Gene Gene information from NCBI Gene database.
Entrez ID 7920
Gene name Abhydrolase domain containing 16A, phospholipase
Gene symbol ABHD16A
Synonyms (NCBI Gene)
BAT5D6S82ENG26PP199SPG86hBAT5
Chromosome 6
Chromosome location 6p21.33
Summary A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by t
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT020741 hsa-miR-155-5p Proteomics 18668040
MIRT044614 hsa-miR-320a CLASH 23622248
MIRT733181 hsa-miR-4646-5p Immunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting 33875796
MIRT759680 hsa-miR-1182 CLIP-seq
MIRT759681 hsa-miR-1193 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0004620 Function Phospholipase activity IBA
GO:0004620 Function Phospholipase activity IEA
GO:0004620 Function Phospholipase activity ISS
GO:0004622 Function Phosphatidylcholine lysophospholipase activity IDA 25290914
GO:0005515 Function Protein binding IPI 14667819, 25416956, 29892012, 31515488, 32296183, 36217029
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142620 13921 ENSG00000204427
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95870
Protein name Phosphatidylserine lipase ABHD16A (EC 3.1.-.-) (Alpha/beta hydrolase domain-containing protein 16A) (Abhydrolase domain-containing protein 16A) (HLA-B-associated transcript 5) (hBAT5) (Monoacylglycerol lipase ABHD16A) (EC 3.1.1.23) (Protein G5)
Protein function Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1 280 415 alpha/beta hydrolase fold Domain
Sequence
MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSWDTYYQPRALEKHADSI
LALASVFWSISYYSSPFAFFYLYRKGYLSLSKVVPFSHYAGTLLLLLAGVACLRGIGRWT
NPQYRQFITILEATHRNQSSENKRQLANYNFDFRSWPVDFHWEEPSSRKESRGGPSRRGV
ALLRPEPLHRGTADTLLNRVKKLPCQITSYLVAHTLGRRMLYPGSVYLLQKALMPVLLQG
QARLVEECNGRRAKLLACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNAGFYEVGCVSTP
LEAGYSVLGWNHPGFAGSTGVPFPQNEANAMDVVVQFAIHRLGFQPQDIIIYAWSIGGFT
ATWAAMSYPDVSAMILDASFDDLVPLALKVMPDSWRGLVTRTVRQHLNLNNAEQL
CRYQG
PVLLIRRTKDEIITTTVPEDIMSNRGNDLLLKLLQHRYPRVMAEEGLRVVRQWLEASSQL
EEASIYSRWEVEEDWCLSVLRSYQAEHGPDFPWSVGEDMSADGRRQLALFLARKHLHNFE
ATHCTPLPAQNFQMPWHL
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycerolipid metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive complex spastic paraplegia Likely pathogenic rs2151220219 RCV001723249
Complex hereditary spastic paraplegia Pathogenic rs774259910, rs2151256799 RCV001568339
RCV001568340
Spastic paraplegia 86, autosomal recessive Pathogenic rs774259910, rs2151256799, rs2151231096 RCV001826349
RCV001826350
RCV001834545
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABHD16A-related disorder Uncertain significance; Likely benign rs1460290477, rs201865496, rs377441824 RCV003405779
RCV003921545
RCV003951943
Acute myeloid leukemia Likely benign rs139667935 RCV005927450
Clear cell carcinoma of kidney Likely benign rs139667935 RCV005927452
Familial cancer of breast Likely benign rs139667935 RCV005927449
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Curatolo Cilio Pessagno syndrome Associate 34587489
Developmental Disabilities Associate 34587489
Intellectual Disability Associate 34587489
Muscle Spasticity Associate 34587489
Spastic Paraplegia Hereditary Associate 34587489