ACOT11
protein-codingacyl-CoA thioesterase 11, the group of StAR related lipid transfer domain containing|Acyl-CoA thioesterases
Gene summary
This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
- THEA
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~96.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ACOT11 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_147161.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 2 | 3 | |||
| missense | 91 | 1 | 92 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 97 | 1 | 2 | 100 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_671517.1 | 16 | MANE Select | |
| Ensembl | ENSP00000340260.2 | 16 | MANE Select | |
| RefSeq | NP_056362.1 | 17 | Standard | |
| Ensembl | ENSP00000360366.3 | 17 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism of lipids
- Mitochondrial Fatty Acid Beta-Oxidation
- Metabolism
- Fatty acid metabolism
Biological Process
- fatty acid metabolic process
- acyl-CoA metabolic process
- response to temperature stimulus
- response to cold
- intracellular signal transduction
Molecular Function
- fatty-acyl-CoA binding
- lipid binding
- palmitoyl-CoA hydrolase activity
- long-chain fatty acyl-CoA binding
- acyl-CoA hydrolase activity
Cellular Component
- cytosol
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000371316
- Coding exons
- 17
- Length
- 96936
- Individuals with no LoFs
- 125576
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 172
- Defined
- 125748
- p
- 0.000684
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.539 | 363 | 393 | 0.924 | 0.0000262 | 3933 |
| Missense (PolyPhen) | 105 | 120.73 | 0.86968 | 1162 | ||
| Synonymous | 0.926 | 145 | 160 | 0.907 | 0.0000110 | 1185 |
| Loss of Function | 1.16 | 29 | 36.5 | 0.794 | 0.00000202 | 376 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0026 | 0.0025 | notable |
| Latino/Admixed American | 0.00070 | 0.00069 | rare |
| Ashkenazi Jewish | 0.00040 | 0.00040 | rare |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.000095 | 0.000092 | rare |
| European (Non-Finnish) | 0.00046 | 0.00045 | rare |
| South Asian | 0.0013 | 0.0013 | notable |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates.;
Recessive Scores
- pRec
- 0.139
Intolerance Scores
- LoFtool
- 0.562
- RVIS EVS
- 0.72
- RVIS percentile EVS
- 85.86
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.892
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |