DLL1(Delta Like Canonical Notch Ligand 1)是Notch信号通路中的一个重要配体基因,属于Delta/Serrate/LAG-2(DSL)基因家族。该家族成员均为单次跨膜蛋白,其共同特点是含有多个EGF样重复结构域和一个DSL结构域,能够与Notch受体结合并激活Notch信号通路,从而调控细胞分化、增殖和命运决定等关键生物学过程。DLL1主要在发育过程中表达,参与神经发生、血管形成、造血和免疫系统发育等多种生理功能。其表达产物DLL1蛋白通过与Notch受体(如NOTCH1)结合,触发Notch信号通路的活化,进而影响下游靶基因(如HES1、HEY1)的表达。DLL1的功能异常或突变可导致多种发育缺陷和疾病。例如,DLL1突变与先天性脊柱侧凸、神经管缺陷和某些癌症(如T细胞急性淋巴细胞白血病)相关。当DLL1过表达时,会过度激活Notch信号,可能导致细胞分化异常或肿瘤发生;而降低表达则会抑制Notch信号,影响组织发育和稳态维持。在癌症中,DLL1的异常表达可通过促进肿瘤干细胞特性或血管生成来驱动肿瘤进展。此外,DLL1还与其他信号通路(如Wnt和Hedgehog)存在交叉作用,共同调控发育和疾病过程。
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是所述Notch德尔塔配体的人同系物,并且是三角/锯齿/锯齿状家族的一个成员。它在造血过程介导细胞命运决定的作用。它可能在细胞 - 细胞通信发挥作用。 [由RefSeq的,2008年7月提供]
DLL1基因(以及对应的蛋白质)的细胞分布位置:
DLL1基因的本体(GO)信息:
名称 |
---|
4330 Notch signaling pathway [PATH:hsa04330] |
名称 |
---|
Activated NOTCH1 Transmits Signal to the Nucleus |
Constitutive Signaling by NOTCH1 HD Domain Mutants |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
Constitutive Signaling by NOTCH1 PEST Domain Mutants |
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant |
Disease |
Diseases of signal transduction |
NOTCH2 Activation and Transmission of Signal to the Nucleus |
Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor |
Signal Transduction |
Signaling by NOTCH |
Signaling by NOTCH1 |
Signaling by NOTCH1 HD Domain Mutants in Cancer |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
Signaling by NOTCH1 in Cancer |
Signaling by NOTCH1 PEST Domain Mutants in Cancer |
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant |
Signaling by NOTCH2 |
Signaling by NOTCH3 |
Signaling by NOTCH4 |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Semilobar Holoprosencephaly | 0.12 | 0 | 0 | ORPHANET |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Lobar Holoprosencephaly | 0.12 | 0 | 0 | ORPHANET |
Alobar Holoprosencephaly | 0.12 | 0 | 0 | ORPHANET |
Brain Neoplasms | 0.12 | 1 | 0 | CTD_human |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | 0.12 | 0 | 0 | ORPHANET |
Rheumatoid Arthritis | 0.004353001 | 7 | 0 | BeFree_LHGDN |
Acute lymphocytic leukemia | 0.00434307 | 16 | 0 | BeFree |
leukemia | 0.00408156 | 6 | 0 | BeFree_LHGDN |
Myeloid Leukemia | 0.003267234 | 3 | 0 | BeFree_LHGDN |
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