| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 51099 |
Name | ABHD5 |
Synonym | CDS|CGI58|IECN2|NCIE2;abhydrolase domain containing 5;ABHD5;abhydrolase domain containing 5 |
Definition | 1-acylglycerol-3-phosphate O-acyltransferase ABHD5|abhydrolase domain-containing protein 5|lipid droplet-binding protein CGI-58 |
Position | 3p21 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | "We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically." |
| More detail of all Human literatures about ABHD5 | |
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Pathways and Diseases |
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Pathway | CDP-diacylglycerol biosynthesis I;BioCyc;PWY-5667 |
Pathway | Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis;PID Reactome;500799 |
Pathway | triacylglycerol biosynthesis;BioCyc;TRIGLSYN-PWY |
Pathway | Metabolism of lipids and lipoproteins;Reactome;REACT:22258 |
Pathway | phosphatidylglycerol biosynthesis II (non-plastidic);BioCyc;PWY4FS-8 |
Disease | Chanarin-Dorfman syndrome;OMIM |
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External Links |
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Links to Entrez Gene | 51099 |
Links to all GeneRIF Items | 51099 |
Links to iHOP | 51099 |
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Sequence Information |
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Nucleotide Sequence |
>51099 : length: 1050 atggcggcggaggaggaggaggtggactctgccgacaccggagagaggtcaggatggcta actggttggctccccacatggtgccctacgtctatatcacaccttaaagaagctgaagag aagatgttaaaatgtgtgccttgcacatacaaaaaagaacctgttcgtatatctaatgga aataaaatatggacactgaagttctctcataatatttcaaataagactccacttgtcctt ctccatggttttggaggaggtcttgggctctgggcactgaattttggagatctttgcacc aacagacctgtctatgcttttgacctattgggttttggacgaagtagtagacccaggttt gacagtgatgcagaagaagtggagaatcagtttgtggaatccattgaagagtggagatgt gccctaggattggacaaaatgatcttgcttgggcacaacctaggtggattcttggctgct gcttactcgctgaagtacccatcaagggttaatcatctcattttagtggagccttggggt ttccctgaacgaccagaccttgctgatcaagacagaccaattccagtttggatcagagcc ttgggagcagcattgactccctttaaccctttagctggcctaaggattgcaggacccttt ggtttaagtctagtgcagcgtttaaggcctgatttcaaacgaaagtattcttcaatgttc gaagacgatactgtgacagaatacatctaccactgtaatgtgcagactccaagtggtgag acagctttcaagaatatgactattccttatggatgggcaaaaaggccaatgctccagcga attggtaaaatgcaccctgacattccagtttcagtgatctttggcgcccgatcctgcata gatggcaattctggcaccagcatccagtccttacgaccacattcatatgtgaagacaata gctattcttggggcaggacattatgtatatgcagatcaaccagaagaattcaaccagaaa gtaaaggagatctgcgacactgtggactga |
Protein Sequence |
>51099 : length: 349 MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNG NKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRF DSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWG FPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCI DGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD |