ABHD10
gene geneOn this page
Also known as FLJ11342
Summary
ABHD10 (abhydrolase domain containing 10, depalmitoylase, HGNC:25656) is a protein-coding gene on chromosome 3q13.2, encoding Palmitoyl-protein thioesterase ABHD10, mitochondrial (Q9NUJ1). Acts as an acyl-protein thioesterase that hydrolyzes fatty acids from acylated residues in proteins.
This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55347 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 78 total — 8 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_018394
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25656 |
| Approved symbol | ABHD10 |
| Name | abhydrolase domain containing 10, depalmitoylase |
| Location | 3q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11342 |
| Ensembl gene | ENSG00000144827 |
| Ensembl biotype | protein_coding |
| OMIM | 618756 |
| Entrez | 55347 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000273359, ENST00000491580, ENST00000493784, ENST00000494817, ENST00000497293, ENST00000884616, ENST00000916260, ENST00000916261, ENST00000916262
RefSeq mRNA: 2 — MANE Select: NM_018394
NM_001272069, NM_018394
CCDS: CCDS2963, CCDS63718
Canonical transcript exons
ENST00000273359 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000967357 | 111981784 | 111981967 |
| ENSE00001200297 | 111991377 | 111993368 |
| ENSE00001825875 | 111979026 | 111979203 |
| ENSE00003463040 | 111986264 | 111986375 |
| ENSE00003572494 | 111986914 | 111987051 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 95.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.3323 / max 258.3651, expressed in 1799 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37903 | 19.0331 | 1793 |
| 37902 | 1.2992 | 904 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nephron tubule | UBERON:0001231 | 95.32 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.20 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.29 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.26 | gold quality |
| renal glomerulus | UBERON:0000074 | 92.98 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.83 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 92.82 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.77 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.05 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.74 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.60 | gold quality |
| periodontal ligament | UBERON:0008266 | 91.52 | gold quality |
| renal medulla | UBERON:0000362 | 91.51 | gold quality |
| parotid gland | UBERON:0001831 | 91.48 | gold quality |
| cortex of kidney | UBERON:0001225 | 91.40 | gold quality |
| cortical plate | UBERON:0005343 | 91.39 | gold quality |
| pituitary gland | UBERON:0000007 | 91.27 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.23 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.21 | gold quality |
| kidney | UBERON:0002113 | 91.14 | gold quality |
| ventricular zone | UBERON:0003053 | 91.11 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 91.08 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.74 | gold quality |
| caput epididymis | UBERON:0004358 | 90.66 | gold quality |
| corpus callosum | UBERON:0002336 | 90.61 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.53 | gold quality |
| cranial nerve II | UBERON:0000941 | 90.44 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting ABHD10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
Literature-anchored findings (GeneRIF, showing 3)
- mitochondrial localization of rat Abhd10 (PMID:21078990)
- ABHD10 is responsible for deglucuronidation of mycophenolic acid acyl-glucuronide in liver. (PMID:22294686)
- Which potently inhibited ABHD10 activity. (PMID:25217485)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tagln3b | ENSDARG00000058394 |
| danio_rerio | abhd10a | ENSDARG00000076435 |
| mus_musculus | Abhd10 | ENSMUSG00000033157 |
| rattus_norvegicus | Abhd10 | ENSRNOG00000054334 |
Protein
Protein identifiers
Palmitoyl-protein thioesterase ABHD10, mitochondrial — Q9NUJ1 (reviewed: Q9NUJ1)
Alternative names: Acyl-protein thioesterase ABHD10, Alpha/beta hydrolase domain-containing protein 10, Mycophenolic acid acyl-glucuronide esterase, mitochondrial
All UniProt accessions (3): Q9NUJ1, F8WBJ5, F8WBQ6
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an acyl-protein thioesterase that hydrolyzes fatty acids from acylated residues in proteins. Regulates the mitochondrial S-depalmitoylation of the nucleophilic active site residue of peroxiredoxin-5/PRDX5, a key antioxidant protein, therefore modulating mitochondrial antioxidant ability. Also catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, an active metabolite of the immunosuppressant drug mycophenolate.
Subcellular location. Mitochondrion.
Activity regulation. Inhibited by palmostatin-B.
Similarity. Belongs to the AB hydrolase superfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUJ1-1 | 1 | yes |
| Q9NUJ1-2 | 2 | |
| Q9NUJ1-3 | 3 |
RefSeq proteins (2): NP_001258998, NP_060864* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000073 | AB_hydrolase_1 | Domain |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
| IPR052382 | ABHD10_acyl-thioesterase | Family |
Pfam: PF00561
Enzyme classification (BRENDA):
- EC 3.1.1.93 — mycophenolic acid acyl-glucuronide esterase (BRENDA: 1 organisms, 1 substrates, 15 inhibitors, 1 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| MYCOPHENOLIC ACID O-ACYL-GLUCURONIDE | 0.1007 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- S-hexadecanoyl-L-cysteinyl-[protein] + H2O = L-cysteinyl-[protein] + hexadecanoate + H(+) (RHEA:19233)
- mycophenolic acid O-acyl-beta-D-glucuronide + H2O = mycophenolate + D-glucuronate + H(+) (RHEA:34179)
UniProt features (11 total): active site 3, splice variant 3, transit peptide 1, chain 1, mutagenesis site 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUJ1-F1 | 86.70 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 152 (charge relay system); 249 (charge relay system); 279 (charge relay system)
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 152 | loss of palmitoyl-(protein) hydrolase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-156588 | Glucuronidation |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-211859 | Biological oxidations |
MSigDB gene sets: 163 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, FISCHER_G1_S_CELL_CYCLE, GOBP_MACROMOLECULE_DEACYLATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_CATABOLIC_PROCESS, MULLIGHAN_MLL_SIGNATURE_2_DN, GOCC_MITOCHONDRIAL_MATRIX, MARSON_BOUND_BY_E2F4_UNSTIMULATED, REACTOME_GLUCURONIDATION
GO Biological Process (3): protein depalmitoylation (GO:0002084), xenobiotic metabolic process (GO:0006805), glucuronate metabolic process (GO:0019585)
GO Molecular Function (5): hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), palmitoyl-(protein) hydrolase activity (GO:0008474), mycophenolic acid acyl-glucuronide esterase activity (GO:0102390), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Biological oxidations | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| protein deacylation | 1 |
| lipoprotein catabolic process | 1 |
| macromolecule depalmitoylation | 1 |
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| monocarboxylic acid metabolic process | 1 |
| hydrolase activity, acting on glycosyl bonds | 1 |
| thiolester hydrolase activity | 1 |
| palmitoyl hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| carboxylic ester hydrolase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1610 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABHD10 | ABHD17A | Q96GS6 | 682 |
| ABHD10 | ABHD11 | Q8NFV4 | 605 |
| ABHD10 | ABHD13 | Q7L211 | 601 |
| ABHD10 | ABHD17B | Q5VST6 | 589 |
| ABHD10 | ABHD3 | Q8WU67 | 556 |
| ABHD10 | ABHD6 | Q9BV23 | 553 |
| ABHD10 | ABHD16B | Q9H3Z7 | 553 |
| ABHD10 | ABHD12B | Q7Z5M8 | 548 |
| ABHD10 | ABHD16A | O95870 | 541 |
| ABHD10 | ABHD1 | Q96SE0 | 530 |
| ABHD10 | ABHD14B | Q96IU4 | 527 |
| ABHD10 | LYPLA1 | O75608 | 519 |
| ABHD10 | ABHD4 | Q8TB40 | 518 |
| ABHD10 | ABHD2 | P08910 | 500 |
| ABHD10 | ABHD14A | Q9BUJ0 | 500 |
IntAct
59 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ASH2L | KMT2D | psi-mi:“MI:0914”(association) | 0.890 |
| ARL3 | UNC119B | psi-mi:“MI:0914”(association) | 0.730 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| INPP5K | GART | psi-mi:“MI:0914”(association) | 0.640 |
| KCMF1 | IDH2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABHD10 | UBR5 | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPBAP1 | ABHD10 | psi-mi:“MI:0915”(physical association) | 0.500 |
