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 2 3 5
  • Mycophenolic Acid Acyl-Glucuronide Esterase, Mitochondrial 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
  • EC 3.1.1.93 4

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) is a Protein Coding gene. Diseases associated with ABHD10 include Hypotonia-Cystinuria Syndrome. Among its related pathways are Porphyrin and chlorophyll metabolism and 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

  • Catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, a metabolite of the immunosuppressant drug mycophenolate.

Additional gene information for ABHD10 Gene

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 for ABHD10 Gene

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 509.4 +1.2 1159 3.9 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G PHF8 ZFX ZNF639 ZNF10 ABHD10 NONHSAG035726.2 PLCXD2 PLCXD2-AS1 TAGLN3
GH03J111998 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 16.8 +22.1 22092 5.3 EP300 FOS ZIC2 MXI1 POLR2A SMC3 PHF8 MEF2B ZFHX2 ZNF513 TAGLN3 ABHD10 CD96 lnc-GCSAM-1
GH03J111858 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -116.3 -116266 8.6 FOXK2 CTCF TCF12 JUND ZIC2 POLR2A ZBTB10 ZBTB26 MEF2C CHD1 PHLDB2 ENSG00000286492 LOC105374040 ABHD10 PLCXD2 TAGLN3 PLCXD2-AS1 SLC9C1 lnc-ZBED2-3 RF00012-032
GH03J111931 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -44.1 -44098 7.2 TCF12 FOS EP300 OSR2 FOXA2 FOSL2 CEBPB JUN MAFK JUND piR-31292-125 ABHD10 PLCXD2 PLCXD2-AS1 SLC35A5 PHLDB2 lnc-PLCXD2-2
GH03J112083 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 +107.2 107236 4.6 ZNF217 MYC PHF8 ZFX ZNF639 ZIC2 POLR2A ZBTB10 ZBTB26 TRIM28 C3orf52 SLC9C1 TBILA MIR567 ABHD10 GCSAM piR-50968-084
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ABHD10 Gene
chr3:111,978,876-111,993,368
(GRCh38/hg38)
Size:
14,493 bases
Orientation:
Plus strand
chr3:111,697,828-111,712,210
(GRCh37/hg19)
Size:
14,383 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:
    Mycophenolic acid acyl-glucuronide esterase, 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

Blocks:
  • Alpha/beta hydrolase fold signature
InterPro:
ProtoNet:

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:
Catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, a metabolite of the immunosuppressant drug mycophenolate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + mycophenolic acid O-acyl-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=. ;.

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 TAS --
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 Model Products

  • Taconic Biosciences Mouse Models for ABHD10

CRISPR Products

Clone Products

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
plasma membrane 1
peroxisome 1
nucleus 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 IDA --
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: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 1072
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
6556-12-3
Mycophenolic acid O-acyl-glucuronide
  • AcMPAG
  • Mycophenolic acid acyl glucuronide
  • Mycophenolic acid acyl-glucuronide
  • Mycophenolic acid-O-acyl-beta-D-glucopyranuronoside
  • Mycophenolate O-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 :

CRISPR Products

Clone Products

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(3.3)
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 31 30
  • 99.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD10 31 30
  • 86.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD10 31 30
  • 85.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd10 17 31 30
  • 81.67 (n)
rat
(Rattus norvegicus)
Mammalia Abhd10 30
  • 80.94 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD10 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD10 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD10 31 30
  • 67.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD10 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd10 30
  • 68.21 (n)
Str.11875 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14582 30
zebrafish
(Danio rerio)
Actinopterygii abhd10a 31 30
  • 62.21 (n)
OneToMany
abhd10b 31
  • 59 (a)
OneToMany
wufb10b08 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4816 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for ABHD10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

Additional dbSNP identifiers (rs#s) for ABHD10 Gene

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

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: DISEASES

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

Additional Disease Information for ABHD10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  2. 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 41 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for ABHD10 Gene

Sources for ABHD10 Gene