Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83451
Gene name	Abhydrolase domain containing 11
Gene symbol	ABHD11
Synonyms (NCBI Gene)	PP1226WBSCR21
Chromosome	7
Chromosome location	7q11.23
Summary	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. [provided by RefSeq, Mar 2016]

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Show/Hide all (225)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001394	hsa-miR-1-3p	pSILAC	18668040
MIRT001394	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT441307	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441307	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT759431	hsa-miR-122	CLIP-seq
MIRT759432	hsa-miR-1297	CLIP-seq
MIRT759433	hsa-miR-1307	CLIP-seq
MIRT759434	hsa-miR-140-5p	CLIP-seq
MIRT759435	hsa-miR-142-3p	CLIP-seq
MIRT759436	hsa-miR-197	CLIP-seq
MIRT759437	hsa-miR-26a	CLIP-seq
MIRT759438	hsa-miR-26b	CLIP-seq
MIRT759439	hsa-miR-3135	CLIP-seq
MIRT759440	hsa-miR-3135b	CLIP-seq
MIRT759441	hsa-miR-3187-3p	CLIP-seq
MIRT759442	hsa-miR-3545-5p	CLIP-seq
MIRT759443	hsa-miR-3650	CLIP-seq
MIRT759444	hsa-miR-3652	CLIP-seq
MIRT759445	hsa-miR-3663-5p	CLIP-seq
MIRT759446	hsa-miR-3929	CLIP-seq
MIRT759447	hsa-miR-4280	CLIP-seq
MIRT759448	hsa-miR-4317	CLIP-seq
MIRT759449	hsa-miR-4419b	CLIP-seq
MIRT759450	hsa-miR-4430	CLIP-seq
MIRT759451	hsa-miR-4435	CLIP-seq
MIRT759452	hsa-miR-4460	CLIP-seq
MIRT759453	hsa-miR-4465	CLIP-seq
MIRT759454	hsa-miR-4478	CLIP-seq
MIRT759455	hsa-miR-4638-5p	CLIP-seq
MIRT759456	hsa-miR-4685-5p	CLIP-seq
MIRT759457	hsa-miR-4695-3p	CLIP-seq
MIRT759458	hsa-miR-4701-5p	CLIP-seq
MIRT759459	hsa-miR-4716-5p	CLIP-seq
MIRT759460	hsa-miR-4755-3p	CLIP-seq
MIRT759461	hsa-miR-4781-3p	CLIP-seq
MIRT759462	hsa-miR-5096	CLIP-seq
MIRT759463	hsa-miR-515-5p	CLIP-seq
MIRT759464	hsa-miR-548s	CLIP-seq
MIRT759465	hsa-miR-588	CLIP-seq
MIRT759466	hsa-miR-645	CLIP-seq
MIRT759467	hsa-miR-106a	CLIP-seq
MIRT759468	hsa-miR-106b	CLIP-seq
MIRT759469	hsa-miR-1287	CLIP-seq
MIRT759432	hsa-miR-1297	CLIP-seq
MIRT759470	hsa-miR-150	CLIP-seq
MIRT759471	hsa-miR-17	CLIP-seq
MIRT759436	hsa-miR-197	CLIP-seq
MIRT759472	hsa-miR-20a	CLIP-seq
MIRT759473	hsa-miR-20b	CLIP-seq
MIRT759437	hsa-miR-26a	CLIP-seq
MIRT759438	hsa-miR-26b	CLIP-seq
MIRT759474	hsa-miR-302a	CLIP-seq
MIRT759475	hsa-miR-302b	CLIP-seq
MIRT759476	hsa-miR-302c	CLIP-seq
MIRT759477	hsa-miR-302d	CLIP-seq
MIRT759478	hsa-miR-302e	CLIP-seq
MIRT759440	hsa-miR-3135b	CLIP-seq
MIRT759441	hsa-miR-3187-3p	CLIP-seq
MIRT759445	hsa-miR-3663-5p	CLIP-seq
MIRT759479	hsa-miR-372	CLIP-seq
MIRT759480	hsa-miR-373	CLIP-seq
MIRT759481	hsa-miR-4258	CLIP-seq
MIRT759448	hsa-miR-4317	CLIP-seq
MIRT759451	hsa-miR-4435	CLIP-seq
MIRT759482	hsa-miR-4438	CLIP-seq
MIRT759453	hsa-miR-4465	CLIP-seq
MIRT759456	hsa-miR-4685-5p	CLIP-seq
MIRT759458	hsa-miR-4701-5p	CLIP-seq
MIRT759459	hsa-miR-4716-5p	CLIP-seq
MIRT759460	hsa-miR-4755-3p	CLIP-seq
MIRT759461	hsa-miR-4781-3p	CLIP-seq
MIRT759483	hsa-miR-4793-5p	CLIP-seq
MIRT759484	hsa-miR-5095	CLIP-seq
MIRT759462	hsa-miR-5096	CLIP-seq
MIRT759485	hsa-miR-512-3p	CLIP-seq
MIRT759463	hsa-miR-515-5p	CLIP-seq
MIRT759486	hsa-miR-519d	CLIP-seq
MIRT759487	hsa-miR-520a-3p	CLIP-seq
MIRT759488	hsa-miR-520b	CLIP-seq
MIRT759489	hsa-miR-520c-3p	CLIP-seq
MIRT759490	hsa-miR-520d-3p	CLIP-seq
MIRT759491	hsa-miR-520e	CLIP-seq
MIRT759492	hsa-miR-520g	CLIP-seq
MIRT759493	hsa-miR-520h	CLIP-seq
MIRT759464	hsa-miR-548s	CLIP-seq
MIRT759465	hsa-miR-588	CLIP-seq
MIRT759494	hsa-miR-93	CLIP-seq
MIRT759495	hsa-miR-1237	CLIP-seq
MIRT759496	hsa-miR-1248	CLIP-seq
MIRT759497	hsa-miR-128	CLIP-seq
MIRT759498	hsa-miR-2467-3p	CLIP-seq
MIRT759499	hsa-miR-3120-5p	CLIP-seq
MIRT759500	hsa-miR-3150a-5p	CLIP-seq
MIRT759501	hsa-miR-3150b-5p	CLIP-seq
MIRT759502	hsa-miR-3158-5p	CLIP-seq
MIRT759503	hsa-miR-3182	CLIP-seq
MIRT759504	hsa-miR-3607-3p	CLIP-seq
MIRT759505	hsa-miR-3678-3p	CLIP-seq
MIRT759506	hsa-miR-4256	CLIP-seq
MIRT759507	hsa-miR-4293	CLIP-seq
MIRT759508	hsa-miR-4421	CLIP-seq
MIRT759509	hsa-miR-4491	CLIP-seq
MIRT759510	hsa-miR-4657	CLIP-seq
MIRT759511	hsa-miR-4690-5p	CLIP-seq
MIRT759512	hsa-miR-515-3p	CLIP-seq
MIRT759513	hsa-miR-519e	CLIP-seq
MIRT759514	hsa-miR-544b	CLIP-seq
MIRT759515	hsa-miR-548aa	CLIP-seq
MIRT759516	hsa-miR-550a	CLIP-seq
MIRT759432	hsa-miR-1297	CLIP-seq
MIRT759436	hsa-miR-197	CLIP-seq
MIRT1923827	hsa-miR-1976	CLIP-seq
MIRT759437	hsa-miR-26a	CLIP-seq
MIRT759438	hsa-miR-26b	CLIP-seq
MIRT1923828	hsa-miR-3149	CLIP-seq
MIRT1923829	hsa-miR-411	CLIP-seq
MIRT1923830	hsa-miR-4279	CLIP-seq
MIRT759453	hsa-miR-4465	CLIP-seq
MIRT759456	hsa-miR-4685-5p	CLIP-seq
MIRT759459	hsa-miR-4716-5p	CLIP-seq
MIRT1923831	hsa-miR-4722-3p	CLIP-seq
MIRT1923832	hsa-miR-4735-5p	CLIP-seq
MIRT759460	hsa-miR-4755-3p	CLIP-seq
MIRT1923833	hsa-miR-4775	CLIP-seq
MIRT759461	hsa-miR-4781-3p	CLIP-seq
MIRT759462	hsa-miR-5096	CLIP-seq
MIRT1923834	hsa-miR-520a-5p	CLIP-seq
MIRT1923835	hsa-miR-525-5p	CLIP-seq
MIRT1923836	hsa-miR-590-3p	CLIP-seq
MIRT1923837	hsa-miR-767-5p	CLIP-seq
MIRT759467	hsa-miR-106a	CLIP-seq
MIRT759468	hsa-miR-106b	CLIP-seq
MIRT759469	hsa-miR-1287	CLIP-seq
MIRT759432	hsa-miR-1297	CLIP-seq
MIRT759471	hsa-miR-17	CLIP-seq
MIRT1923827	hsa-miR-1976	CLIP-seq
MIRT759472	hsa-miR-20a	CLIP-seq
MIRT759473	hsa-miR-20b	CLIP-seq
MIRT759498	hsa-miR-2467-3p	CLIP-seq
MIRT759437	hsa-miR-26a	CLIP-seq
MIRT759438	hsa-miR-26b	CLIP-seq
MIRT759474	hsa-miR-302a	CLIP-seq
MIRT759475	hsa-miR-302b	CLIP-seq
MIRT759476	hsa-miR-302c	CLIP-seq
MIRT759477	hsa-miR-302d	CLIP-seq
MIRT759478	hsa-miR-302e	CLIP-seq
MIRT759440	hsa-miR-3135b	CLIP-seq
MIRT759502	hsa-miR-3158-5p	CLIP-seq
MIRT759505	hsa-miR-3678-3p	CLIP-seq
MIRT759479	hsa-miR-372	CLIP-seq
MIRT759480	hsa-miR-373	CLIP-seq
MIRT1923830	hsa-miR-4279	CLIP-seq
MIRT759482	hsa-miR-4438	CLIP-seq
MIRT759453	hsa-miR-4465	CLIP-seq
