| Tag | Content |
|---|---|
| UniProt Accession | ABHD5_HUMAN; Q8WTS1; |
| Entrez ID | 51099 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC 2.3.1.51) (Abhydrolase domain-containing protein 5) (Lipid droplet-binding protein CGI-58) |
| Gene Name | ABHD5; NCIE2; CGI-58 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity). |
| Sequence (Fasta) | MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG 60 NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF 120 DSDAEEVENQ FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG 180 FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF 240 EDDTVTEYIY HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI 300 DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 1) | MESH:C536560 ; Chanarin-Dorfman Syndrome |
| HGMD (count: 20) (view all) | CP056930; Chanarin-Dorfman syndrome; Complex rearrangements
CD013343; Chanarin-Dorfman syndrome; Small deletions CD082042; Chanarin-Dorfman syndrome; Small deletions CI013354; Chanarin-Dorfman syndrome; Small insertions CM013304; Chanarin-Dorfman syndrome; Missense/nonsense CM013305; Chanarin-Dorfman syndrome; Missense/nonsense |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 2) | 10 AEEEEVDSADTGERS dbPAF
236 RPDFKRKYSSMFEDD dbPAF |
| Ubiquitination (count: 2) | 283 PMLQRIGKMHPDIPV PLMD
36 PTSISHLKEAEEKML PLMD |
| Network | Interaction | ||
|---|---|---|---|
| A | B | Source | |