2024-04-20 23:31:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016006 5370 bp mRNA linear PRI 04-MAY-2013 DEFINITION Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA. ACCESSION NM_016006 VERSION NM_016006.4 GI:194733760 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 5370) AUTHORS Badin,P.M., Loubiere,C., Coonen,M., Louche,K., Tavernier,G., Bourlier,V., Mairal,A., Rustan,A.C., Smith,S.R., Langin,D. and Moro,C. TITLE Regulation of skeletal muscle lipolysis and oxidative metabolism by the co-lipase CGI-58 JOURNAL J. Lipid Res. 53 (5), 839-848 (2012) PUBMED 22383684 REMARK GeneRIF: an important metabolic function of CGI-58 in skeletal muscle REFERENCE 2 (bases 1 to 5370) AUTHORS Cakmak,E., Alagozlu,H., Yonem,O., Ataseven,H., Citli,S. and Ozer,H. TITLE Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation JOURNAL Clin Res Hepatol Gastroenterol 36 (2), E34-E37 (2012) PUBMED 22245374 REMARK GeneRIF: A report of two Chanarin-Dorfman syndrome sisters with severe steatohepatitis and decompensated cirrhosis due to steatohepatitis in whom the clinical presentation developed due to a new mutation in ABHD5 gene. REFERENCE 3 (bases 1 to 5370) AUTHORS Aggarwal,S., Maras,J.S., Alam,S., Khanna,R., Gupta,S.K. and Ahuja,A. TITLE Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation JOURNAL Eur J Med Genet 55 (3), 173-177 (2012) PUBMED 22373837 REMARK GeneRIF: A novel nonsense mutation of ABHD5 is reported in a consanguineous Afgani family with 4 sibs with Dorfman Chanarin syndrome; the mutation leads to protein truncation by 14 AAs; findings include liver cirrhosis, corneal opacities,tessellated fundus REFERENCE 4 (bases 1 to 5370) AUTHORS Gandotra,S., Lim,K., Girousse,A., Saudek,V., O'Rahilly,S. and Savage,D.B. TITLE Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5) JOURNAL J. Biol. Chem. 286 (40), 34998-35006 (2011) PUBMED 21757733 REMARK GeneRIF: the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity REFERENCE 5 (bases 1 to 5370) AUTHORS Redaelli,C., Coleman,R.A., Moro,L., Dacou-Voutetakis,C., Elsayed,S.M., Prati,D., Colli,A., Mela,D., Colombo,R. and Tavian,D. TITLE Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene JOURNAL Orphanet J Rare Dis 5, 33 (2010) PUBMED 21122093 REMARK GeneRIF: First report of large genomic deletions in the ABHD5 gene in Chanarin-Dorfman syndrome patients from Mediterranean countries. Erratum:[Orphanet J Rare Dis. 2011 Feb 21;6(1):6] Publication Status: Online-Only REFERENCE 6 (bases 1 to 5370) AUTHORS Ben Selma,Z., Yilmaz,S., Schischmanoff,P.O., Blom,A., Ozogul,C., Laroche,L. and Caux,F. TITLE A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome JOURNAL J. Invest. Dermatol. 127 (9), 2273-2276 (2007) PUBMED 17495960 REMARK GeneRIF: analysis of a novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome [case report] REFERENCE 7 (bases 1 to 5370) AUTHORS Yamaguchi,T., Omatsu,N., Morimoto,E., Nakashima,H., Ueno,K., Tanaka,T., Satouchi,K., Hirose,F. and Osumi,T. TITLE CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation JOURNAL J. Lipid Res. 48 (5), 1078-1089 (2007) PUBMED 17308334 REMARK GeneRIF: CGI-58 facilitates lipolysis in cooperation with perilipin and other factors, including lipases REFERENCE 8 (bases 1 to 5370) AUTHORS Lass,A., Zimmermann,R., Haemmerle,G., Riederer,M., Schoiswohl,G., Schweiger,M., Kienesberger,P., Strauss,J.G., Gorkiewicz,G. and Zechner,R. TITLE Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome JOURNAL Cell Metab. 3 (5), 309-319 (2006) PUBMED 16679289 REMARK GeneRIF: CGI-58 interacts with adipose triglyceride lipase, stimulating its TG hydrolase activity up to 20-fold REFERENCE 9 (bases 1 to 5370) AUTHORS Schleinitz,N., Fischer,J., Sanchez,A., Veit,V., Harle,J.R. and Pelissier,J.F. TITLE Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease JOURNAL Arch Dermatol 141 (6), 798-800 (2005) PUBMED 15967942 REMARK GeneRIF: ABDH5 gene mutation is found in patients diagnosed with Chanarin Dorfman syndrome. REFERENCE 10 (bases 1 to 5370) AUTHORS Lefevre,C., Jobard,F., Caux,F., Bouadjar,B., Karaduman,A., Heilig,R., Lakhdar,H., Wollenberg,A., Verret,J.L., Weissenbach,J., Ozguc,M., Lathrop,M., Prud'homme,J.F. and Fischer,J. TITLE Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome JOURNAL Am. J. Hum. Genet. 69 (5), 1002-1012 (2001) PUBMED 11590543 REMARK GeneRIF: mutational analysis in Chanarin-Dorfman syndrome COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG721387.1, BC021958.1, AC105903.2 and AF007132.1. This sequence is a reference standard in the RefSeqGene project. On Jul 31, 2008 this sequence version replaced gi:33469972. Summary: The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC021958.1, AF151816.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-295 BG721387.1 20-314 296-1428 BC021958.1 224-1356 1429-4211 AC105903.2 177600-180382 4212-5370 AF007132.1 315-1473 FEATURES Location/Qualifiers source 1..5370 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p21" gene 1..5370 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /note="abhydrolase domain containing 5" /db_xref="GeneID:51099" /db_xref="HGNC:21396" /db_xref="HPRD:11986" /db_xref="MIM:604780" exon 1..157 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 46 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:186175534" variation 63 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:372014366" variation 66 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:375436268" variation 81 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:367627114" variation 87 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:189850893" variation 89 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:371780182" variation 92 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:117630969" variation 109 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:370013052" CDS 111..1160 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /EC_number="2.3.1.51" /note="lipid droplet-binding protein CGI-58; abhydrolase domain-containing protein 5" /codon_start=1 /product="1-acylglycerol-3-phosphate O-acyltransferase ABHD5" /protein_id="NP_057090.2" /db_xref="GI:31542303" /db_xref="CCDS:CCDS2711.1" /db_xref="GeneID:51099" /db_xref="HGNC:21396" /db_xref="HPRD:11986" /db_xref="MIM:604780" /translation="
MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD
" misc_feature 111..1145 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /note="hydrolase, alpha/beta fold family protein; Region: PLN02894" /db_xref="CDD:178482" misc_feature 1089..1106 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8WTS1.1); Region: HXXXXD motif" variation 114 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:372312565" variation 121 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:138400599" variation 122 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:141365045" variation 129 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:104893676" variation 132 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:376333756" variation 136 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:144420157" variation 138 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:145281193" variation 140 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:142160005" variation 142 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:369657976" variation 146 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:202004711" variation 149 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:140969259" variation 152 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:138695912" variation 155 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:140733773" variation 156..157 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="ag" /db_xref="dbSNP:387906336" exon 158..243 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 189 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:376238187" variation 197 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:138443653" variation 200 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:144312381" variation 204 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:368924701" variation 208 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:104893675" exon 244..616 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 255 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:141184431" variation 269 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:201554978" variation 311 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:200927822" variation 312 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:115209685" variation 325 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:2302349" variation 331 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:147218153" variation 332 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:201137660" variation 338 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:377718797" variation 355 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:145548259" variation 376 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:369683357" variation 410 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:148750021" variation 451 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:148743497" variation 472 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:371138384" variation 482 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:146635810" variation 499 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:28939077" variation 506 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:373148191" variation 509 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:200595589" variation 537 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:374480855" variation 550 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:141535425" variation 557 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:376683599" variation 558 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:373933908" variation 559 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:141383973" variation 599 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:377223020" exon 617..771 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 629 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:372094906" variation 660 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:138876970" variation 661 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:185446640" variation 674 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:368316517" variation 704..705 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="c" /db_xref="dbSNP:387906335" variation 707 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:113036750" variation 