| ACSF3 | ABHD10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Ubr5 | SFI1 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXK1 | PHKG2 | psi-mi:“MI:0914”(association) | 0.350 |
| E7 | COPE | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| ARL3 | psi-mi:“MI:0914”(association) | 0.350 | |
| IFIH1 | DDHD2 | psi-mi:“MI:0914”(association) | 0.350 |
| IFIH1 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| DLD | NFKBIE | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| INPP5K | PES1 | psi-mi:“MI:0914”(association) | 0.350 |
| FMC1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| FMC1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| OPA3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ7 | ALDH1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM136A | ALDH1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| LACTB | ALDH1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| OPA3 | CS | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCI | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (121): ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), ABHD10 (Proximity Label-MS), ABHD10 (Proximity Label-MS)
ESM2 similar proteins: A0JPF9, A2AV36, A2VD33, A3KP77, A4IGH2, A4IHY0, A6QQV6, A8E7D2, B0S8I0, E1BCH6, E1BVR9, E9PYK3, P0C5J1, P57075, P83006, Q28CZ7, Q32PY6, Q3U3W5, Q3UZW7, Q3V3E1, Q4V7D6, Q502I6, Q58DM7, Q5E9H9, Q5I0K5, Q5M7E3, Q5R4D2, Q5REX5, Q5RG49, Q5RJG7, Q5S6T3, Q5U4E8, Q5ZIB9, Q66KI9, Q6PCI6, Q6PE15, Q7T0X7, Q8BGG7, Q8BTK5, Q8L5Z4
Diamond homologs: Q5E9H9, Q5I0K5, Q5REX5, Q6PE15, Q99390, Q9NUJ1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1703653 | GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696) | Pathogenic |
| 1807773 | GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1 | Pathogenic |
| 2498335 | GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 | Pathogenic |
| 393800 | GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 | Pathogenic |
| 562805 | GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 | Pathogenic |
| 57804 | GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 | Pathogenic |
| 57980 | GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 | Pathogenic |
| 814468 | GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1 | Pathogenic |
SpliceAI
757 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:111986388:T:G | donor_gain | 1.0000 |
| 3:111986388:T:TG | donor_gain | 1.0000 |
| 3:111986906:A:AG | acceptor_gain | 1.0000 |
| 3:111986907:T:G | acceptor_gain | 1.0000 |
| 3:111986909:TTTA:T | acceptor_loss | 1.0000 |
| 3:111986912:A:AG | acceptor_gain | 1.0000 |
| 3:111986913:G:GG | acceptor_gain | 1.0000 |
| 3:111986913:GA:G | acceptor_gain | 1.0000 |
| 3:111986913:GAT:G | acceptor_gain | 1.0000 |
| 3:111986913:GATT:G | acceptor_gain | 1.0000 |
| 3:111986913:GATTC:G | acceptor_gain | 1.0000 |
| 3:111987047:TTGAG:T | donor_gain | 1.0000 |
| 3:111987048:TGAG:T | donor_gain | 1.0000 |
| 3:111987049:GAG:G | donor_gain | 1.0000 |
| 3:111987049:GAGG:G | donor_gain | 1.0000 |
| 3:111987049:GAGGT:G | donor_loss | 1.0000 |
| 3:111987050:AG:A | donor_gain | 1.0000 |
| 3:111987051:GG:G | donor_gain | 1.0000 |
| 3:111987051:GGTA:G | donor_loss | 1.0000 |
| 3:111987052:G:GG | donor_gain | 1.0000 |
| 3:111987052:GTAA:G | donor_loss | 1.0000 |
| 3:111990752:G:GG | donor_gain | 1.0000 |
| 3:111991372:A:AG | acceptor_gain | 1.0000 |
| 3:111991373:A:G | acceptor_gain | 1.0000 |
| 3:111991375:A:AG | acceptor_gain | 1.0000 |
| 3:111991375:AGC:A | acceptor_loss | 1.0000 |
| 3:111991376:G:GA | acceptor_gain | 1.0000 |
| 3:111991376:GC:G | acceptor_gain | 1.0000 |
| 3:111991376:GCT:G | acceptor_gain | 1.0000 |
| 3:111991376:GCTA:G | acceptor_gain | 1.0000 |
