structure databases

ProteinModelPortali Q9NYJ7.
SMRi Q9NYJ7. Positions 27-468.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115922. 1 interaction.
STRINGi 9606.ENSP00000205143.

Polymorphism databases

DMDMi 12229810.

Proteomic databases

PaxDbi Q9NYJ7.
PRIDEi Q9NYJ7.

Protocols and materials databases

DNASUi 10683.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000205143 ; ENSP00000205143 ; ENSG00000090932 . [Q9NYJ7-1 ]
ENST00000356433 ; ENSP00000348810 ; ENSG00000090932 . [Q9NYJ7-2 ]
GeneIDi 10683.
KEGGi hsa:10683.
UCSCi uc002olx.2. human. [Q9NYJ7-1 ]

Organism-specific databases

CTDi 10683.
GeneCardsi GC19P039989.
GeneReviewsi DLL3.
HGNCi HGNC:2909. DLL3.
HPAi HPA056533.
MIMi 277300. phenotype.
602768. gene.
neXtProti NX_Q9NYJ7.
Orphaneti 2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBi PA27365.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG244272.
GeneTreei ENSGT00760000118786.
HOGENOMi HOG000267024.
HOVERGENi HBG007139.
InParanoidi Q9NYJ7.
KOi K06051.
OMAi DECRCLE.
OrthoDBi EOG7P8P7B.
PhylomeDBi Q9NYJ7.
TreeFami TF351835.

Enzyme and pathway databases

SignaLinki Q9NYJ7.

Miscellaneous databases

GeneWikii DLL3.
GenomeRNAii 10683.
NextBioi 40615.
PROi Q9NYJ7.
SOURCEi Search...

Gene expression databases

Bgeei Q9NYJ7.
CleanExi HS_DLL3.
ExpressionAtlasi Q9NYJ7. baseline.
Genevestigatori Q9NYJ7.

Family and domain databases

InterProi IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR011651. Notch_ligand_N.
[Graphical view ]
Pfami PF00008. EGF. 3 hits.
PF12661. hEGF. 2 hits.
PF07657. MNNL. 1 hit.
[Graphical view ]
SMARTi SM00181. EGF. 6 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 1 hit.
PROSITEi PS00022. EGF_1. 6 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis."
    Bulman M.P., Kusumi K., Frayling T.M., McKeown C., Garrett C., Lander E.S., Krumlauf R., Hattersley A.T., Ellard S., Turnpenny P.D.
    Nat. Genet. 24:438-441(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT SCDO1 ASP-385.
  2. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS CYS-172 AND PRO-218.
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  5. Cited for: VARIANTS THR-115; GLN-142; CYS-172 AND PRO-218.

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: October 29, 2014
This is version 141 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

External Data

Dasty 3