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DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
DLL1 (Delta Like Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with DLL1 include Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures and Alobar Holoprosencephaly. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is DLL4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005112 | Notch binding | IBA,IPI | 10079256 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10079256 |
GO:0030957 | Tat protein binding | IPI | 15509766 |
GO:0097110 | scaffold protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | NAS | 11823422 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 10079256 |
GO:0005912 | adherens junction | ISS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
3 | Notch Signaling Pathway (WikiPathways) | ||
4 | HIV Life Cycle |
.45
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5 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Development Notch Signaling Pathway
.55
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Development NOTCH1-mediated pathway for NF-KB activity modulation
.55
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001709 | cell fate determination | NAS | 11581320 |
GO:0001756 | somitogenesis | ISS | -- |
GO:0001757 | somite specification | IEA | -- |
GO:0001947 | heart looping | ISS | -- |
GO:0002315 | marginal zone B cell differentiation | ISS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DLL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DLL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dll1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dll1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DLL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DLL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DLL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DLL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dll1 30 |
|
||
Str.15072 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC52561 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dld 30 31 |
|
OneToMany | |
dla 31 |
|
OneToMany | |||
dlb 31 |
|
OneToMany | |||
dlc 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3500 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Dl 30 31 32 |
|
OneToMany | |
CG15388 32 |
|
|
|||
C901 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010265 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | apx-1 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7799 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
982392 | Pathogenic: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 170,289,710(-) |
TG/T NM_005618.4(DLL1):c.152del (p.Pro51fs) |
FRAMESHIFT | |
985068 | Pathogenic: Inborn genetic diseases | 170,283,233(-) |
CCT/C NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) |
FRAMESHIFT | |
985102 | Pathogenic: Inborn genetic diseases | 170,288,307(-) |
TG/T NM_005618.4(DLL1):c.601del (p.His201fs) |
FRAMESHIFT | |
985505 | Uncertain Significance: Inborn genetic diseases | 170,285,662(-) |
A/C NM_005618.4(DLL1):c.769T>G (p.Cys257Gly) |
MISSENSE | |
987099 | Likely Pathogenic: not provided | 170,288,283(-) |
T/TC NM_005618.4(DLL1):c.625dup (p.Glu209fs) |
FRAMESHIFT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
|
|
alobar holoprosencephaly |
|
|
septopreoptic holoprosencephaly |
|
|
midline interhemispheric variant of holoprosencephaly |
|
|
microform holoprosencephaly |
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