Free for academic non-profit institutions. Other users need a Commercial license
ABHD6 (Abhydrolase Domain Containing 6, Acylglycerol Lipase) is a Protein Coding gene. Diseases associated with ABHD6 include Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract and Retinitis Pigmentosa. Among its related pathways are GABAergic synapse and RET signaling. Gene Ontology (GO) annotations related to this gene include acylglycerol lipase activity. An important paralog of this gene is SERHL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004620 | phospholipase activity | IBA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0047372 | acylglycerol lipase activity | IBA,IDA | 22969151 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | ISS | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | Effects of PIP2 hydrolysis | ||
3 | RET signaling | ||
4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0009395 | phospholipid catabolic process | IEA | -- |
GO:0030336 | negative regulation of cell migration | IEA | -- |
GO:0046464 | acylglycerol catabolic process | IBA,IDA | 22969151 |
GO:0046889 | positive regulation of lipid biosynthetic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glycerol | Approved, Investigational | Pharma | 197 | |||
Water | Approved | Pharma | 0 | |||
WWL 70 | Pharma | α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor | 0 | |||
Flurofamide | Pharma | Urease inhibitor | 0 | |||
SCH 51344 | Pharma | MTH1 inhibitor, Potent MTH1 inhibitor | 0 |
Compound | Action | Cas Number |
---|---|---|
Flurofamide | Urease inhibitor | 70788-28-2 |
SCH 51344 | Potent MTH1 inhibitor | 171927-40-5 |
WWL 70 | Potent ABHD6 inhibitor | 947669-91-2 |
Compound | Action | Cas Number |
---|---|---|
WWL 70 | α/β-hydrolase domain 6 inhibitor | 947669-91-2 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABHD6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ABHD6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ABHD6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Abhd6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Abhd6 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABHD6 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ABHD6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABHD6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ABHD6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abhd6 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | abhd6-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | abhd6a 30 31 |
|
OneToMany | |
abhd6b 31 |
|
OneToMany | |||
Dr.13980 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708984 | Benign: not provided | 58,274,820(+) | C/T | INTRON_VARIANT | |
rs11544004 | - | p.Ser148Cys | |||
rs199678322 | - | p.Pro204Leu | |||
rs199696239 | - | p.Thr206Pro | |||
rs200333190 | - | p.Arg113His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2660248 | CNV | deletion | 23128226 |
esv3561931 | CNV | deletion | 23714750 |
esv3596242 | CNV | loss | 21293372 |
esv3596243 | CNV | loss | 21293372 |
nsv1001814 | CNV | gain | 25217958 |
nsv528147 | CNV | gain | 19592680 |
nsv590369 | CNV | loss | 21841781 |
nsv834703 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
|
|
retinitis pigmentosa |
|
|