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Aliases for ABHD6 Gene
Aliases for ABHD6 Gene
External Ids for ABHD6 Gene
- HGNC: 21398
- Entrez Gene: 57406
- Ensembl: ENSG00000163686
- OMIM: 616966
- UniProtKB: Q9BV23
Previous GeneCards Identifiers for ABHD6 Gene
- GC03P058078
- GC03P058180
Summaries for ABHD6 Gene
GeneCards Summary for ABHD6 Gene
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.
UniProtKB/Swiss-Prot Summary for ABHD6 Gene
-
Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015).
Additional gene information for ABHD6 Gene
- HGNC(21398)
- Entrez Gene(57406)
- Ensembl(ENSG00000163686)
- OMIM(616966)
- UniProtKB(Q9BV23)
- Open Targets Platform(ENSG00000163686)
- Search for ABHD6 at DataMed
- Search for ABHD6 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD6 Gene
Genomics for ABHD6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ABHD6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ABHD6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD6
- Top Transcription factor binding sites by QIAGEN in the ABHD6 gene promoter:
-
- AML1a
- AP-1
- Bach2
- c-Fos
- c-Jun
- FosB
- Fra-1
- HNF-4alpha2
- JunB
- JunD
Genomic Locations for ABHD6 Gene
Genomic Locations for ABHD6 Gene
- chr3:58,237,502-58,295,693
- (GRCh38/hg38)
- Size:
- 58,192 bases
- Orientation:
- Plus strand
- chr3:58,223,233-58,281,420
- (GRCh37/hg19)
- Size:
- 58,188 bases
- Orientation:
- Plus strand
Genomic View for ABHD6 Gene
Genes around ABHD6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.3 by HGNC
- 3p14.3 by Entrez Gene
- 3p14.3 by Ensembl
ABHD6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ABHD6 Gene
Proteins for ABHD6 Gene
-
Protein details for ABHD6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BV23-ABHD6_HUMAN
- Recommended name:
- Monoacylglycerol lipase ABHD6
- Protein Accession:
- Q9BV23
- B2R7Y9
- Q6ZMF7
Protein attributes for ABHD6 Gene
- Size:
- 337 amino acids
- Molecular mass:
- 38331 Da
- Quaternary structure:
- No Data Available
Protein Expression for ABHD6 Gene
Selected DME Specific Peptides for ABHD6 Gene
- Q9BV23:
-
- LENCGHSVVMERPRK
- VKFLPKNLHLVCVDMPGHEGT
- IYYWYWRR
- LQGLVDVRIPHN
- LVCPAGLQYSTDN
- GQVKRIHQFVE
- PTQIIWGKQDQVLDVSGA
Post-translational modifications for ABHD6 Gene
Other Protein References for ABHD6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ABHD6 Antibody
- G Biosciences Immunotag™ ABHD6 Antibody
- Creative Diagnostics Anti-ABHD6 (aa 288-337) polyclonal antibody
- Novus Biologicals Antibodies for ABHD6
-
Abcam antibodies for ABHD6
- Invitrogen Antibodies for ABHD6 (AFLGC-ABHD6)
-
Biorbyt antibodies for ABHD6
-
Boster Bio Antibodies for ABHD6
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ABHD6
- Origene Custom Protein Services for ABHD6
-
Abcam proteins for ABHD6
Assay Products
- Novus Biologicals ELISA Kits for ABHD6
- antibodies-online: Show 6 available ABHD6 Elisa Kits ranked by validation data
- Compare Top ABHD6 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for ABHD6
Domains & Families for ABHD6 Gene
Gene Families for ABHD6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for ABHD6 Gene
- InterPro:
- Blocks:
-
- Alpha/beta hydrolase fold
- Alpha/beta hydrolase fold signature
- Epoxide hydrolase signature
- ProtoNet:
Suggested Antigen Peptide Sequences for ABHD6 Gene
- GenScript: Design optimal peptide antigens:
-
- Abhydrolase domain-containing protein 6 (ABHD6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BV23- Family:
-
- Belongs to the AB hydrolase superfamily.
