This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] See more...

Aliases for ABHD10 Gene

Aliases for ABHD10 Gene

  • Abhydrolase Domain Containing 10, Depalmitoylase 2 3 5
  • Mycophenolic Acid Acyl-Glucuronide Esterase, Mitochondrial 2 3 4
  • Palmitoyl-Protein Thioesterase ABHD10, Mitochondrial 3 4
  • Acyl-Protein Thioesterase ABHD10 3 4
  • Alpha/Beta Hydrolase Domain-Containing Protein 10, Mitochondrial 3
  • Abhydrolase Domain-Containing Protein 10, Mitochondrial 3
  • Alpha/Beta Hydrolase Domain-Containing Protein 10 4
  • Abhydrolase Domain-Containing Protein 10 4
  • Abhydrolase Domain Containing 10 2
  • EC 3.1.2.22 4
  • EC 3.1.1.93 4
  • FLJ11342 2
  • ABHD10 5

External Ids for ABHD10 Gene

Previous GeneCards Identifiers for ABHD10 Gene

  • GC03P113181
  • GC03P111697
  • GC03P109073

Summaries for ABHD10 Gene

Entrez Gene Summary for ABHD10 Gene

  • This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for ABHD10 Gene

ABHD10 (Abhydrolase Domain Containing 10, Depalmitoylase) is a Protein Coding gene. Diseases associated with ABHD10 include Hypotonia-Cystinuria Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include serine-type peptidase activity and hydrolase activity, hydrolyzing O-glycosyl compounds.

UniProtKB/Swiss-Prot Summary for ABHD10 Gene

  • Acts as an acyl-protein thioesterase that hydrolyzes fatty acids from acylated residues in proteins (PubMed:31740833). Regulates the mitochondrial S-depalmitoylation of the nucleophilic active site residue of peroxiredoxin-5/PRDX5, a key antioxidant protein, therefore modulating mitochondrial antioxidant ability (PubMed:31740833). Also catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, an active metabolite of the immunosuppressant drug mycophenolate (PubMed:22294686).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD10 Gene

Genomics for ABHD10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J111978 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 259.4 +1.0 1025 3.9 ZNF207 ZNF600 POLR2A CEBPA ZNF10 ZIC2 YY1 MXD4 BCL11A CEBPB ABHD10 NONHSAG035726.2 PLCXD2 PLCXD2-AS1 TAGLN3
GH03J111977 Promoter 0.3 Ensembl 259.6 -1.1 -1109 0.2 ABHD10 NONHSAG035726.2 HSALNG0028016 PHLDB2
GH03J111998 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 16.8 +21.8 21787 4.9 POLR2A ZIC2 SIN3A ZNF513 EBF1 JUND PKNOX1 TAF1 EGR1 BHLHE40 HSALNG0028018 TAGLN3 ABHD10 CD96 RFKP2 TMPRSS7
GH03J111858 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -116.4 -116400 8.6 ZNF600 JUND ATF2 CEBPA BRCA1 ZIC2 ZBTB10 YY1 CEBPB FEZF1 PHLDB2 ENSG00000286492 LOC105374040 ABHD10 PLCXD2 TAGLN3 PLCXD2-AS1 SLC9C1 lnc-ZBED2-3 SNODB1755
GH03J112083 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 +107.4 107402 5.2 ZNF600 MYC ZNF223 ZNF10 POLR2A ZIC2 ZBTB10 YY1 MXD4 SMAD5 C3orf52 HSALNG0028022 SLC9C1 TBILA MIR567 ABHD10 GCSAM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD10

Top Transcription factor binding sites by QIAGEN in the ABHD10 gene promoter:
  • C/EBPbeta
  • GR
  • GR-alpha
  • IRF-7A
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • USF-1
  • USF1
  • ZID

Genomic Locations for ABHD10 Gene

Latest Assembly
chr3:111,979,010-111,993,368
(GRCh38/hg38)
Size:
14,359 bases
Orientation:
Plus strand