AlphaMissense
1989 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:111986941:T:A | W156R | 0.988 |
| 3:111986941:T:C | W156R | 0.988 |
| 3:111986969:G:C | R165P | 0.988 |
| 3:111986921:T:A | V149D | 0.987 |
| 3:111986959:G:C | A162P | 0.987 |
| 3:111991545:G:C | D249H | 0.986 |
| 3:111986936:G:A | G154E | 0.985 |
| 3:111991528:T:C | L243S | 0.985 |
| 3:111986956:G:C | A161P | 0.984 |
| 3:111986986:G:C | A171P | 0.984 |
| 3:111986924:G:A | G150E | 0.983 |
| 3:111986936:G:T | G154V | 0.983 |
| 3:111986957:C:A | A161D | 0.983 |
| 3:111986990:T:C | L172P | 0.983 |
| 3:111991473:G:C | A225P | 0.983 |
| 3:111986915:T:C | I147T | 0.982 |
| 3:111986915:T:G | I147S | 0.982 |
| 3:111986929:A:C | S152R | 0.982 |
| 3:111986931:C:A | S152R | 0.982 |
| 3:111986931:C:G | S152R | 0.982 |
| 3:111986960:C:A | A162E | 0.982 |
| 3:111986996:G:A | G174D | 0.981 |
| 3:111986935:G:A | G154R | 0.980 |
| 3:111986935:G:C | G154R | 0.980 |
| 3:111986987:C:A | A171D | 0.980 |
| 3:111986995:G:C | G174R | 0.980 |
| 3:111981941:C:G | C100W | 0.978 |
| 3:111986915:T:A | I147N | 0.977 |
| 3:111991537:G:A | G246D | 0.975 |
| 3:111981936:T:C | F99L | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000133176 (3:111977775 A>T), RS1000244554 (3:111978749 T>C), RS1000430212 (3:111989770 A>G,T), RS1000515210 (3:111988786 C>T), RS1000761831 (3:111988319 T>TA), RS1000899348 (3:111989053 C>T), RS1000953972 (3:111982560 C>A,G), RS1001067004 (3:111983019 A>G), RS1001645478 (3:111977590 C>T), RS1001873408 (3:111980772 A>G), RS1002414661 (3:111987594 C>T), RS1002416345 (3:111982194 A>C), RS1002535308 (3:111991963 T>A), RS1002695164 (3:111988425 G>T), RS1002734576 (3:111987350 T>G)
Disease associations
OMIM: gene MIM:618756 | disease phenotypes: MIM:615433
GenCC curated gene-disease
Mondo (1): chromosome 3q13.31 deletion syndrome (MONDO:0014185)
Orphanet (1): 3q13 microdeletion syndrome (Orphanet:1621)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_643 | Metabolite levels | 6.000000e-06 |
| GCST011773_26 | Type 1 diabetes (age at diagnosis) | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010504 | inositol measurement |
| EFO:0004918 | age at diagnosis |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536808 | Chromosome 3, monosomy 3q13 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066317 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.52 | IC50 | 30 | nM | CHEMBL2136724 |
| 7.00 | IC50 | 100 | nM | CHEMBL5562401 |
| 6.68 | IC50 | 210 | nM | CHEMBL1316155 |
PubChem BioAssay actives
3 with measured affinity, of 3 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| dipropan-2-yl (3R)-3-ethyl-3-(4-methylphenyl)-4-oxodiazetidine-1,2-dicarboxylate | 2084141: Inhibition of ABHD10 (unknown origin) | ic50 | 0.0300 | uM |
| (1S,9R,10S,11R,14R)-1-hydroxy-3,5-dimethoxy-9-(4-methoxyphenyl)-10-phenyl-8,13-dioxatetracyclo[7.5.0.02,7.011,14]tetradeca-2(7),3,5-trien-12-one | 2084141: Inhibition of ABHD10 (unknown origin) | ic50 | 0.1000 | uM |
| dimethyl (3R)-3-ethyl-3-(3-methylphenyl)-4-oxodiazetidine-1,2-dicarboxylate | 2084141: Inhibition of ABHD10 (unknown origin) | ic50 | 0.2100 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | increases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| ochratoxin A | affects cotreatment, decreases expression | 1 |
| bleomycetin | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Citrinin | affects cotreatment, decreases expression | 1 |
| Dinitrochlorobenzene | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5524614 | Binding | Inhibition of ABHD10 (unknown origin) | Modulators for palmitoylation of proteins and small molecules. — Eur J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chromosome 3q13.31 deletion syndrome