Function for ABHD6 Gene
Molecular function for ABHD6 Gene
- UniProtKB/Swiss-Prot Function:
- Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Hydrolyzes glycerol monoesters of long-chain fatty acids.; EC=3.1.1.23; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-octanoylglycerol + H2O = glycerol + H(+) + octanoate; Xref=Rhea:RHEA:44328, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:25646, ChEBI:CHEBI:85241; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-decanoylglycerol + H2O = decanoate + glycerol + H(+); Xref=Rhea:RHEA:44320, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:27689, ChEBI:CHEBI:75547; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-dodecanoylglycerol + H2O = dodecanoate + glycerol + H(+); Xref=Rhea:RHEA:44316, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:18262, ChEBI:CHEBI:75539; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-tetradecanoylglycerol + H2O = glycerol + H(+) + tetradecanoate; Xref=Rhea:RHEA:44312, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30807, ChEBI:CHEBI:75562; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39963, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:75455; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38487, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:75342; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)-octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:44732, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75457; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:26132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:52392; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:44728, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:75612; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)-octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:48428, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75568; Evidence={ECO:0000269|PubMed:22969151};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(S,S)-3-(9Z-octadecenoyl)-sn-glycero-1-phospho-(3'-(9Z-octadecenoyl)-1'-sn-glycerol) + H2O = (9Z)-octadecenoate + (S,S)-3-(9Z-octadecenoyl)-sn-glycero-1-phospho-(1'-sn-glycerol) + H(+); Xref=Rhea:RHEA:55712, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:139150, ChEBI:CHEBI:139152; Evidence={ECO:0000269|PubMed:26491015};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(S,S)-2-(9Z-octadecenoyl)-sn-glycero-1-phospho-(2'-(9Z-octadecenoyl)-1'-sn-glycerol) + H2O = (9Z)-octadecenoate + (S,S)-2-(9Z-octadecenoyl)-sn-glycero-1-phospho-(1'-sn-glycerol) + H(+); Xref=Rhea:RHEA:55716, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:139156, ChEBI:CHEBI:139157; Evidence={ECO:0000250|UniProtKB:Q8R2Y0};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(R,R)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(2'-(9Z-octadecenoyl)-3'-sn-glycerol) + H2O = (9Z)-octadecenoate + (R,R)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(3'-sn-glycerol) + H(+); Xref=Rhea:RHEA:55804, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:139228, ChEBI:CHEBI:139230; Evidence={ECO:0000250|UniProtKB:Q8R2Y0};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=159 uM for 2-arachidonoyglycerol {ECO:0000269|PubMed:22969151}; Vmax=45 nmol/min/mg enzyme toward 2-arachidonoyglycerol {ECO:0000269|PubMed:22969151}; pH dependence: Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate. {ECO:0000269|PubMed:22969151};
Enzyme Numbers (IUBMB) for ABHD6 Gene
Phenotypes From GWAS Catalog for ABHD6 Gene
| 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 |
Phenotypes for ABHD6 Gene
- MGI mutant phenotypes for ABHD6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ABHD6:
Animal Models for ABHD6 Gene
- MGI Knock Outs for ABHD6:
-
- Abhd6 Abhd6<tm1a(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABHD6 - Select products 50% OFF >
- * ABHD6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABHD6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABHD6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABHD6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABHD6
- Browse OriGene Inhibitory RNA Products For ABHD6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD6
Clone Products
- Applied Biological Materials (abm): Clones for ABHD6 - Select products 50% OFF >
- * ABHD6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ABHD6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABHD6
Cell Line Products
-
Horizon Cell Lines for ABHD6
No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD6 Gene
Localization for ABHD6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ABHD6 Gene
