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:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA	21873635
GO:0042171	Function	Lysophosphatidic acid acyltransferase activity	IBA	21873635
GO:0052689	Function	Carboxylic ester hydrolase activity	IBA	21873635
GO:0055088	Process	Lipid homeostasis	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	18570454

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

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	20852631

Unknown
Disease term	Disease name	Evidence	References	Source
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Tremor	Tremor			GWAS
Carcinoma	Carcinoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Ovarian Epithelial	Associate	30559148
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27601076
Ovarian Neoplasms	Associate	27601076