• Gene id: 51099

Gene Summary

• Gene Symbol: ABHD5   Gene   UCSC   Ensembl
• Aliases: CGI58, IECN2, NCIE2
• Gene name: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
• Alternate names: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5, abhydrolase domain containing 5, abhydrolase domain-containing protein 5, lipid droplet-binding protein CGI-58, truncated abhydrolase domain-containing protein 5,
• Gene location: 3p21.33 (43690869: 43734370)     Exons: 9     NC_000003.12
• Gene summary(Entrez): 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 ot
• OMIM: 604780

Protein Summary

• Protein general information: Q8WTS1  
  • Name: 1 acylglycerol 3 phosphate O acyltransferase ABHD5 (EC 2.3.1.51) (Abhydrolase domain containing protein 5) (Lipid droplet binding protein CGI 58)
  • Length: 349  
  • Mass: 39096
  • Tissue specificity: Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level). {ECO
• Sequence:

  MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNK
  TPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILL
  GHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLV
  QRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCI
  DGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD

• Structural information:
  • Protein Domains: (77..18-)
    (/note="AB-hydrolase-1)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR029058  IPR000073  
  • STRING: ENSP00000390849
• Other Databases: GeneCards:  ABHD5  Malacards:  ABHD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042171	lysophosphatidic acid acyltransferase activity	IBA	molecular function
GO:0006654	phosphatidic acid biosynthetic process	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0055088	lipid homeostasis	IBA	biological process
GO:0052689	carboxylic ester hydrolase activity	IBA	molecular function
GO:0010898	positive regulation of triglyceride catabolic process	IBA	biological process
GO:0010891	negative regulation of sequestering of triglyceride	IBA	biological process
GO:0005811	lipid droplet	IDA	cellular component
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	IDA	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0005811	lipid droplet	ISS	cellular component
GO:0004806	triglyceride lipase activity	ISS	NOT|molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0010891	negative regulation of sequestering of triglyceride	IEA	biological process
GO:0010898	positive regulation of triglyceride catabolic process	IEA	biological process
GO:0050996	positive regulation of lipid catabolic process	IEA	biological process
GO:0051006	positive regulation of lipoprotein lipase activity	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010898	positive regulation of triglyceride catabolic process	IDA	biological process
GO:0010891	negative regulation of sequestering of triglyceride	IDA	biological process
GO:0042171	lysophosphatidic acid acyltransferase activity	IDA	molecular function
GO:0006654	phosphatidic acid biosynthetic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04923	Regulation of lipolysis in adipocytes

Diseases

Associated diseases	References
Dorfman-Chanarin syndrome	KEGG:H00736
Dorfman-Chanarin syndrome	KEGG:H00736
Autosomal recessive congenital ichthyosis 1	PMID:11590543
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray