Entity Details

Primary name DLL4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NR61
EntryNameDLL4_HUMAN
FullNameDelta-like protein 4
TaxID9606
Evidenceevidence at protein level
Length685
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesDLL4

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001525 angiogenesis
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001974 blood vessel remodeling
GO:0003180 aortic valve morphogenesis
GO:0003208 cardiac ventricle morphogenesis
GO:0003209 cardiac atrium morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003344 pericardium morphogenesis
GO:0005112 Notch binding
GO:0005509 calcium ion binding
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0007219 Notch signaling pathway
GO:0007601 visual perception
GO:0008015 blood circulation
GO:0008285 negative regulation of cell population proliferation
GO:0010596 negative regulation of endothelial cell migration
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0016021 integral component of membrane
GO:0030217 T cell differentiation
GO:0035912 dorsal aorta morphogenesis
GO:0035924 cellular response to vascular endothelial growth factor stimulus
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045746 negative regulation of Notch signaling pathway
GO:0045747 positive regulation of Notch signaling pathway
GO:0050767 regulation of neurogenesis
GO:0060579 ventral spinal cord interneuron fate commitment
GO:0061074 regulation of neural retina development
GO:0061314 Notch signaling involved in heart development
GO:0072554 blood vessel lumenization
GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis
GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
GO:2000179 positive regulation of neural precursor cell proliferation

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000742 EGF-like domainDomainDomain
IPR001774 Delta/Serrate/lag-2 (DSL) proteinDomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR009030 Growth factor receptor cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR011651 Notch ligand, N-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616589 OMIMAdams-Oliver syndrome 6 (AOS6)A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions