ABHD11
sn-1-specific diacylglycerol lipase ABHD11
Also known as: ABHDB_HUMAN, PP1226, WBSCR21
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NFV4
- Gene
- ABHD11
- Ensembl
- ENSG00000106077
- Chromosome
- 7
- Canonical length
- 306 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
306 residues, UniProt reviewed canonical sequence.
>Q8NFV4|ABHD11
1 MLRWTRAWRL PREGLGPHGP SFARVPVAPS SSSGGRGGAE PRPLPLSYRL LDGEAALPAV
61 VFLHGLFGSK TNFNSIAKIL AQQTGRRVLT VDARNHGDSP HSPDMSYEIM SQDLQDLLPQ
121 LGLVPCVVVG HSMGGKTAML LALQRPELVE RLIAVDISPV ESTGVSHFAT YVAAMRAINI
181 ADELPRSRAR KLADEQLSSV IQDMAVRQHL LTNLVEVDGR FVWRVNLDAL TQHLDKILAF
241 PQRQESYLGP TLFLLGGNSQ FVHPSHHPEI MRLFPRAQMQ TVPNAGHWIH ADRPQDFIAA
301 IRGFLVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABHD11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- colon: 33 nTPM
- kidney: 31 nTPM
- choroid plexus: 30 nTPM
- thyroid gland: 30 nTPM
- pancreas: 28 nTPM
- prostate: 25 nTPM
Single-cell type
- megakaryocytes: 167 nCPM
- migrating cytotrophoblasts: 163 nCPM
- syncytiotrophoblasts: 149 nCPM
- extravillous trophoblasts: 133 nCPM
- urothelial cells: 133 nCPM
- paneth cells: 116 nCPM
Immune cell
- non-classical monocyte: 32 nTPM
- intermediate monocyte: 30 nTPM
- eosinophil: 19 nTPM
- myeloid DC: 18 nTPM
- classical monocyte: 18 nTPM
- neutrophil: 15 nTPM
Brain region
- choroid plexus: 28 nTPM
- thalamus: 19 nTPM
- medulla oblongata: 17 nTPM
- white matter: 17 nTPM
- pons: 16 nTPM
- cerebral cortex: 15 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.94
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.57
- DepMap mean gene effect
- -0.25
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ABHD11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ABHD11 as an antibody target. Whether an autoantibody or antibody against ABHD11 could matter depends on whether native ABHD11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABHD11 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ABHD11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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