738 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:189968197" exon 772..883 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 790 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:143489624" variation 811 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:369577285" variation 825 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:189325485" variation 836 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:372085621" variation 841 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:376368923" exon 884..1070 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 888 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:28939078" variation 896 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:377553984" variation 904 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:369544279" variation 948 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:370301465" variation 989 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:147129794" variation 996 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:140627711" variation 1051 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:368953991" exon 1071..5353 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /inference="alignment:Splign:1.39.8" variation 1085 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:150779542" variation 1123 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:146813854" STS 1137..1276 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="SHGC-76892" /db_xref="UniSTS:62650" variation 1148 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:368305449" variation 1152 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:371935807" variation 1165 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:143080404" variation 1189 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:376897300" variation 1198 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:887472" variation 1256 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:145145864" variation 1307 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:74367890" variation 1323..1324 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="g" /db_xref="dbSNP:35266874" variation 1430 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:374866960" variation 1431 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:138528340" variation 1441 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:34226283" variation 1552 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:192816274" variation 1556 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:184361530" variation 1609 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:141484969" variation 1647 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:11712342" variation 1653 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="g" /db_xref="dbSNP:200211956" variation 1682 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:188895073" variation 1897 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:192696923" variation 1925 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:115721641" STS 1979..2107 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="SHGC-76879" /db_xref="UniSTS:20090" variation 2008 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:114083722" variation 2072 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:184630690" variation 2171 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:373123930" STS 2189..2292 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="SHGC-76893" /db_xref="UniSTS:54991" variation 2236 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:189602319" variation 2270 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:2191361" variation 2275..2276 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="t" /db_xref="dbSNP:372643079" variation 2398 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:180941201" variation 2448 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:185972954" variation 2491 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:115156029" variation 2505..2507 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="tag" /db_xref="dbSNP:67511957" variation 2506..2508 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="agt" /db_xref="dbSNP:58997366" variation 2577 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:3733156" variation 2645 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:189585954" variation 2773 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:12491747" variation 2793 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:368470132" variation 2822 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:117110703" variation 2889 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:139091067" variation 2916 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:34048061" variation 2917 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:113347419" variation 2918..2919 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="g" /db_xref="dbSNP:34011416" variation 2919..2920 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="g" /db_xref="dbSNP:377299688" variation 2953 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:149517586" variation 2994 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:12488350" variation 3023 