Gene Gene information from NCBI Gene database.
Entrez ID 51099
Gene name Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Gene symbol ABHD5
Synonyms (NCBI Gene)
CGI58IECN2NCIE2
Chromosome 3
Chromosome location 3p21.33
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 ot
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs28939077 A>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs28939078 G>A Pathogenic Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs104893675 C>G Pathogenic 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs387906335 ->C Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs752473449 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
522
miRTarBase ID miRNA Experiments Reference
MIRT002698 hsa-miR-124-3p Microarray 15685193
MIRT002698 hsa-miR-124-3p Microarray 18668037
MIRT002698 hsa-miR-124-3p Microarray 15685193
MIRT031166 hsa-miR-19b-3p Sequencing 20371350
MIRT092024 hsa-miR-19a-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IDA 18606822
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IEA
GO:0004806 Function Triacylglycerol lipase activity ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604780 21396 ENSG00000011198
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WTS1
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)
Protein function Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfer of an acyl group on a lysophosphatidic acid (PubMed:18606822). Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosph
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1 76 334 alpha/beta hydrolase fold Domain
Tissue specificity 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:0000269|PubMed:11590543,
Sequence
Sequence length 349
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Regulation of lipolysis in adipocytes  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
178
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABHD5-related disorder Likely pathogenic rs2528725105 RCV003420738
Triglyceride storage disease with ichthyosis Likely pathogenic; Pathogenic rs370301465, rs762662276, rs2528785198, rs908673218, rs104893675, rs1575600969, rs28939077, rs387906335, rs28939078, rs387906336, rs367740710, rs1288452350, rs2528785092, rs761087968, rs1575607298
View all (4 more)
RCV001780637
RCV002466750
RCV005870055
RCV000005676
RCV000005677
RCV000005678
RCV000005679
RCV000005681
RCV000005682
RCV000005683
RCV004556874
RCV004555713
RCV004585163
RCV000758006
RCV001003425
RCV001250145
RCV001250089
RCV001255228
RCV001291295
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs6794697, rs117630969 RCV005917421
RCV005897666
Cholangiocarcinoma Benign rs6794697 RCV005917423
Clear cell carcinoma of kidney Benign rs117630969 RCV005897667
Gastric cancer Benign rs117630969 RCV005897671
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 26087292
Carcinoma Squamous Cell Associate 23478628
Chanarin Dorfman Syndrome Associate 11590543, 14708602, 18644654, 19208393, 21122093, 24628803, 27124600, 29475365, 29843625, 30457558, 31118107, 31883530, 34440338, 35173175, 40275410
Colorectal Neoplasms Inhibit 29026202
Diabetes Gestational Associate 25118138
Dyslipidemias Associate 30954460
Ebstein Anomaly Associate 29843625
Fatty Liver Associate 18644654, 24628803, 31497752, 32542055
Hepatitis C Associate 27124600
Hepatomegaly Associate 24628803