{"metadata":{"accession":"PF14780","entry_id":null,"type":"domain","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR027951","hierarchy":null,"name":{"name":"Nucleolus and neural progenitor protein, N-terminal","short":"NEPRO_N"},"description":[{"text":"<p>This domain is found at the N-terminal of nucleolus and neural progenitor protein (NEPRO) which may play a role in cortex development as part of the Notch signalling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors [[cite:PUB00101272]]. NEPRO may also play a role in preimplentation embryo development [[cite:PUB00101273]]. NEPRO interacts with multiple protein subunits of RMRP and is implicated in Anauxetic dysplasia 3 [[cite:PUB00101274]]. NEPRO is likely the human orthologue of RMP1 subunit from yeast and they share a four-helix bundle domain structure.</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00101273":{"PMID":26178919,"ISBN":null,"volume":"57","issue":"7","year":2015,"title":"Nepro is localized in the nucleolus and essential for preimplantation development in mice.","URL":null,"raw_pages":"529-38","medline_journal":"Dev Growth Differ","ISO_journal":"Dev Growth Differ","authors":["Hashimoto M","Sato T","Muroyama Y","Fujimura L","Hatano M","Saito T."],"DOI_URL":null},"PUB00101274":{"PMID":31250547,"ISBN":null,"volume":"179","issue":"9","year":2019,"title":"An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.","URL":null,"raw_pages":"1709-1717","medline_journal":"Am J Med Genet A","ISO_journal":"Am J Med Genet A","authors":["Narayanan DL","Shukla A","Kausthubham N","Bhavani GS","Shah H","Mortier G","Girisha KM."],"DOI_URL":null},"PUB00101272":{"PMID":19906856,"ISBN":null,"volume":"136","issue":"23","year":2009,"title":"Identification of Nepro, a gene required for the maintenance of neocortex neural progenitor cells downstream of Notch.","URL":null,"raw_pages":"3889-93","medline_journal":"Development","ISO_journal":"Development","authors":["Muroyama Y","Saito T."],"DOI_URL":null}},"set_info":{"accession":"CL0732","name":"RMP1-like"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":29,"interactions":0,"matches":2500,"pathways":0,"proteins":2489,"proteomes":1616,"sets":1,"structural_models":{"alphafold":2260,"bfvd":0},"structures":0,"taxa":5281},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":23,"alignment:full":1688},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}