Previous Assembly
chr3:111,697,873-111,712,215
(GRCh37/hg19 by Entrez Gene)
Size:
14,343 bases
Orientation:
Plus strand

chr3:111,697,857-111,712,210
(GRCh37/hg19 by Ensembl)
Size:
14,354 bases
Orientation:
Plus strand

Genomic View for ABHD10 Gene

Genes around ABHD10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD10 Gene

Proteins for ABHD10 Gene

  • Protein details for ABHD10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUJ1-ABHDA_HUMAN
    Recommended name:
    Palmitoyl-protein thioesterase ABHD10, mitochondrial
    Protein Accession:
    Q9NUJ1
    Secondary Accessions:
    • B7Z6A8
    • C9IZX5
    • D3DN63
    • Q8TCF9

    Protein attributes for ABHD10 Gene

    Size:
    306 amino acids
    Molecular mass:
    33933 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD10 Gene

Post-translational modifications for ABHD10 Gene

  • Ubiquitination at Lys200
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD10 Gene

No data available for DME Specific Peptides for ABHD10 Gene

Domains & Families for ABHD10 Gene

Gene Families for ABHD10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ABHD10 Gene

InterPro:
Blocks:
  • Alpha/beta hydrolase fold signature

Suggested Antigen Peptide Sequences for ABHD10 Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein 10, mitochondrial (ABHDA_HUMAN)
  • cDNA FLJ50858, highly similar to Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA (B7Z6A8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NUJ1

UniProtKB/Swiss-Prot:

ABHDA_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD10: view

Function for ABHD10 Gene

Molecular function for ABHD10 Gene

UniProtKB/Swiss-Prot Function:
Acts as an acyl-protein thioesterase that hydrolyzes fatty acids from acylated residues in proteins (PubMed:31740833). Regulates the mitochondrial S-depalmitoylation of the nucleophilic active site residue of peroxiredoxin-5/PRDX5, a key antioxidant protein, therefore modulating mitochondrial antioxidant ability (PubMed:31740833). Also catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, an active metabolite of the immunosuppressant drug mycophenolate (PubMed:22294686).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + S-hexadecanoyl-L-cysteinyl-[protein] = H(+) + hexadecanoate + L-cysteinyl-[protein]; Xref=Rhea:RHEA:19233, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11032, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:74151; EC=3.1.2.22; Evidence={ECO:0000269|PubMed:31740833};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + mycophenolic acid O-acyl-beta-D-glucuronide = D-glucuronate + H(+) + mycophenolate; Xref=Rhea:RHEA:34179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58720, ChEBI:CHEBI:62932, ChEBI:CHEBI:66982; EC=3.1.1.93; Evidence={ECO:0000269|PubMed:22294686};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=100.7 uM for mycophenolic acid O-acyl-beta-D-glucuronide {ECO:0000269|PubMed:22294686}; Vmax=47.6 nmol/min/mg enzyme with mycophenolic acid O-acyl-beta-D-glucuronide as substrate {ECO:0000269|PubMed:22294686};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by palmostatin-B.

Enzyme Numbers (IUBMB) for ABHD10 Gene

Phenotypes From GWAS Catalog for ABHD10 Gene

Gene Ontology (GO) - Molecular Function for ABHD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IDA,TAS --
GO:0008474 palmitoyl-(protein) hydrolase activity IEA,IDA 31740833
GO:0016787 hydrolase activity IEA --
GO:0102390 mycophenolic acid acyl-glucuronide esterase activity IEA --
genes like me logo Genes that share ontologies with ABHD10: view
genes like me logo Genes that share phenotypes with ABHD10: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ABHD10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD10

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD10 Gene

Localization for ABHD10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD10 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD10 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 31740833
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA 22294686
genes like me logo Genes that share ontologies with ABHD10: view

Pathways & Interactions for ABHD10 Gene

genes like me logo Genes that share pathways with ABHD10: view

Pathways by source for ABHD10 Gene

Gene Ontology (GO) - Biological Process for ABHD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation IDA 31740833
GO:0018215 protein phosphopantetheinylation IEA --
GO:0019391 glucuronoside catabolic process IDA 22294686
GO:0052695 cellular glucuronidation TAS --
genes like me logo Genes that share ontologies with ABHD10: view

No data available for SIGNOR curated interactions for ABHD10 Gene

Drugs & Compounds for ABHD10 Gene

(2) Drugs for ABHD10 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolic acid Approved Pharma 1134
Water Approved Pharma 0

(2) Additional Compounds for ABHD10 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Glucuronic acid
  • GlcAa
  • GlcAalpha
  • D-Glucuronate
  • alpha-D-Glucopyranuronic acid
  • alpha-D-Glucuronic acid
70021-34-0
Mycophenolic acid O-acyl-glucuronide
  • AcMPAG
  • Mycophenolic acid acyl glucuronide
  • Mycophenolic acid acyl-glucuronide
  • Mycophenolic acid-O-acyl-beta-D-glucopyranuronoside
  • Mycophenolate acyl glucuronide
genes like me logo Genes that share compounds with ABHD10: view

Transcripts for ABHD10 Gene

mRNA/cDNA for ABHD10 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD10

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD10 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: - -
SP3:

Relevant External Links for ABHD10 Gene

GeneLoc Exon Structure for
ABHD10

Expression for ABHD10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABHD10 Gene

This gene is overexpressed in Salivary gland (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD10 Gene



Protein tissue co-expression partners for ABHD10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD10

SOURCE GeneReport for Unigene cluster for ABHD10 Gene:

Hs.477115

Evidence on tissue expression from TISSUES for ABHD10 Gene

  • Liver(4.4)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with ABHD10: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD10 Gene

Orthologs for ABHD10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABHD10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABHD10 29 30
  • 99.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABHD10 29 30
  • 86.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABHD10 29 30
  • 85.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abhd10 29 16 30
  • 81.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd10 29
  • 80.94 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABHD10 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABHD10 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABHD10 29 30
  • 67.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABHD10 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abhd10 29
  • 68.21 (n)
Str.11875 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.14582 29
Zebrafish
(Danio rerio)
Actinopterygii abhd10a 29 30
  • 62.21 (n)
OneToMany
abhd10b 30
  • 59 (a)
OneToMany
wufb10b08 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4816 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToOne
Species where no ortholog for ABHD10 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ABHD10 Gene

ENSEMBL:
Gene Tree for ABHD10 (if available)
TreeFam:
Gene Tree for ABHD10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD10: view image
Alliance of Genome Resources:
Additional Orthologs for ABHD10

Paralogs for ABHD10 Gene

Pseudogenes.org Pseudogenes for ABHD10 Gene

genes like me logo Genes that share paralogs with ABHD10: view

No data available for Paralogs for ABHD10 Gene

Variants for ABHD10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD10 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs17429033 -- p.Ile251Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABHD10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for ABHD10 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD10
Leiden Open Variation Database (LOVD)
ABHD10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ABHD10 Gene

Disorders for ABHD10 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD10 Gene - From: COP

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABHD10

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ABHD10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD10 Gene

Publications for ABHD10 Gene

  1. Human α/β hydrolase domain containing 10 (ABHD10) is responsible enzyme for deglucuronidation of mycophenolic acid acyl-glucuronide in liver. (PMID: 22294686) Iwamura A … Yokoi T (The Journal of biological chemistry 2012) 2 3 4
  2. ABHD10 is an S-depalmitoylase affecting redox homeostasis through peroxiredoxin-5. (PMID: 31740833) Cao Y … Dickinson BC (Nature chemical biology 2019) 3 4
  3. An orphan esterase ABHD10 modulates probenecid acyl glucuronidation in human liver. (PMID: 25217485) Ito Y … Nakajima M (Drug metabolism and disposition: the biological fate of chemicals 2014) 2 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for ABHD10 Gene

Sources for ABHD10 Gene