ABHD11

Summary

ABHD11 (abhydrolase domain containing 11, HGNC:16407) is a protein-coding gene on chromosome 7q11.23, encoding sn-1-specific diacylglycerol lipase ABHD11 (Q8NFV4). Catalyzes the hydrolysis of diacylglycerol in vitro and may function as a key regulator in lipid metabolism, namely by regulating the intracellular levels of diacylglycerol. 1,2-diacyl-sn-glycerols are the preferred substrate over 1,3-diacyl-sn-glycerols. It is a selective cancer dependency (DepMap: 25.7% of cell lines).

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

Source: NCBI Gene 83451 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 194 total — 111 pathogenic, 5 likely-pathogenic
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 25.7% of screened cell lines
• MANE Select transcript: NM_148912

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16407
Approved symbol	ABHD11
Name	abhydrolase domain containing 11
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	PP1226
Ensembl gene	ENSG00000106077
Ensembl biotype	protein_coding
OMIM	621050
Entrez	83451

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 13 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000222800, ENST00000357419, ENST00000395147, ENST00000412965, ENST00000437775, ENST00000437891, ENST00000458339, ENST00000462381, ENST00000468331, ENST00000468998, ENST00000474130, ENST00000480445, ENST00000486114, ENST00000497897, ENST00000906765, ENST00000906766, ENST00000906767, ENST00000906768, ENST00000906769, ENST00000906770, ENST00000906771, ENST00000933786, ENST00000933787

RefSeq mRNA: 4 — MANE Select: NM_148912 NM_001145364, NM_001301058, NM_148912, NM_148913

CCDS: CCDS47607, CCDS47608, CCDS5558, CCDS75615

Canonical transcript exons

ENST00000222800 — 6 exons

Exon	Start	End
ENSE00001834091	73738646	73738802
ENSE00003462443	73736929	73737110
ENSE00003567273	73737562	73737735
ENSE00003612759	73736094	73736691
ENSE00003616889	73737221	73737391
ENSE00003622192	73738328	73738463

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 97.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5930 / max 457.2273, expressed in 1783 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84326	18.0884	1776
84325	0.5687	235
84327	0.5616	310
84328	0.3253	146
84324	0.0490	22

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	97.55	gold quality
metanephros cortex	UBERON:0010533	96.82	gold quality
right lobe of thyroid gland	UBERON:0001119	96.00	gold quality
left lobe of thyroid gland	UBERON:0001120	95.94	gold quality
right uterine tube	UBERON:0001302	95.56	gold quality
thyroid gland	UBERON:0002046	95.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.67	gold quality
body of pancreas	UBERON:0001150	94.26	gold quality
transverse colon	UBERON:0001157	93.92	gold quality
rectum	UBERON:0001052	93.87	gold quality
pancreatic ductal cell	CL:0002079	92.47	gold quality
minor salivary gland	UBERON:0001830	92.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.12	gold quality
epithelium of bronchus	UBERON:0002031	91.91	gold quality
bronchus	UBERON:0002185	91.74	gold quality
bronchial epithelial cell	CL:0002328	91.52	gold quality
adenohypophysis	UBERON:0002196	91.45	gold quality
small intestine	UBERON:0002108	91.18	gold quality
mouth mucosa	UBERON:0003729	90.84	gold quality
duodenum	UBERON:0002114	90.57	gold quality
pituitary gland	UBERON:0000007	90.56	gold quality
prostate gland	UBERON:0002367	90.40	gold quality
colonic mucosa	UBERON:0000317	90.26	gold quality
nasal cavity epithelium	UBERON:0005384	90.01	gold quality
apex of heart	UBERON:0002098	89.89	gold quality
saliva-secreting gland	UBERON:0001044	89.77	gold quality
granulocyte	CL:0000094	89.72	gold quality
nasal cavity mucosa	UBERON:0001826	89.60	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.59	gold quality
gall bladder	UBERON:0002110	89.36	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting ABHD11, 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-6778-3P	99.96	67.29	2693
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-367-5P	98.84	67.18	902
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-5691	98.23	67.02	1335
HSA-MIR-6805-3P	98.23	67.02	1334
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-214-5P	97.34	66.50	617
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-3135A	96.41	65.30	494

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 25.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• Abhydrolase domain-containing protein 11 and Esterase D predict the development of distant metastases and the presence of aggressive lung adenocarcinomas. (PMID:21596165)
• ABHD11-AS1 is expressed in gastric cancer tissues and may have a role as a biological marker (PMID:26280398)
• The results demonstrate that human ABHD11 and its yeast homolog YGR031W have a pivotal role in the lipid metabolism. (PMID:28465236)
• that ABHD11-AS1 promotes CRC progression through the miR-1254-WNT11 pathway (PMID:30537177)
• ABHD11, a new diacylglycerol lipase involved in weight gain regulation. (PMID:32579589)
• ABHD11 maintains 2-oxoglutarate metabolism by preserving functional lipoylation of the 2-oxoglutarate dehydrogenase complex. (PMID:32792488)
• Long non-coding RNA ABHD11-AS1 promotes colorectal cancer progression and invasion through targeting the integrin subunit alpha 5/focal adhesion kinase/phosphoinositide 3 kinase/Akt signaling pathway. (PMID:34375304)
• LncRNA ABHD11-AS1 activates EGFR signaling to promote cervical cancer progression by preventing FUS-mediated degradation of ABHD11 mRNA. (PMID:38146687)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	abhd11	ENSDARG00000069501
mus_musculus	Abhd11	ENSMUSG00000040532
rattus_norvegicus	Abhd11	ENSRNOG00000018910
drosophila_melanogaster	CG2059	FBGN0029942
drosophila_melanogaster	CG14717	FBGN0265271
caenorhabditis_elegans	abhd-11.2	WBGENE00011029

Paralogs (12): ABHD5 (ENSG00000011198), ABHD4 (ENSG00000100439), EPHX3 (ENSG00000105131), MEST (ENSG00000106484), ABHD14B (ENSG00000114779), EPHX2 (ENSG00000120915), ABHD8 (ENSG00000127220), BPHL (ENSG00000137274), ABHD6 (ENSG00000163686), EPHX4 (ENSG00000172031), SERHL2 (ENSG00000183569), ABHD14A (ENSG00000248487)

Protein

Protein identifiers

sn-1-specific diacylglycerol lipase ABHD11 — Q8NFV4 (reviewed: Q8NFV4)

Alternative names: Alpha/beta hydrolase domain-containing protein 11, Williams-Beuren syndrome chromosomal region 21 protein

All UniProt accessions (5): Q8NFV4, C9J7Q4, H0YC52, H7BZ58, H7C396

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of diacylglycerol in vitro and may function as a key regulator in lipid metabolism, namely by regulating the intracellular levels of diacylglycerol. 1,2-diacyl-sn-glycerols are the preferred substrate over 1,3-diacyl-sn-glycerols. The enzyme hydrolyzes stearate in preference to palmitate from the sn-1 position of 1,2-diacyl-sn-glycerols. Maintains the functional lipoylation of the 2-oxoglutarate dehydrogenase complex (OGDHc) through its interaction with the OGDHc by preventing the formation of lipoyl adducts. In addition, is also required for the expansion and differentiation of embryonic stem cells (ESCs).

Subunit / interactions. Interacts with OGDH and DLST; this interaction maintains the functional lipoylation of the 2-oxoglutarate dehydrogenase complex.

Subcellular location. Mitochondrion. Mitochondrion matrix.

Tissue specificity. Ubiquitously expressed. Highly expressed in small intestine, prostate and thyroid, while aorta and colon tissues exhibit weak expression levels.

Post-translational modifications. Phosphorylated.

Disease relevance. ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the AB hydrolase superfamily.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8NFV4-1	1, A	yes
Q8NFV4-2	2, B
Q8NFV4-3	3, C
Q8NFV4-4	4, D
Q8NFV4-5	5, E
Q8NFV4-6	6

RefSeq proteins (4): NP_001138836, NP_001287987, NP_683710, NP_683711 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF00561

Catalyzed reactions (Rhea), 6 shown:

• a 1,2-diacyl-sn-glycerol + H2O = a 2-acylglycerol + a fatty acid + H(+) (RHEA:33275)
• a 1,3-diacyl-sn-glycerol + H2O = a 1-acyl-sn-glycerol + a fatty acid + H(+) (RHEA:38503)
• 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + octadecanoate + H(+) (RHEA:38507)
• 1,2-didecanoylglycerol + H2O = decanoylglycerol + decanoate + H(+) (RHEA:48596)
• 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol + H2O = 2-(9Z-octadecenoyl)-glycerol + octadecanoate + H(+) (RHEA:77103)
• 1-octadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol + H2O = 2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-glycerol + octadecanoate + H(+) (RHEA:77107)