MIRT759509	hsa-miR-4491	CLIP-seq
MIRT759510	hsa-miR-4657	CLIP-seq
MIRT759456	hsa-miR-4685-5p	CLIP-seq
MIRT759511	hsa-miR-4690-5p	CLIP-seq
MIRT1923831	hsa-miR-4722-3p	CLIP-seq
MIRT759484	hsa-miR-5095	CLIP-seq
MIRT759485	hsa-miR-512-3p	CLIP-seq
MIRT759486	hsa-miR-519d	CLIP-seq
MIRT759487	hsa-miR-520a-3p	CLIP-seq
MIRT759488	hsa-miR-520b	CLIP-seq
MIRT759489	hsa-miR-520c-3p	CLIP-seq
MIRT759490	hsa-miR-520d-3p	CLIP-seq
MIRT759491	hsa-miR-520e	CLIP-seq
MIRT759492	hsa-miR-520g	CLIP-seq
MIRT759493	hsa-miR-520h	CLIP-seq
MIRT759494	hsa-miR-93	CLIP-seq
MIRT759443	hsa-miR-3650	CLIP-seq
MIRT759431	hsa-miR-122	CLIP-seq
MIRT2442935	hsa-miR-1267	CLIP-seq
MIRT759439	hsa-miR-3135	CLIP-seq
MIRT759440	hsa-miR-3135b	CLIP-seq
MIRT1923828	hsa-miR-3149	CLIP-seq
MIRT2442936	hsa-miR-3194-3p	CLIP-seq
MIRT759444	hsa-miR-3652	CLIP-seq
MIRT759446	hsa-miR-3929	CLIP-seq
MIRT1923829	hsa-miR-411	CLIP-seq
MIRT2442937	hsa-miR-431	CLIP-seq
MIRT759449	hsa-miR-4419b	CLIP-seq
MIRT2442938	hsa-miR-4423-5p	CLIP-seq
MIRT759450	hsa-miR-4430	CLIP-seq
MIRT759454	hsa-miR-4478	CLIP-seq
MIRT1923832	hsa-miR-4735-5p	CLIP-seq
MIRT759460	hsa-miR-4755-3p	CLIP-seq
MIRT2442939	hsa-miR-4774-3p	CLIP-seq
MIRT1923833	hsa-miR-4775	CLIP-seq
MIRT2442940	hsa-miR-4797-5p	CLIP-seq
MIRT1923836	hsa-miR-590-3p	CLIP-seq
MIRT759466	hsa-miR-645	CLIP-seq
MIRT2442941	hsa-miR-924	CLIP-seq
MIRT759431	hsa-miR-122	CLIP-seq
MIRT759432	hsa-miR-1297	CLIP-seq
MIRT759433	hsa-miR-1307	CLIP-seq
MIRT759434	hsa-miR-140-5p	CLIP-seq
MIRT759435	hsa-miR-142-3p	CLIP-seq
MIRT759437	hsa-miR-26a	CLIP-seq
MIRT759438	hsa-miR-26b	CLIP-seq
MIRT759439	hsa-miR-3135	CLIP-seq
MIRT759440	hsa-miR-3135b	CLIP-seq
MIRT1923828	hsa-miR-3149	CLIP-seq
MIRT759442	hsa-miR-3545-5p	CLIP-seq
MIRT759443	hsa-miR-3650	CLIP-seq
MIRT759444	hsa-miR-3652	CLIP-seq
MIRT759446	hsa-miR-3929	CLIP-seq
MIRT1923829	hsa-miR-411	CLIP-seq
MIRT759447	hsa-miR-4280	CLIP-seq
MIRT759448	hsa-miR-4317	CLIP-seq
MIRT759449	hsa-miR-4419b	CLIP-seq
MIRT2442938	hsa-miR-4423-5p	CLIP-seq
MIRT759450	hsa-miR-4430	CLIP-seq
MIRT759452	hsa-miR-4460	CLIP-seq
MIRT759453	hsa-miR-4465	CLIP-seq
MIRT759454	hsa-miR-4478	CLIP-seq
MIRT759455	hsa-miR-4638-5p	CLIP-seq
MIRT759456	hsa-miR-4685-5p	CLIP-seq
MIRT759457	hsa-miR-4695-3p	CLIP-seq
MIRT1923832	hsa-miR-4735-5p	CLIP-seq
MIRT759460	hsa-miR-4755-3p	CLIP-seq
MIRT2442939	hsa-miR-4774-3p	CLIP-seq
MIRT1923833	hsa-miR-4775	CLIP-seq
MIRT1923836	hsa-miR-590-3p	CLIP-seq
MIRT759466	hsa-miR-645	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	32579589
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	32792488
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006629	Process	Lipid metabolic process	IBA
GO:0016298	Function	Lipase activity	IDA	32579589
GO:0016787	Function	Hydrolase activity	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	32792488
GO:0052689	Function	Carboxylic ester hydrolase activity	IBA

