ABHD8 (abhydrolase domain containing 8)

Gene

• Entrez ID: 79575
• Gene name: Abhydrolase domain containing 8
• Gene symbol: ABHD8
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT760214	hsa-miR-1976	CLIP-seq
MIRT760215	hsa-miR-3126-5p	CLIP-seq
MIRT760216	hsa-miR-3155	CLIP-seq
MIRT760217	hsa-miR-3155b	CLIP-seq
MIRT760218	hsa-miR-3158-5p	CLIP-seq
MIRT760219	hsa-miR-3166	CLIP-seq
MIRT760220	hsa-miR-3181	CLIP-seq
MIRT760221	hsa-miR-3182	CLIP-seq
MIRT760222	hsa-miR-323-5p	CLIP-seq
MIRT760223	hsa-miR-3686	CLIP-seq
MIRT760224	hsa-miR-370	CLIP-seq
MIRT760225	hsa-miR-4419a	CLIP-seq
MIRT760226	hsa-miR-4510	CLIP-seq
MIRT760227	hsa-miR-4527	CLIP-seq
MIRT760228	hsa-miR-4710	CLIP-seq
MIRT760229	hsa-miR-4726-3p	CLIP-seq
MIRT760230	hsa-miR-4771	CLIP-seq
MIRT760231	hsa-miR-484	CLIP-seq
MIRT760232	hsa-miR-624	CLIP-seq
MIRT1924160	hsa-miR-3194-5p	CLIP-seq
MIRT760224	hsa-miR-370	CLIP-seq
MIRT1924161	hsa-miR-3943	CLIP-seq
MIRT1924162	hsa-miR-566	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 39225180
GO:0005737	Component	Cytoplasm	IDA	39225180
GO:0005737	Component	Cytoplasm	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042171	Function	Lysophosphatidic acid acyltransferase activity	IBA
GO:0052689	Function	Carboxylic ester hydrolase activity	IBA
GO:0055088	Process	Lipid homeostasis	IBA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IMP	39225180

Other IDs

• MIM: 621036
• HGNC: 23759
• e!Ensembl: ENSG00000127220

Protein

• UniProt ID: Q96I13
• Protein name: Protein ABHD8 (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 8) (Abhydrolase domain-containing protein 8)
• Protein function: Negatively regulates NLRP3-driven inflammation (PubMed:39225180). Promotes NLRP3 degradation through the chaperone-mediated autophagy (CMA) pathway, hence attenuating inflammasome activation and IL1B secretion. Acts by recruiting palmitoyltransf
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00561	Abhydrolase_1	176 → 297	alpha/beta hydrolase fold	Domain

• Sequence:

  MLTGVTDGIFCCLLGTPPNAVGPLESVESSDGYTFVEVKPGRVLRVKHAGPAPAAAPPPP
  SSASSDAAQGDLSGLVRCQRRITVYRNGRLLVENLGRAPRADLLHGQNGSGEPPAALEVE
  LADPAGSDGRLAPGSAGSGSGSGSGGRRRRARRPKRTIHIDCEKRITSCKGAQADVVLFF
  IHGVGGSLAIWKEQLDFFVRLGYEVVAPDLAGHGASSAPQVAAAYTFYALAEDMRAIFKR
  YAKKRNVLIGHSYGVSFCTFLAHEYPDLVHKVIMINGGGPTALEPSFCSIFNMPTCVLHC
  LSPCLAWSFLKAGFARQGAKEKQLLKEGNAFNVSSFVLRAMMSGQYWPEGDEVYHAELTV
  PVLLVHGMHDKFVPVEEDQRMAEILLLAFLKLIDEGSHMVMLECPETVNTLLHEFLLWEP
  EPSPKALPEPLPAPPEDKK

• Sequence length: 439

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30559148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30559148		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30559148		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27601076	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	23273568		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	23273568		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	20852631		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27601076	Associate	★☆☆☆☆ Found in Text Mining only