DISEASES

Disease-gene associations mined from literature

Literature associating NEURL1 and autosomal dominant non-syndromic intellectual disability 38

NEURL1 [ENSP00000358795]

RING-type E3 ubiquitin transferase NEURL1; Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element- binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway; Ring finger proteins

Synonyms:  NEURL1,  NEURL1p,  hNEURL1,  B4DS86,  NEURL1-001 ...

Linkouts:  STRING  Pharos  UniProt