- Late endosome membrane. Single-pass type II membrane protein. Lysosome membrane. Single-pass type II membrane protein. Mitochondrion membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| mitochondrion | 4 |
| endosome | 4 |
| lysosome | 4 |
| extracellular | 3 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for ABHD6 Gene
| 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 | ||
Pathways by source for ABHD6 Gene
1 BioSystems pathway for ABHD6 Gene
1 KEGG pathway for ABHD6 Gene
1 Cell Signaling Technology pathway for ABHD6 Gene
Interacting Proteins for ABHD6 Gene
Selected Interacting proteins:
Q9BV23-ABHD6_HUMAN
ENSP00000420315
for ABHD6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ABHD6
| 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 | -- |
No data available for SIGNOR curated interactions for ABHD6 Gene
Drugs & Compounds for ABHD6 Gene
| 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 |
(3) Tocris Compounds for ABHD6 Gene
| 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 |
(1) ApexBio Compounds for ABHD6 Gene
| Compound | Action | Cas Number |
|---|---|---|
| WWL 70 | α/β-hydrolase domain 6 inhibitor | 947669-91-2 |
Transcripts for ABHD6 Gene
mRNA/cDNA for ABHD6 Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000478253 2198 nts (view in UCSC)
- ENST00000295962 2393 nts (view in UCSC)
- ENST00000475982 593 nts (view in UCSC)
- ENST00000463756 921 nts (view in UCSC)
- ENST00000485900 768 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABHD6 - Select products 50% OFF >
- * ABHD6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABHD6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABHD6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABHD6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABHD6
- Browse OriGene Inhibitory RNA Products For ABHD6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD6
Clone Products
- Applied Biological Materials (abm): Clones for ABHD6 - Select products 50% OFF >
- * ABHD6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ABHD6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABHD6
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for ABHD6 Gene
- GeneLoc Exon Structure for
- ABHD6
Expression for ABHD6 Gene
This gene is overexpressed in Nasal epithelium (44.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD6
SOURCE GeneReport for Unigene cluster for ABHD6 Gene:
Hs.476454Evidence on tissue expression from TISSUES for ABHD6 Gene
- Nervous system(4.9)
- Skin(4.4)
- Lung(4.3)
- Kidney(2.7)
- Liver(2.5)
- Spleen(2.2)
Primer Products
-
OriGene qPCR primer pairs for ABHD6
-
OriGene qPCR primer pairs and template standards for ABHD6
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD6 Gene
Orthologs for ABHD6 Gene
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 |
|
- Species where no ortholog for ABHD6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ABHD6 Gene
- ENSEMBL:
- Gene Tree for ABHD6 (if available)
- TreeFam:
- Gene Tree for ABHD6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ABHD6: view image
Paralogs for ABHD6 Gene
Variants for ABHD6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD6 Gene
| 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 |
Residual Variation Intolerance Score:
18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.86;
18.00% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ABHD6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD6 Gene
Disorders for ABHD6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
|
|
| retinitis pigmentosa |
|
|
Search ABHD6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ABHD6
No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD6 Gene
Publications for ABHD6 Gene
- α/β Hydrolase Domain-containing 6 (ABHD6) Degrades the Late Endosomal/Lysosomal Lipid Bis(monoacylglycero)phosphate. (PMID: 26491015) Pribasnig MA … Zimmermann R (The Journal of biological chemistry 2015) 2 3 4
- Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D … Laitinen JT (Journal of lipid research 2012) 2 3 4
- Optimization of 1,2,5-thiadiazole carbamates as potent and selective ABHD6 inhibitors. (PMID: 25504894) Patel JZ … Parkkari T (ChemMedChem 2015) 2 3
- The serine hydrolase ABHD6 Is a critical regulator of the metabolic syndrome. (PMID: 24095738) Thomas G … Brown JM (Cell reports 2013) 2 3
- An unannotated alpha/beta hydrolase superfamily member, ABHD6 differentially expressed among cancer cell lines. (PMID: 18360779) Li F … Ji C (Molecular biology reports 2009) 3 23
ExternalLinks
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Sources for ABHD6 Gene
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