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"name": {
"name": "Homo sapiens Seipin and similar proteins",
"short": "Seipin_BSCL2_like"
},
"description": [
{
"text": "<p>Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). It acts as a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. Seipin is predicted to contain two transmembrane domains at N-terminus and C-terminus, respectively. Human seipin, also called Bernardinelli-Seip congenital lipodystrophy type 2 protein (BSCL2), may contain a third transmembrane domain in the middle region. Mutations in the seipin gene underlie Human congenital generalized lipodystrophy. Seipin may also be implicated in Silver spastic paraplegia syndrome and distal hereditary motor neuropathy type V. Human seipin exists as an undecamer, and this oligomerization state is critical for its physiological function. Seipin homologs from fungi, plants and insects are also included in this family. There are three SEIPIN homologs in Arabidopsis thaliana, designated SEIPIN1, SEIPIN2, and SEIPIN3. [[cite:PUB00158546], [cite:PUB00158547], [cite:PUB00044745], [cite:PUB00077090], [cite:PUB00077089], [cite:PUB00158549], [cite:PUB00158550]]</p>",
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"PUB00158549": {
"PMID": 21533227,
"ISBN": null,
"volume": "7",
"issue": "4",
"year": 2011,
"title": "Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation.",
"URL": null,
"raw_pages": "e1001364",
"medline_journal": "PLoS Genet",
"ISO_journal": "PLoS Genet",
"authors": [
"Tian Y",
"Bi J",
"Shui G",
"Liu Z",
"Xiang Y",
"Liu Y",
"Wenk MR",
"Yang H",
"Huang X."
],
"DOI_URL": "https://doi.org/10.1371/journal.pgen.1001364"
},
"PUB00158550": {
"PMID": 27564575,
"ISBN": null,
"volume": "5",
"issue": null,
"year": 2016,
"title": "Seipin is required for converting nascent to mature lipid droplets.",
"URL": null,
"raw_pages": "e16582",
"medline_journal": "Elife",
"ISO_journal": "Elife",
"authors": [
"Wang H",
"Becuwe M",
"Housden BE",
"Chitraju C",
"Porras AJ",
"Graham MM",
"Liu XN",
"Thiam AR",
"Savage DB",
"Agarwal AK",
"Garg A",
"Olarte MJ",
"Lin Q",
"Frohlich F",
"Hannibal-Bach HK",
"Upadhyayula S",
"Perrimon N",
"Kirchhausen T",
"Ejsing CS",
"Walther TC",
"Farese RV."
],
"DOI_URL": "https://doi.org/10.7554/eLife.16582"
},
"PUB00077090": {
"PMID": 26362606,
"ISBN": null,
"volume": "27",
"issue": "9",
"year": 2015,
"title": "Arabidopsis SEIPIN Proteins Modulate Triacylglycerol Accumulation and Influence Lipid Droplet Proliferation.",
"URL": null,
"raw_pages": "2616-36",
"medline_journal": "Plant Cell",
"ISO_journal": "Plant Cell",
"authors": [
"Cai Y",
"Goodman JM",
"Pyc M",
"Mullen RT",
"Dyer JM",
"Chapman KD."
],
"DOI_URL": "http://dx.doi.org/10.1105/tpc.15.00588"
},
"PUB00158547": {
"PMID": 30327422,
"ISBN": null,
"volume": "217",
"issue": "12",
"year": 2018,
"title": "Cryo-electron microscopy structure of the lipid droplet-formation protein seipin.",
"URL": null,
"raw_pages": "4080-4091",
"medline_journal": "J Cell Biol",
"ISO_journal": "J Cell Biol",
"authors": [
"Sui X",
"Arlt H",
"Brock KP",
"Lai ZW",
"DiMaio F",
"Marks DS",
"Liao M",
"Farese RV Jr",
"Walther TC."
],
"DOI_URL": "https://doi.org/10.1083/jcb.201809067"
},
"PUB00158546": {
"PMID": 30293840,
"ISBN": null,
"volume": "47",
"issue": "2",
"year": 2018,
"title": "Human SEIPIN Binds Anionic Phospholipids.",
"URL": null,
"raw_pages": "248-256.e4",
"medline_journal": "Dev Cell",
"ISO_journal": "Dev Cell",
"authors": [
"Yan R",
"Qian H",
"Lukmantara I",
"Gao M",
"Du X",
"Yan N",
"Yang H."
],
"DOI_URL": "https://doi.org/10.1016/j.devcel.2018.09.010"
},
"PUB00044745": {
"PMID": 11479539,
"ISBN": null,
"volume": "28",
"issue": "4",
"year": 2001,
"title": "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.",
"URL": null,
"raw_pages": "365-70",
"medline_journal": "Nat Genet",
"ISO_journal": "Nat. Genet.",
"authors": [
"Magre J",
"Delepine M",
"Khallouf E",
"Gedde-Dahl T Jr",
"Van Maldergem L",
"Sobel E",
"Papp J",
"Meier M",
"Megarbane A",
"Bachy A",
"Verloes A",
"d'Abronzo FH",
"Seemanova E",
"Assan R",
"Baudic N",
"Bourut C",
"Czernichow P",
"Huet F",
"Grigorescu F",
"de Kerdanet M",
"Lacombe D",
"Labrune P",
"Lanza M",
"Loret H",
"Matsuda F",
"Navarro J",
"Nivelon-Chevalier A",
"Polak M",
"Robert JJ",
"Tric P",
"Tubiana-Rufi N",
"Vigouroux C",
"Weissenbach J",
"Savasta S",
"Maassen JA",
"Trygstad O",
"Bogalho P",
"Freitas P",
"Medina JL",
"Bonnicci F",
"Joffe BI",
"Loyson G",
"Panz VR",
"Raal FJ",
"O'Rahilly S",
"Stephenson T",
"Kahn CR",
"Lathrop M",
"Capeau J; BSCL Working Group."
],
"DOI_URL": "http://dx.doi.org/10.1038/ng585"
},
"PUB00077089": {
"PMID": 22269949,
"ISBN": null,
"volume": "32",
"issue": "6",
"year": 2012,
"title": "Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation.",
"URL": null,
"raw_pages": "1099-111",
"medline_journal": "Mol Cell Biol",
"ISO_journal": "Mol. Cell. Biol.",
"authors": [
"Chen W",
"Chang B",
"Saha P",
"Hartig SM",
"Li L",
"Reddy VT",
"Yang Y",
"Yechoor V",
"Mancini MA",
"Chan L."
],
"DOI_URL": "http://dx.doi.org/10.1128/MCB.06465-11"
}
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