MIM	HGNC	e!Ensembl
621050	16407	ENSG00000106077

Q8NFV4

Protein name

sn-1-specific diacylglycerol lipase ABHD11 (EC 3.1.1.116) (Alpha/beta hydrolase domain-containing protein 11) (Abhydrolase domain-containing protein 11) (Williams-Beuren syndrome chromosomal region 21 protein)

Protein 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 (PubMed:32579589). 1,2-diacyl-sn-glycerols are the preferred substrate o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12697	Abhydrolase_6	69 → 310	Alpha/beta hydrolase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:12073013). Highly expressed in small intestine, prostate and thyroid, while aorta and colon tissues exhibit weak expression levels (PubMed:32579589). {ECO:0000269|PubMed:12073013, ECO:0000269|PubMed:32579

Sequence

MRAGQQLASMLRWTRAWRLPREGLGPHGPSFARVPVAPSSSSGGRGGAEPRPLPLSYRLL
DGEAALPAVVFLHGLFGSKTNFNSIAKILAQQTGRRVLTVDARNHGDSPHSPDMSYEIMS
QDLQDLLPQLGLVPCVVVGHSMGGKTAMLLALQRPELVERLIAVDISPVESTGVSHFATY
VAAMRAINIADELPRSRARKLADEQLSSVIQDMAVRQHLLTNLVEVDGRFVWRVNLDALT
QHLDKILAFPQRQESYLGPTLFLLGGNSQFVHPSHHPEIMRLFPRAQMQTVPNAGHWIHA
DRPQDFIAAIRGFLV

Sequence length

315

Interactions

View interactions

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28465236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34446052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31409775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28818073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28818073, 31568657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30429229	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28818073, 31568657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31409775	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28818073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30575903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31409775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	24984296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26280398, 28157695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31409775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28157695	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35186240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	25105779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABHD11 (abhydrolase domain containing 11)