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Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008] See more...
Aliases for AADAC Gene
Aliases for AADAC Gene
External Ids for AADAC Gene
- HGNC: 17
- Entrez Gene: 13
- Ensembl: ENSG00000114771
- OMIM: 600338
- UniProtKB: P22760
Previous GeneCards Identifiers for AADAC Gene
- GC03P148473
- GC03P152364
- GC03P152813
- GC03P152852
- GC03P153014
- GC03P151515
- GC03P151531
- GC03P148922
Summaries for AADAC Gene
-
Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]
GeneCards Summary for AADAC Gene
AADAC (Arylacetamide Deacetylase) is a Protein Coding gene. Diseases associated with AADAC include Gilles De La Tourette Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and triglyceride lipase activity. An important paralog of this gene is AADACL2.
UniProtKB/Swiss-Prot Summary for AADAC Gene
-
Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity.
Additional gene information for AADAC Gene
- HGNC(17)
- Entrez Gene(13)
- Ensembl(ENSG00000114771)
- OMIM(600338)
- UniProtKB(P22760)
- Open Targets Platform(ENSG00000114771)
- Search for AADAC at DataMed
- Search for AADAC at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AADAC Gene
Genomics for AADAC Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AADAC 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 AADAC on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AADAC
- Top Transcription factor binding sites by QIAGEN in the AADAC gene promoter:
-
- aMEF-2
- C/EBPalpha
- FOXO4
- MEF-2A
- POU2F1
- POU2F1a
- TBP
Genomic Locations for AADAC Gene
Genomic Locations for AADAC Gene
- chr3:151,814,008-151,828,488
- (GRCh38/hg38)
- Size:
- 14,481 bases
- Orientation:
- Plus strand
- chr3:151,531,825-151,546,276
- (GRCh37/hg19)
- Size:
- 14,452 bases
- Orientation:
- Plus strand
Genomic View for AADAC Gene
Genes around AADAC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q25.1 by HGNC
- 3q25.1 by Entrez Gene
- 3q25.1 by Ensembl
AADAC 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 AADAC Gene
Proteins for AADAC Gene
-
Protein details for AADAC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P22760-AAAD_HUMAN
- Recommended name:
- Arylacetamide deacetylase
- Protein Accession:
- P22760
- A8K3L3
- D3DNJ6
- Q8N1A9
Protein attributes for AADAC Gene
- Size:
- 399 amino acids
- Molecular mass:
- 45734 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAA35551.1; Type=Frameshift; Evidence={ECO:0000305};
- Miscellaneous:
-
- Can hydrolyze a number of clinical drugs such as flutamide, an antiandrogen drug used for the treatment of prostate cancer; phenacetin, an analgesic antipyretic which has been withdrawn from the market due to its links with renal failure; and rifamycins which have been used as antituberculosis drugs.
Protein Expression for AADAC Gene
Selected DME Specific Peptides for AADAC Gene
- P22760:
-
- GDSAGGNL
- LRRGLFYIHGGGWC
- DPDVKIKLK
- RFWSEYFTTDR
Post-translational modifications for AADAC Gene
- Glycosylation is required for enzyme activity.
-
Glycosylation at Asn78 and Asn282
- NX_P22760 (NX_P22760-1)
- Modification sites at PhosphoSitePlus
Other Protein References for AADAC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents AADAC Antibody
- HUABIO Anti-AADAC Antibody
-
Custom Antibody ServicesOriGene Antibodies for AADAC
- Novus Biologicals Antibodies for AADAC
- Invitrogen Antibodies for AADAC (AFLGC-AADAC)
-
Boster Bio Antibodies for AADAC
-
Santa Cruz Biotechnology (SCBT) Antibodies for AADAC
- Sino Biological Antibodies for AADAC
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AADAC
- Origene Custom Protein Services for AADAC
-
Abcam proteins for AADAC
Domains & Families for AADAC Gene
Gene Families for AADAC Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for AADAC Gene
- InterPro:
- Blocks:
-
- Lipolytic enzyme
- Alpha/beta hydrolase fold-3
- ProtoNet:
Suggested Antigen Peptide Sequences for AADAC Gene
- GenScript: Design optimal peptide antigens:
-
- Arylacetamide deacetylase (AAAD_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P22760- Family:
-
- Belongs to the 'GDXG' lipolytic enzyme family.
Function for AADAC Gene
Molecular function for AADAC Gene
- UniProtKB/Swiss-Prot Function:
- Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.3;.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated following infection with hepatis C virus which results in impaired triacylglycerol lipolysis and impaired assembly of very low density lipoproteins. This may represent a cellular adaptation to infection that is aimed at limiting viral production.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.8 mM for flutamide {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=0.6 mM for flutamide {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=0.472 mM for flutamide {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=3.05 mM for phenacetin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=1.8 mM for phenacetin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=1.42 mM for phenacetin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=0.2 mM for rifampicin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; KM=0.154 mM for rifampicin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=1.1 nmol/min/mg enzyme toward flutamide {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=0.617 nmol/min/mg enzyme toward flutamide {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=1.34 nmol/min/mg enzyme toward phenacetin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=6.4 nmol/min/mg enzyme toward phenacetin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=1.42 nmol/min/mg enzyme toward phenacetin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=0.149 nmol/min/mg enzyme toward rifampicin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761}; Vmax=0.060 nmol/min/mg enzyme toward rifampicin {ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:24125761};
- GENATLAS Biochemistry:
- arylacetamide deacetylase,microsomal,liver
Enzyme Numbers (IUBMB) for AADAC Gene
Phenotypes From GWAS Catalog for AADAC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | TAS | 8063807 |
| GO:0004806 | triglyceride lipase activity | IBA,ISS | -- |
| GO:0016298 | lipase activity | TAS | 11481320 |
| GO:0016787 | hydrolase activity | IEA,IBA | 21873635 |
| GO:0017171 | serine hydrolase activity | IBA,IDA | 17936933 |
Phenotypes for AADAC Gene
- GenomeRNAi human phenotypes for AADAC:
-
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability ratio
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in ovarian lineage
- Decreased viability with paclitaxel
Animal Model Products
-
Taconic Biosciences Mouse Models for AADAC
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AADAC - Select products 50% OFF >
- * AADAC 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 AADAC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AADAC
-
Santa Cruz Biotechnology (SCBT) CRISPR for AADAC
miRNA for AADAC Gene
- miRTarBase miRNAs that target AADAC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AADAC
- Browse OriGene Inhibitory RNA Products For AADAC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AADAC
Clone Products
- Applied Biological Materials (abm): Clones for AADAC - Select products 50% OFF >
- * AADAC 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 AADAC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AADAC
Cell Line Products
-
Horizon Cell Lines for AADAC
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AADAC Gene
Localization for AADAC Gene
Subcellular locations from UniProtKB/Swiss-Prot for AADAC Gene
- Endoplasmic reticulum membrane. Single-pass type II membrane protein. Microsome membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| extracellular | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031090 | organelle membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AADAC Gene
Pathways & Interactions for AADAC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | Metabolism |
.40
|
|
Pathways by source for AADAC Gene
3 Reactome pathways for AADAC Gene
Interacting Proteins for AADAC Gene
Selected Interacting proteins:
P22760-AAAD_HUMAN
ENSP00000232892
for AADAC Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for AADAC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006805 | xenobiotic metabolic process | TAS | -- |
| GO:0009056 | catabolic process | IBA | -- |
| GO:0010898 | positive regulation of triglyceride catabolic process | IEA,ISS | -- |
No data available for SIGNOR curated interactions for AADAC Gene
Drugs & Compounds for AADAC Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Aminosalicylic acid |
|
570-23-0 |
|
|||
| Diglycerides Group D |
|
|
Transcripts for AADAC Gene
mRNA/cDNA for AADAC Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000232892 1563 nts (view in UCSC)
- ENST00000488869 719 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AADAC - Select products 50% OFF >
- * AADAC 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 AADAC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AADAC
-
Santa Cruz Biotechnology (SCBT) CRISPR for AADAC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AADAC
- Browse OriGene Inhibitory RNA Products For AADAC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AADAC
Clone Products
- Applied Biological Materials (abm): Clones for AADAC - Select products 50% OFF >
- * AADAC 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 AADAC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AADAC
Relevant External Links for AADAC Gene
- GeneLoc Exon Structure for
- AADAC
Expression for AADAC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Presumptive Podocytes Podocyte Layer
- Proximal Tubule Cells Proximal Tubule
- Loop of Henle
- Proximal Tubule
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Presumptive Podocytes Podocyte Layer
- Proximal Tubule Cells Proximal Tubule
- Duct Cells Pancreatic Ducts
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
- Intermediate Mesoderm (Gastrulation Derivatives)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
- Eye (Sensory Organs)
- Liver (Hepatobiliary System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for AADAC Gene
This gene is overexpressed in Adrenal Gland (x26.7) and Liver (x17.4).
This gene is overexpressed in Gallbladder (28.7), Liver (20.6), Adrenal (9.3), and Fetal Liver (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AADAC Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AADAC
SOURCE GeneReport for Unigene cluster for AADAC Gene:
Hs.506908mRNA Expression by UniProt/SwissProt for AADAC Gene:
P22760-AAAD_HUMAN
Tissue specificity:
Detected in liver (at protein level). Mainly expressed in liver, small intestine, colon, adrenal gland and bladder.
Evidence on tissue expression from TISSUES for AADAC Gene
- Liver(4.7)
- Intestine(4.6)
- Heart(4.1)
- Adrenal gland(2.2)
Primer Products
-
OriGene qPCR primer pairs for AADAC
-
OriGene qPCR primer pairs and template standards for AADAC
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AADAC Gene
Orthologs for AADAC Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AADAC 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AADAC 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AADAC 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Aadac 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Aadac 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AADAC 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AADACL2 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aadac 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100148912 30 |
|
||
| aadac 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | trcs-1 31 |
|
ManyToMany | |
| F16F9.4 31 |
|
ManyToMany | |||
| T09B9.1 31 |
|
ManyToMany | |||
| Y43F8A.3 31 |
|
ManyToMany | |||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1039.03 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for AADAC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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 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)
Evolution for AADAC Gene
- ENSEMBL:
- Gene Tree for AADAC (if available)
- TreeFam:
- Gene Tree for AADAC (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AADAC: view image
Paralogs for AADAC Gene
(4) SIMAP similar genes for AADAC Gene using alignment to 2 proteins:
- AAAD_HUMAN
- C9K0E9_HUMAN
Pseudogenes.org Pseudogenes for AADAC Gene
Variants for AADAC Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for AADAC Gene
- AAAD_HUMAN-P22760
- Three alleles are known: AADAC*1, AADAC*2 and AADAC*3. The sequence shown is that of AADAC*1 which is found in European American, African American, Japanese and Korean populations at allelic frequencies of 39.3 to 47.4%. The AADAC*2 allele is found in European American, African American, Korean, and Japanese populations at allelic frequencies of 52.6 to 63.5% whereas the AADAC*3 allele is found in European American (1.3%) and African American (2.0%) samples but not in Japanese or Korean samples.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AADAC Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1803155 | - | p.Val281Ile |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1419e212 | CNV | loss | 25503493 |
| dgv4919n100 | CNV | loss | 25217958 |
| dgv4920n100 | CNV | loss | 25217958 |
| dgv4921n100 | CNV | loss | 25217958 |
| dgv621n27 | CNV | loss | 19166990 |
| dgv622n27 | CNV | loss | 19166990 |
| dgv8652n54 | CNV | loss | 21841781 |
| dgv8653n54 | CNV | loss | 21841781 |
| dgv8654n54 | CNV | loss | 21841781 |
| dgv8655n54 | CNV | loss | 21841781 |
| esv25716 | CNV | loss | 19812545 |
| esv2672544 | CNV | deletion | 23128226 |
| esv2759189 | CNV | loss | 17122850 |
| esv2763771 | CNV | loss | 21179565 |
| esv3562727 | CNV | deletion | 23714750 |
| esv3598188 | CNV | loss | 21293372 |
| esv3893786 | CNV | loss | 25118596 |
| nsv514175 | CNV | loss | 21397061 |
| nsv517155 | CNV | loss | 19592680 |
| nsv522472 | CNV | loss | 19592680 |
| nsv592056 | CNV | loss | 21841781 |
| nsv592069 | CNV | loss | 21841781 |
| nsv592070 | CNV | loss | 21841781 |
| nsv592072 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
75.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.15;
38.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AADAC Gene
SNP Genotyping and Copy Number Assay Products
Disorders for AADAC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| gilles de la tourette syndrome |
|
|
Search AADAC in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AADAC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for AADAC Gene
Publications for AADAC Gene
- Human liver arylacetamide deacetylase. Molecular cloning of a novel esterase involved in the metabolic activation of arylamine carcinogens with high sequence similarity to hormone-sensitive lipase. (PMID: 8063807) Probst MR … Gasser R (The Journal of biological chemistry 1994) 2 3 4 23
- Human arylacetamide deacetylase is a principal enzyme in flutamide hydrolysis. (PMID: 19339378) Watanabe A … Yokoi T (Drug metabolism and disposition: the biological fate of chemicals 2009) 3 4 23
- Purification and characterization of a human liver arylacetamide deacetylase. (PMID: 2043131) Probst MR … Meyer UA (Biochemical and biophysical research communications 1991) 3 4 23
- N-Glycosylation during translation is essential for human arylacetamide deacetylase enzyme activity. (PMID: 24125761) Muta K … Yokoi T (Biochemical pharmacology 2014) 3 4
- Arylacetamide deacetylase: a novel host factor with important roles in the lipolysis of cellular triacylglycerol stores, VLDL assembly and HCV production. (PMID: 23542347) Nourbakhsh M … Kneteman NM (Journal of hepatology 2013) 3 4
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