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{
"metadata": {
"accession": "IPR000434",
"entry_id": null,
"type": "family",
"go_terms": [
{
"identifier": "GO:0016020",
"name": "membrane",
"category": {
"code": "C",
"name": "cellular_component"
}
}
],
"source_database": "interpro",
"member_databases": {
"prints": {
"PR00500": "POLYCYSTIN1"
}
},
"integrated": null,
"hierarchy": {
"accession": "IPR000434",
"name": "Polycystic kidney disease type 1 protein",
"type": "Family",
"children": []
},
"name": {
"name": "Polycystic kidney disease type 1 protein",
"short": "PC1"
},
"description": [
{
"text": "<p>Polycystin-1 (PC1) plays a critical role in renal tubule diameter control. Mutations in the polycystin-1 gene cause cyst formation in human autosomal dominant polycystic kidney disease [[cite:PUB00071543], [cite:PUB00071544]]. It may serve as a cell surface signaling receptor at cell-cell/cell-matrix junctions and as a mechano-sensor in renal primary cilia that activates signalling pathways involved in renal tubular differentiation [[cite:PUB00071542]].</p>\r\n\r\n<p>Polycystin-1 contains an REJ (receptor for egg jelly) domain and a GPS (G protein-coupled receptor proteolytic site) domain in its N-terminal extracellular region (ectodomain). It can be cleaved into N-terminal fragment (NTF) and C-terminal fragment (CTF) at the GPS domain [[cite:PUB00071542]]. The GPS cleavage may play an important role for the biological function of PC1 [[cite:PUB00033611]].</p>",
"llm": false,
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}
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"wikipedia": null,
"literature": {
"PUB00071543": {
"PMID": 8554072,
"ISBN": null,
"volume": "58",
"issue": "1",
"year": 1996,
"title": "Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.",
"URL": null,
"raw_pages": "86-96",
"medline_journal": "Am J Hum Genet",
"ISO_journal": "Am. J. Hum. Genet.",
"authors": [
"Peral B",
"San Millan JL",
"Ong AC",
"Gamble V",
"Ward CJ",
"Strong C",
"Harris PC."
],
"DOI_URL": null
},
"PUB00071542": {
"PMID": 17525154,
"ISBN": null,
"volume": "282",
"issue": "30",
"year": 2007,
"title": "Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.",
"URL": null,
"raw_pages": "21729-37",
"medline_journal": "J Biol Chem",
"ISO_journal": "J. Biol. Chem.",
"authors": [
"Wei W",
"Hackmann K",
"Xu H",
"Germino G",
"Qian F."
],
"DOI_URL": "http://dx.doi.org/10.1074/jbc.M703218200"
},
"PUB00071544": {
"PMID": 22508176,
"ISBN": null,
"volume": "33",
"issue": "8",
"year": 2012,
"title": "Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.",
"URL": null,
"raw_pages": "1239-50",
"medline_journal": "Hum Mutat",
"ISO_journal": "Hum. Mutat.",
"authors": [
"Audrezet MP",
"Cornec-Le Gall E",
"Chen JM",
"Redon S",
"Quere I",
"Creff J",
"Benech C",
"Maestri S",
"Le Meur Y",
"Ferec C."
],
"DOI_URL": "http://dx.doi.org/10.1002/humu.22103"
},
"PUB00033611": {
"PMID": 12482949,
"ISBN": null,
"volume": "99",
"issue": "26",
"year": 2002,
"title": "Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.",
"URL": null,
"raw_pages": "16981-6",
"medline_journal": "Proc Natl Acad Sci U S A",
"ISO_journal": "Proc. Natl. Acad. Sci. U.S.A.",
"authors": [
"Qian F",
"Boletta A",
"Bhunia AK",
"Xu H",
"Liu L",
"Ahrabi AK",
"Watnick TJ",
"Zhou F",
"Germino GG."
],
"DOI_URL": "http://dx.doi.org/10.1073/pnas.252484899"
}
},
"set_info": null,
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"counters": {
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"interactions": 0,
"matches": 10735,
"pathways": 2,
"proteins": 1621,
"proteomes": 722,
"sets": 0,
"structural_models": {
"alphafold": 248,
"bfvd": 0
},
"structures": 9,
"taxa": 2578
},
"entry_annotations": {},
"cross_references": {},
"is_llm": false,
"is_reviewed_llm": false,
"is_updated_llm": false,
"representative_structure": null
}
}