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:12488392" variation 3117 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:144021874" STS 3171..3298 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="WI-14732" /db_xref="UniSTS:39168" variation 3224 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:148657202" variation 3269 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:190545723" variation 3288 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:62253040" variation 3297 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:144521114" variation 3321 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:370736554" variation 3344 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:183518530" variation 3399 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:186484499" STS 3400..3500 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="SHGC-76877" /db_xref="UniSTS:4706" variation 3467 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:375122733" variation 3484 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:17075919" variation 3623 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:76200032" STS 3635..3742 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="SHGC-57882" /db_xref="UniSTS:10708" variation 3650 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:192172748" variation 3668 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:75590382" STS 3796..3940 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="STS-N63539" /db_xref="UniSTS:21255" variation 3869 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="a" /db_xref="dbSNP:201589254" variation 4078 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:182573852" variation 4086 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:187702555" variation 4095 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:10433606" variation 4102 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:192781060" variation 4190..4191 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="a" /db_xref="dbSNP:370900737" variation 4222 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:147840032" variation 4296 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:182509513" variation 4408..4409 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="" /replace="c" /db_xref="dbSNP:34247270" variation 4413 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:10433548" variation 4463 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:368870978" variation 4494 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="g" /db_xref="dbSNP:187478578" variation 4507 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:192037837" variation 4775 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:184227734" variation 4992 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:140754839" STS 5088..5165 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="STS-F10866" /db_xref="UniSTS:2824" STS 5089..5337 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /standard_name="RH79809" /db_xref="UniSTS:92954" variation 5112 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="g" /db_xref="dbSNP:758729" variation 5115 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:144617930" variation 5125 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="g" /replace="t" /db_xref="dbSNP:112903046" variation 5158 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="t" /db_xref="dbSNP:374838083" variation 5241 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:190485367" variation 5307 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="a" /replace="c" /db_xref="dbSNP:758728" polyA_signal 5336..5341 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" variation 5349 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" /replace="c" /replace="t" /db_xref="dbSNP:113711457" polyA_site 5353 /gene="ABHD5" /gene_synonym="CDS; CGI58; IECN2; NCIE2" ORIGIN
cgcatgcgctggcggcctgcgccgccttaagtgccgcgccagcccggggcggcccagtcggcctgtcagccggcttcgagataagtcccggcgcttgcgcggcggcggctatggcggcggaggaggaggaggtggactctgccgacaccggagagaggtcaggatggctaactggttggctccccacatggtgccctacgtctatatcacaccttaaagaagctgaagagaagatgttaaaatgtgtgccttgcacatacaaaaaagaacctgttcgtatatctaatggaaataaaatatggacactgaagttctctcataatatttcaaataagactccacttgtccttctccatggttttggaggaggtcttgggctctgggcactgaattttggagatctttgcaccaacagacctgtctatgcttttgacctattgggttttggacgaagtagtagacccaggtttgacagtgatgcagaagaagtggagaatcagtttgtggaatccattgaagagtggagatgtgccctaggattggacaaaatgatcttgcttgggcacaacctaggtggattcttggctgctgcttactcgctgaagtacccatcaagggttaatcatctcattttagtggagccttggggtttccctgaacgaccagaccttgctgatcaagacagaccaattccagtttggatcagagccttgggagcagcattgactccctttaaccctttagctggcctaaggattgcaggaccctttggtttaagtctagtgcagcgtttaaggcctgatttcaaacgaaagtattcttcaatgttcgaagacgatactgtgacagaatacatctaccactgtaatgtgcagactccaagtggtgagacagctttcaagaatatgactattccttatggatgggcaaaaaggccaatgctccagcgaattggtaaaatgcaccctgacattccagtttcagtgatctttggcgcccgatcctgcatagatggcaattctggcaccagcatccagtccttacgaccacattcatatgtgaagacaatagctattcttggggcaggacattatgtatatgcagatcaaccagaagaattcaaccagaaagtaaaggagatctgcgacactgtggactgaacacactgaagctctgatgggaaaacctggtgactgatatagttgttcagcaataattcatagtctgtgatgaagagtagtgaatacaacacacaaccaggcagccttcttgactatactttgcacatgttttctttaggaattcactcacacatttaaaccagttagtgccttctagaagaatggctttcctttctcctacacaaaattgaaatatacaagtctctaaatataatacctttaaataaaaggttatttgtccctctgatgtactgaaaaactgtaatttttcagctgaaaattttttaatctaactttgctagttatttttatattgcaatctatattaccaatttaggaagtgatttctgagtctcttacactgtaaaggtgcactttattttctttgtcttccccatcatgtatttattgtgtcttgataactgatattaatctaaattcaatgtgtttttatgtaaaaatttgtcagttgtttagaatatttcactttgtttttgaaacggagtgacaaggcagatttttggttagaggacgggagttgatcactatcattactttttctagtttacctgttttttatatttaaggctgctaagccatgttcagcattttaaatgtggtctatcctgacatacagtgtataacaacataactccttggaacctcctatgtgtggtataattctactcttccaaggaacatgacttcaatactttcagtgattcaggtactgaaaagccttacctaaaaggctgttctttgtttccccctttcatactattcttttccatgacccaggatgcagcaaatgaaacagatttcttctcttaaggggatattaagactgttacttcctagtaagccaagtaataccatatttttattaacatctaacttttgtagatgggtgctaaaattgcatacattttaaccactaaaatagaaaaacaagtggtgctattatgtctcatggcaccagaaatgagctagcacttgggtttgttgttgctgttgtttattaagagtattgtgttaattaaatcattacatacttgaagttatattacaaaaattctagaaggttgattgaactatttttttaggaactaccatcaagtgtagcattttcttgcagttttaaaatgaggaaaacttctttgaaactgtgaaatgctccatgtggtaactggctgctgagaaaacccttcaccaaaaaaataaataaaaattgaataggattgtcatcaagaaggcatctttcgctaacgttgcttgtctaggagaaaggtagctatgtaaataaaaacagtgaactagagcaaatagtggtttaatggttttgttattgcatttttaaaatggttaattagggaatttgtagttgttaggaaatgtaaggttgtgtcactgttgattaactgccagaaagactgaatgttctattttcaacatttctcccctataaaagaatagacaaattatactgaagcatgatataaacatcttcccaatgaacaatttgtctcacttgtcagattaactaggttagtgcaggaagcaacatgagcgccaagatgtgttgtctgatttctctaccttaagaacaataatagtctttttagttagtattttggatggccaggtttcaaacctgtatgtggtacaaataatttgggtaatatttttgtatttttgttttacacactctctaatctcaattatcctttgctgggagaatgacaggtttcacttatacaggaaggtttttgcacaggaaatttggtcccagcccttggaaggaagaagttccttcgtttacttagtgaatggagtttctggccgcagatgtgccaagtgattgaagaaagatataccccaatatcaagtgataatttattttcctacagactgaatttgctttatttgaaagatgttgtaactctttttaaagttagattttaccctgaggtatagtatatgtaattttgtgaagattgagctggaagggaagttcacaatcctcacatttaaaaaaatatagtgggtgctaaatgttttcttaaaaatctagtacagcatttgatctttgttatgcacagcatacttttattttacagaataaattttcctgtgatagtcacaacaagacagctgtatagtttcttgagtcttttgtatggaccagtctctgtataatagttaactacaggactgtggatccagcaaatgttcagtaaatgctgctgttgttcttagggaaggctactctgggtgttgtggccgccatacatggctttacctgggtccatgcattcccttaagatgacttctgttttcttcttttttcttctgattttccaaaaaaaaaaaagccttgcctaaggttggttttagaatatgatttgcagaacacttttgaaatgtcttcattcatatatgtaatatatatttatacttaaagggccatacgcgatttcaataaaacaagaagtactggaaagaataaacaaaaatagccagaagatgcctagaaaagaacaatgtggaaggagggataaccctattaaatattataacataatgtttacaatatgagaaagtctaggaatttagtacatgataaagcatctcattcagagaaaaaggctttaaaaatggtgttgagagaagtgtggttaaccatttggaaaaaaaaataaaattgaatcgatttctcacaggatacacaggataaaatctgaatagaacaaagacccaatttttaaaatgaaaccctctttctaactagaagaaaacatagatgaattattgtataatctgacagtgagaaaaactttcctaggactgaaaattcagaagcaataaaaagagaagtctatagaagaattttcagccagatggaatggctcatggctgtaatcccagcattttgggaggctgaggcagaaggactgcttgagaccaggaattcaaaaccaacctgggcaacctagtaggactggctctaccaaaaaaaaaaaaaaaaaaaaattaagtacctggcctgggttccacctacttgggaggctgaggtaggaggactgtgagcccaggagtttgaggatgcagtaagccactgcactccagcctgggtgacagagaagaaaaaagatttttttggatagctgaaaatatttgcagcatttatcacagagggctaattgtagccctatatatgaagaattttaaactatgagaagaacccgaagaataggcaaaaggatgtgaacagacagttaacagaaaatagaatgcaaatggtctttaaacatacaaggatatgcataaaaagacaaatgcaaaataaaataaaataatggaaatacctttcttacctgtgagattggggaaaatccaagttaggcaatgcactctgttgagacaatagggaaacaggcactccaaaaattacaaatccctgtggatggtatttgttaactagcaaagttaaatgagtatatccttcaacctggcagacccagttctaagaatccatatgagatgcacttgcaagaatatgaaatagtatatgcacaaagatcttgattacagcactgtttctaatagctacagactggaagccagccaaatctccattgatagggaattgatggaaggaactagggtatatctatacaatgggatactacacagctgtagaaaggactgcgaactatttttgtagttctggtctggagaaatctccagaatataggaaatgaaaaatgtaaagcacagaagagaatgtatggtgtgctgtctgttgtataacgaagagacaaatggaaaaaatatgtatttgctttttttgtaaagcaatagaagaattagttataccaataactaataaaatgatctccttgttagtggtggtagggagctagacaaggatggcaactatttctgtatcttacataccttttattttgaggccctgtcaatgttttatataataaacattttttgaaaaggcaactcttaaaactaaaacaaacttaacagtctgtcaagttggtgatataaccccacagaagacttacttcaagtgacttgaaaacttagtattttgtctgtactttgctaatggaatatatcctacagaccaaacaaccacaaataaatcttaaactgcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:51099 -> Molecular function: GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity] evidence: IEA GeneID:51099 -> Molecular function: GO:0004806 [triglyceride lipase activity] evidence: ISS GeneID:51099 -> Molecular function: GO:0042171 [lysophosphatidic acid acyltransferase activity] evidence: IDA GeneID:51099 -> Biological process: GO:0006631 [fatty acid metabolic process] evidence: IEA GeneID:51099 -> Biological process: GO:0006654 [phosphatidic acid biosynthetic process] evidence: IDA GeneID:51099 -> Biological process: GO:0010891 [negative regulation of sequestering of triglyceride] evidence: IDA GeneID:51099 -> Biological process: GO:0010898 [positive regulation of triglyceride catabolic process] evidence: IDA GeneID:51099 -> Biological process: GO:0019433 [triglyceride catabolic process] evidence: TAS GeneID:51099 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA GeneID:51099 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:51099 -> Biological process: GO:0051006 [positive regulation of lipoprotein lipase activity] evidence: IEA GeneID:51099 -> Cellular component: GO:0005811 [lipid particle] evidence: ISS GeneID:51099 -> Cellular component: GO:0005829 [cytosol] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_057090 -> EC 2.3.1.51
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