ABHD5

ABHD5
معین‌کننده‌ها
نام‌های دیگر	ABHD5, CDS, CGI58, IECN2, NCIE2, abhydrolase domain containing 5, abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
شناسه‌های بیرونی	OMIM: 604780 MGI: 1914719 HomoloGene: 41088 GeneCards: ABHD5
موقعیت ژن (موش)
کروموزوم	کروموزوم ۹ (موش)
پایان	122,210,589 bp
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• transferase activity; • 1-acylglycerol-3-phosphate O-acyltransferase activity; • triglyceride lipase activity; • lysophosphatidic acid acyltransferase activity; • acyltransferase activity; • GO:0004091 carboxylic ester hydrolase activity;
ترکیبات سلولی	• lipid droplet; • سیتوپلاسم; • سیتوزول;
فرایند زیستی	• phosphatidic acid biosynthetic process; • دگرگونی یاخته‌; • سوخت‌وساز لیپید; • Synthesis saturated fatty acids by metabolites; • phospholipid biosynthetic process; • negative regulation of sequestering of triglyceride; • positive regulation of triglyceride catabolic process; • positive regulation of lipid catabolic process; • positive regulation of lipoprotein lipase activity; • lipid homeostasis;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	51099
	67469
	ENSG00000011198
	ENSMUSG00000032540
	Q8WTS1
	Q9DBL9
	NM_001355186، NM_001365649، NM_001365650، NR_158560، XM_047448243، XR_007095689، XR_007095690، XR_007095691 NM_016006، NM_001355186، NM_001365649، NM_001365650، NR_158560، XM_047448243، XR_007095689، XR_007095690، XR_007095691
	NM_001359207، NR_152865، XM_030244526 NM_026179، NM_001359207، NR_152865، XM_030244526
	NP_001342115، NP_001352578، NP_001352579 NP_057090، NP_001342115، NP_001352578، NP_001352579
	NP_001346136، XP_030100386 NP_080455، NP_001346136، XP_030100386
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

۱-آسیل‌گلیسرول-۳-فسفات-O-آسیل‌ترانسفراز ABHD5 (به انگلیسی: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5) یک آنزیم است که در انسان توسط ژن «ABHD5» کدگذاری می‌شود.^[۴]^[۵]

جهش در این ژن موجب بروز یکی از انواع بیماری ذخیره چربی خنثی می‌گردد که در آن، اکسیداسیون اسید چرب با زنجیرهٔ بلند دچار اختلال است.^[۵]^[۶]

منابع

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032540 - 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.
↑ Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid". The Journal of Biological Chemistry. 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMC 3259832. PMID 18606822.
1 2 "Entrez Gene: ABHD5 abhydrolase domain containing 5".
↑ Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J (Nov 2001). "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome". American Journal of Human Genetics. 69 (5): 1002–12. doi:10.1086/324121. PMC 1274347. PMID 11590543.

مشارکت‌کنندگان ویکی‌پدیا. «ABHD5». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۲ ژوئیه ۲۰۱۸.

پیوند به بیرون

مکان ژنوم ABHD5 انسانی و صفحهٔ جزئیات ژنی ABHD5 در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

بیشتر بخوانید

Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF (Jun 2005). "Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease". Archives of Dermatology. 141 (6): 798–800. doi:10.1001/archderm.141.6.798. PMID 15967942.
Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R (May 2006). "Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome". Cell Metabolism. 3 (5): 309–19. doi:10.1016/j.cmet.2006.03.005. PMID 16679289.
Yamaguchi T, Omatsu N, Morimoto E, Nakashima H, Ueno K, Tanaka T, Satouchi K, Hirose F, Osumi T (May 2007). "CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation". Journal of Lipid Research. 48 (5): 1078–89. doi:10.1194/jlr.M600493-JLR200. PMID 17308334.
Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L, Caux F (Sep 2007). "A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome". The Journal of Investigative Dermatology. 127 (9): 2273–6. doi:10.1038/sj.jid.5700860. PMID 17495960.
Fischer J, Negre-Salvayre A, Salvayre R (2007). "[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]". Médecine Sciences. 23 (6–7): 575–8. doi:10.1051/medsci/20072367575. PMID 17631826.

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032540 - 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.

[pmid18606822-4] Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid". The Journal of Biological Chemistry. 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMC 3259832. PMID 18606822.

[entrez-5] 1 2 "Entrez Gene: ABHD5 abhydrolase domain containing 5".

[pmid11590543-6] Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J (Nov 2001). "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome". American Journal of Human Genetics. 69 (5): 1002–12. doi:10.1086/324121. PMC 1274347. PMID 11590543.

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