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InterPro-Version: 108.0
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{
"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
}
}