UniProt features (18 total): splice variant 8, active site 3, mutagenesis site 2, transit peptide 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFV4-F1	88.41	0.83

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): 132 (charge relay system); 228 (charge relay system); 287 (charge relay system)

Post-translational modifications (1): 78

Mutagenesis-validated functional residues (2):

Position	Phenotype
132	loss of p-nitrophenyl ester hydrolysis. does not affect mitochondrion location. loss of dlst lipoylation.
287	loss of dlst lipoylation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_LIPID_METABOLIC_PROCESS, ATF4_Q2, chr7q11, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, CUI_TCF21_TARGETS_2_UP, HUANG_DASATINIB_RESISTANCE_DN, GOCC_OXIDOREDUCTASE_COMPLEX, NUYTTEN_EZH2_TARGETS_DN, GOCC_TRANSFERASE_COMPLEX, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOCC_MITOCHONDRIAL_MATRIX, GOCC_TRICARBOXYLIC_ACID_CYCLE_HETEROMERIC_ENZYME_COMPLEX, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY

GO Biological Process (1): lipid metabolic process (GO:0006629)

GO Molecular Function (4): lipase activity (GO:0016298), carboxylic ester hydrolase activity (GO:0052689), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), oxoglutarate dehydrogenase complex (GO:0045252)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hydrolase activity, acting on ester bonds	2
primary metabolic process	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
tricarboxylic acid cycle heteromeric enzyme complex	1
alpha-ketoacid dehydrogenase complex	1
transferase complex	1

Protein interactions and networks

STRING

1388 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD11	PAFAH2	Q99487	683
ABHD11	ABHD6	Q9BV23	682
ABHD11	ABHD10	Q9NUJ1	605
ABHD11	ABHD1	Q96SE0	588
ABHD11	ABHD18	Q0P651	581
ABHD11	ABHD3	Q8WU67	562
ABHD11	IAH1	Q2TAA2	547
ABHD11	ROGDI	Q9GZN7	534
ABHD11	ABHD8	Q96I13	532
ABHD11	ABHD16A	O95870	531
ABHD11	LYPLA1	O75608	530
ABHD11	LYPLA2	O95372	530
ABHD11	ABHD16B	Q9H3Z7	530
ABHD11	ABHD4	Q8TB40	529
ABHD11	ABHD13	Q7L211	527

IntAct

18 interactions, top by confidence:

A	B	Type	Score
UQCRFS1	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ABHD11	NME4	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
OSTM1	ILVBL	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
UQCRFS1	VWA8	psi-mi:“MI:0914”(association)	0.350
YARS2	VWA8	psi-mi:“MI:0914”(association)	0.350
FAHD1	VWA8	psi-mi:“MI:0914”(association)	0.350
STING1	SMCHD1	psi-mi:“MI:0914”(association)	0.350
NIPSNAP3A	NUDT19	psi-mi:“MI:0914”(association)	0.350
COL10A1	PLOD2	psi-mi:“MI:0914”(association)	0.350

BioGRID (68): ABHD11 (Affinity Capture-MS), PGM1 (Co-fractionation), NME4 (Affinity Capture-MS), ABHD11 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), DHRS4 (Affinity Capture-MS), HOGA1 (Affinity Capture-MS), BOLA1 (Affinity Capture-MS), ACAD8 (Affinity Capture-MS), ECH1 (Affinity Capture-MS), CHCHD4 (Affinity Capture-MS), C1QBP (Affinity Capture-MS), ABHD11 (Affinity Capture-MS), ABHD11 (Co-fractionation), ABHD11 (Co-fractionation)

ESM2 similar proteins: A1A4L8, A2BDX3, A4RPM5, A5GFZ6, A6NK58, B4FAT0, B4NXF7, B6TNK6, O19179, O43323, O95396, O95571, P19971, P55203, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q14BV6, Q17CA7, Q1WNP0, Q3KQV9, Q3TW96, Q3UQ84, Q561R2, Q58E95, Q5PQQ1, Q5ZKI2, Q61488, Q66JK4, Q6PAT0, Q7PY41, Q86U10, Q8AWD2, Q8NFV4, Q8VBZ0, Q8VDG5, Q923K4, Q96EY9

Diamond homologs: A0A061AYY2, A0A061B0Q2, A0A1E3P8S6, A0A1E3P8S8, A0A1E4S2N7, A0A1E4S2P1, A0A1E5RIW9, A0A1E5RUL9, G8JVR4, K0KPV8, K0KSN3, O06734, O07015, P23974, Q6CLY8, Q8NFV4, Q988D4, W0T4A7, A1A9R4, A1JMX1, A4VQH7, A4W922, A6T799, A7MFY0, A7ZKB4, A7ZYW4, A8GCT3, A8IAD8, A9W3H8, B0SW62, B1IV88, B1LIZ6, B1M5I5, B1X9D0, B1ZB18, B5XXN3, B5YU51, B6I985, B7KWT4, B7LFB9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

194 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	111
Likely pathogenic	5
Uncertain significance	63
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	Pathogenic
146803	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3	Pathogenic
146807	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1	Pathogenic
146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	Pathogenic
147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	Pathogenic
147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	Pathogenic
147629	GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	Pathogenic
148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	Pathogenic
149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	Pathogenic
149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	Pathogenic
149308	GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	Pathogenic
149309	GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	Pathogenic
149310	GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	Pathogenic
150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	Pathogenic
150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	Pathogenic
151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	Pathogenic
151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	Pathogenic
152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	Pathogenic
153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	Pathogenic
153973	GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	Pathogenic
153978	GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	Pathogenic
154080	GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	Pathogenic
154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	Pathogenic
154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	Pathogenic
154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	Pathogenic
154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	Pathogenic
155565	GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	Pathogenic
160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	Pathogenic
1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	Pathogenic
1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	Pathogenic

SpliceAI

826 predictions. Top by Δscore:

Variant	Effect	Δscore
7:73737733:CAC:C	acceptor_gain	1.0000
7:73737736:C:CC	acceptor_gain	1.0000
7:73737736:CT:C	acceptor_loss	1.0000
7:73738326:A:AC	donor_gain	1.0000
7:73738326:AC:A	donor_gain	1.0000
7:73738327:C:CC	donor_gain	1.0000
7:73738327:CC:C	donor_gain	1.0000
7:73738327:CCCTA:C	donor_gain	1.0000
7:73738331:ACGG:A	donor_gain	1.0000
7:73738332:CGGC:C	donor_gain	1.0000
7:73738641:CTGA:C	donor_loss	1.0000
7:73738642:TGA:T	donor_loss	1.0000
7:73738643:GACCT:G	donor_loss	1.0000
7:73738645:CCTCG:C	donor_loss	1.0000
7:73736758:G:C	acceptor_gain	0.9900
7:73736927:A:AC	donor_gain	0.9900
7:73736928:C:CC	donor_gain	0.9900
7:73736928:CTG:C	donor_gain	0.9900
7:73737560:AC:A	donor_gain	0.9900
7:73737561:CC:C	donor_gain	0.9900
7:73737561:CCCT:C	donor_gain	0.9900
7:73737592:T:A	donor_gain	0.9900
7:73737731:AGCAC:A	acceptor_gain	0.9900
7:73737732:GCAC:G	acceptor_gain	0.9900
7:73737733:CACC:C	acceptor_gain	0.9900
7:73737734:AC:A	acceptor_gain	0.9900
7:73737735:CC:C	acceptor_gain	0.9900
7:73737743:G:C	acceptor_gain	0.9900
7:73738332:CGG:C	donor_gain	0.9900
7:73738334:G:GA	donor_gain	0.9900

AlphaMissense

2067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:73737712:G:C	N104K	0.979
7:73737712:G:T	N104K	0.979
7:73737700:G:C	S108R	0.978
7:73737700:G:T	S108R	0.978
7:73737702:T:G	S108R	0.978
7:73737050:A:G	W232R	0.970
7:73737050:A:T	W232R	0.970
7:73736568:G:C	F313L	0.966
7:73736568:G:T	F313L	0.966
7:73736570:A:G	F313L	0.966
7:73737353:G:C	S167R	0.962
7:73737353:G:T	S167R	0.962
7:73737355:T:G	S167R	0.962
7:73737601:G:C	S141R	0.961
7:73737601:G:T	S141R	0.961
7:73737603:T:G	S141R	0.961
7:73736658:G:C	F283L	0.958
7:73736658:G:T	F283L	0.958
7:73736660:A:G	F283L	0.958
7:73737572:G:T	A151E	0.947
7:73736997:G:C	F249L	0.946
7:73736997:G:T	F249L	0.946
7:73736999:A:G	F249L	0.946
7:73737584:G:T	A147D	0.945
7:73737602:C:A	S141I	0.945
7:73737717:G:T	R103S	0.941
7:73738407:A:T	V70D	0.940
7:73737585:C:G	A147P	0.939
7:73736958:A:C	F262L	0.938
7:73736958:A:T	F262L	0.938

dbSNP variants (sampled 300 via entrez): RS1000744587 (7:73737854 G>A), RS1000817951 (7:73736609 C>T), RS1002860930 (7:73740308 C>A), RS1002916512 (7:73740167 G>A), RS1003669079 (7:73736362 C>T), RS1004982371 (7:73740138 G>A), RS1005219563 (7:73735736 C>A,T), RS1005332474 (7:73735965 G>A,C,T), RS1005446907 (7:73736293 G>A), RS1006889276 (7:73736837 C>A,G), RS1007002367 (7:73737084 G>A), RS1007388458 (7:73738177 G>A), RS1009006351 (7:73739375 A>G), RS1009058537 (7:73739081 G>A), RS1009502631 (7:73738071 C>T)

Disease associations

OMIM: gene MIM:621050 | disease phenotypes: MIM:194050, MIM:613729, MIM:193250

GenCC curated gene-disease

Mondo (6): Williams syndrome (MONDO:0008678), distal 7q11.23 microdeletion syndrome (MONDO:0013393), breast ductal adenocarcinoma (MONDO:0005590), autism spectrum disorder (MONDO:0005258), volvulus of midgut (MONDO:0008666), neurodevelopmental disorder (MONDO:0700092)

Orphanet (5): Williams syndrome (Orphanet:904), Distal 7q11.23 microdeletion syndrome (Orphanet:254351), OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome (Orphanet:2454), Familial intestinal malrotation (Orphanet:508410), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST007203_4	Total cholesterol levels	2.000000e-06
GCST010725_13	Malaria	8.000000e-06
GCST010725_74	Malaria	6.000000e-06
GCST010725_91	Malaria	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D065886	Neurodevelopmental Disorders	F03.625
D018980	Williams Syndrome	C10.597.606.360.970; C14.280.484.048.750.535.960; C16.131.260.970; C16.320.180.970
C562456	Volvulus Of Midgut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2189134 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.17	IC50	0.68	nM	CHEMBL1891894
7.82	IC50	15	nM	CHEMBL1891894

PubChem BioAssay actives

3 with measured affinity, of 4 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
[4-[hydroxy(diphenyl)methyl]triazol-2-yl]-piperidin-1-ylmethanone	1079557: Inhibition of ABHD11 (unknown origin)	ic50	0.0300	uM
(2-ethylpiperidin-1-yl)-[4-[hydroxy(diphenyl)methyl]triazol-2-yl]methanone	1079557: Inhibition of ABHD11 (unknown origin)	ic50	0.0300	uM
(4-tert-butylpiperidin-1-yl)-[4-[hydroxy(diphenyl)methyl]triazol-2-yl]methanone	1079557: Inhibition of ABHD11 (unknown origin)	ic50	0.0300	uM

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
bisphenol A	decreases expression, increases expression, affects cotreatment	2
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
sotorasib	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
zinc chromate	decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
tanespimycin	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
VER 155008	affects cotreatment, decreases expression	1
NSC 689534	affects binding, decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	affects response to substance	1
Copper	affects binding, decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Demecolcine	decreases expression	1

ChEMBL screening assays

4 unique, capped per target: 2 binding, 2 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2209099	Binding	Inhibition of ABHD11 binding to FP-biotin in [12C][14N]-lysine, arginine and [13C6][15N2]-lysine, arginine labeled HEK293T cells at 20 uM after 1 hr by isotopic activity-based protein profiling-MudPIT assay	Discovery and optimization of sulfonyl acrylonitriles as selective, covalent inhibitors of protein phosphatase methylesterase-1. — J Med Chem
CHEMBL5723266	Functional	Affinity Biochemical interaction: (fluorescence-based biochemical gel-based Activity-Based Protein Profiling (ABPP)) EUB0002643a ABHD11	Affinity Biochemical Literature for EUbOPEN Chemogenomic Library

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00768820	PHASE4	RECRUITING	The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
NCT04807517	PHASE4	COMPLETED	Buspirone Treatment of Anxiety in Williams Syndrome
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder