Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51099
Gene name Gene Name - the full gene name approved by the HGNC.
Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABHD5
Synonyms (NCBI Gene) Gene synonyms aliases
CGI58, IECN2, NCIE2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604780 21396 ENSG00000011198
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Triglyceride Storage Disease With Ichthyosis triglyceride storage disease with ichthyosis rs104893675, rs1575600969, rs28939077, rs387906335, rs28939078, rs387906336, rs761087968, rs1575607298, rs754573124, rs908673218 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gastroesophageal Reflux Disease Gastroesophageal reflux disease N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Associations from Text Mining Disease 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