DPM1

DPM1
Identifikatori
Alijasi	DPM1
Spoljašnji ID	OMIM: 603503 MGI: 1330239 HomoloGene: 2865 GeneCards: DPM1
Genska lokacija (miš)
Hr.	Chromosome 2 (mouse)
Kraj	168,072,511 bp
Obrazac RNK izražavanja
	More reference expression data
Genska ontologija
Molecular function	• transferase activity; • glycosyltransferase activity; • dolichyl-phosphate beta-D-mannosyltransferase activity; • GO:0001948, GO:0016582 везивање за протеине плазме; • dolichyl-phosphate-mannose-protein mannosyltransferase activity;
Cellular component	• endoplasmic reticulum membrane; • мембрана; • ендоплазматични ретикулум; • dolichol-phosphate-mannose synthase complex; • једро;
Biological process	• protein O-linked mannosylation; • protein N-linked glycosylation via asparagine; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • GPI anchor biosynthetic process; • protein mannosylation; • dolichol metabolic process;
	Sources:Amigo / QuickGO
Ortolozi
	8813
	13480
	ENSG00000000419
	ENSMUSG00000078919
	O60762
	O70152
	NM_003859; NM_001317034; NM_001317035; NM_001317036
	NM_010072; NM_001310084
	NP_001303963; NP_001303964; NP_001303965; NP_003850
	NP_001297013; NP_034202
	Wikidata
View/Edit Human	View/Edit Mouse

Dolihol-fosfat manoziltransferaza je enzim koji je kod ljudi kodiran DPM1 genom.^[4]^[5]^[6]

Funkcija

Dolihol-fosfatna manoza (Dol-P-Man) služi kao donator manozilnih ostataka na lumenalnoj strani endoplazmatskog retikuluma (ER). Nedostatak Dol-P-Man rezultira defektnom površinskom ekspresijom GPI-usidrenih proteina. Dol-P-Man se sintetiše iz GDP-manoze i dolihol-fosfata na citosolnoj strani ER pomoću enzima dolihil-fosfat manoziltransferaze. Humanom DPM1 nedostaje karboksi-terminalni transmembranski domen i signalna sekvenca, i regulisan je pomoću DPM2.^[6]

Model organisms

Modelni organizmi su korišćeni u proučavanju funkcije DPM1. Uslovna nokaut linija miša pod nazivom Dpm1^{tm1b(KOMP)Wtsi} je generisana na Velkaom Trast Sanger institutu.^[7] Mužjaci i ženke su podvrgnuti standardizovanom fenotipskom pregledu^[8] da bi se utvrdili efekti delecije.^[9]^[10]^[11]^[12]

Reference

^ ^а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000078919 - Ensembl, May 2017
^ „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Colussi PA, Taron CH, Mack JC, Orlean P (јул 1997). „Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe”. Proceedings of the National Academy of Sciences of the United States of America. 94 (15): 7873—8. Bibcode:1997PNAS...94.7873C. PMC 21522 . PMID 9223280. doi:10.1073/pnas.94.15.7873 .
^ Tomita S, Inoue N, Maeda Y, Ohishi K, Takeda J, Kinoshita T (април 1998). „A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells”. The Journal of Biological Chemistry. 273 (15): 9249—54. PMID 9535917. doi:10.1074/jbc.273.15.9249.
^ ^а ^б „Entrez Gene: DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit”.
^ Gerdin AK (2010). „The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice”. Acta Ophthalmologica. 88: 925—7. S2CID 85911512. doi:10.1111/j.1755-3768.2010.4142.x.
^ „International Mouse Phenotyping Consortium”.
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (јун 2011). „A conditional knockout resource for the genome-wide study of mouse gene function”. Nature. 474 (7351): 337—42. PMC 3572410 . PMID 21677750. doi:10.1038/nature10163.
^ Dolgin E (јун 2011). „Mouse library set to be knockout”. Nature. 474 (7351): 262—3. PMID 21677718. doi:10.1038/474262a .
^ Collins FS, Rossant J, Wurst W (јануар 2007). „A mouse for all reasons”. Cell. 128 (1): 9—13. PMID 17218247. S2CID 18872015. doi:10.1016/j.cell.2006.12.018 .
^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (јул 2013). „Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes”. Cell. 154 (2): 452—64. PMC 3717207 . PMID 23870131. doi:10.1016/j.cell.2013.06.022.

