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Q9NR61 Proteins EGF-like domain Repeats
Uniprot ID:Q9NR61
Protein name: Delta-like protein 4
Gene : DLL4 UNQ1895/PRO4341
Protein Family:
Squence Length : 685
Sequnce
>Q9NR61 686 MAAASRSASGWALLLLVALWQQRAAGSGVFQLQLQEFINERGVLASGRPCEPGCRTFFRVCLKHFQAVVSPGPCTFGTVSTPVLGTNSFAVRDDSSGGGRNPLQLPFNFTWPGTFSLIIEAWHAPGDDLRPEALPPDALISKIAIQGSLAVGQNWLLDEQTSTLTRLRYSYRVICSDNYYGDNCSRLCKKRNDHFGHYVCQPDGNLSCLPGWTGEYCQQPICLSGCHEQNGYCSKPAECLCRPGWQGRLCNECIPHNGCRHGTCSTPWQCTCDEGWGGLFCDQDLNYCTHHSPCKNGATCSNSGQRSYTCTCRPGYTGVDCELELSECDSNPCRNGGSCKDQEDGYHCLCPPGYYGLHCEHSTLSCADSPCFNGGSCRERNQGANYACECPPNFTGSNCEKKVDRCTSNPCANGGQCLNRGPSRMCRCRPGFTGTYCELHVSDCARNPCAHGGTCHDLENGLMCTCPAGFSGRRCEVRTSIDACASSPCFNRATCYTDLSTDTFVCNCPYGFVGSRCEFPVGLPPSFPWVAVSLGVGLAVLLVLLGMVAVAVRQLRLRRPDDGSREAMNNLSDFQKDNLIPAAQLKNTNQKKELEVDCGLDKSNCGKQQNHTLDYNLAPGPLGRGTMPGKFPHSDKSLGEKAPLRLHSEKPECRISAICSPRDSMYQSVCLISEERNECVIATEV
Domains
DOMAIN 173 217 DSL DOMAIN 218 251 EGF-like 1 DOMAIN 252 282 EGF-like 2 DOMAIN 284 322 EGF-like 3 DOMAIN 324 360 EGF-like 4 DOMAIN 362 400 EGF-like 5 DOMAIN 402 438 EGF-like 6 DOMAIN 440 476 EGF-like 7 DOMAIN 480 518 EGF-like 8
EGF-like sequence regions
218 - 251 PICLSGCHEQNGYCSKPAECLCRPGWQGRLCNEC 252 - 282 IPHNGCRHGTCSTPWQCTCDEGWGGLFCDQD 284 - 322 NYCTHHSPCKNGATCSNSGQRSYTCTCRPGYTGVDCELE 324 - 360 SECDSNPCRNGGSCKDQEDGYHCLCPPGYYGLHCEHS 362 - 400 LSCADSPCFNGGSCRERNQGANYACECPPNFTGSNCEKK 402 - 438 DRCTSNPCANGGQCLNRGPSRMCRCRPGFTGTYCELH 440 - 476 SDCARNPCAHGGTCHDLENGLMCTCPAGFSGRRCEVR 480 - 518 DACASSPCFNRATCYTDLSTDTFVCNCPYGFVGSRCEFP
Function
"Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344)"
Disease
"DISEASE: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"