Literatura

Maeda Y, Tomita S, Watanabe R, Ohishi K, Kinoshita T (септембар 1998). „DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate”. The EMBO Journal. 17 (17): 4920—9. PMC 1170821 . PMID 9724629. doi:10.1093/emboj/17.17.4920.
Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH (јануар 2000). „Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)”. The Journal of Clinical Investigation. 105 (2): 191—8. PMC 377427 . PMID 10642597. doi:10.1172/JCI7302.
Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T (јануар 2000). „Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie”. The Journal of Clinical Investigation. 105 (2): 233—9. PMC 377434 . PMID 10642602. doi:10.1172/JCI8691.
Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (јун 2000). „Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3”. The EMBO Journal. 19 (11): 2475—82. PMC 212771 . PMID 10835346. doi:10.1093/emboj/19.11.2475.
García-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P (2005). „Congenital disorder of glycosylation (CDG) type Ie. A new patient”. Journal of Inherited Metabolic Disease. 27 (5): 591—600. PMID 15669674. S2CID 5878710. doi:10.1023/B:BOLI.0000042984.42433.d8.
Ashida H, Maeda Y, Kinoshita T (јануар 2006). „DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3”. The Journal of Biological Chemistry. 281 (2): 896—904. PMID 16280320. doi:10.1074/jbc.M511311200 .
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (новембар 2006). „Global, in vivo, and site-specific phosphorylation dynamics in signaling networks”. Cell. 127 (3): 635—48. PMID 17081983. S2CID 7827573. doi:10.1016/j.cell.2006.09.026 .
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). „Large-scale mapping of human protein-protein interactions by mass spectrometry”. Molecular Systems Biology. 3 (1): 89. PMC 1847948 . PMID 17353931. doi:10.1038/msb4100134.

Spoljašnje veze

GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

[refGRCm38Ensembl-1] а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000078919 - Ensembl, May 2017

[2] „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9223280-4] Colussi PA, Taron CH, Mack JC, Orlean P (јул 1997). „Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe”. Proceedings of the National Academy of Sciences of the United States of America. 94 (15): 7873—8. Bibcode:1997PNAS...94.7873C. PMC 21522 . PMID 9223280. doi:10.1073/pnas.94.15.7873 .

[pmid9535917-5] Tomita S, Inoue N, Maeda Y, Ohishi K, Takeda J, Kinoshita T (април 1998). „A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells”. The Journal of Biological Chemistry. 273 (15): 9249—54. PMID 9535917. doi:10.1074/jbc.273.15.9249.

[entrez-6] а ^б „Entrez Gene: DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit”.

[mgp_reference-7] Gerdin AK (2010). „The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice”. Acta Ophthalmologica. 88: 925—7. S2CID 85911512. doi:10.1111/j.1755-3768.2010.4142.x.

[IMPCsearch_ref-8] „International Mouse Phenotyping Consortium”.

[pmid21677750-9] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (јун 2011). „A conditional knockout resource for the genome-wide study of mouse gene function”. Nature. 474 (7351): 337—42. PMC 3572410 . PMID 21677750. doi:10.1038/nature10163.

[mouse_library-10] Dolgin E (јун 2011). „Mouse library set to be knockout”. Nature. 474 (7351): 262—3. PMID 21677718. doi:10.1038/474262a .

[mouse_for_all_reasons-11] Collins FS, Rossant J, Wurst W (јануар 2007). „A mouse for all reasons”. Cell. 128 (1): 9—13. PMID 17218247. S2CID 18872015. doi:10.1016/j.cell.2006.12.018 .

[pmid23870131-12] White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (јул 2013). „Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes”. Cell. 154 (2): 452—64. PMC 3717207 . PMID 23870131. doi:10.1016/j.cell.2013.06.022.

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