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Aliases for ABHD3 Gene

Aliases for ABHD3 Gene

  • Abhydrolase Domain Containing 3 2 3 5
  • Abhydrolase Domain-Containing Protein 3 3 4
  • Alpha/Beta Hydrolase Domain Containing Protein 3 3
  • Lung Alpha/Beta Hydrolase 3 3
  • Phospholipase ABHD3 3
  • EC 3.1.1.32 4
  • EC 3.1.1.4 4
  • EC 3.1.1 61
  • LABH3 3

External Ids for ABHD3 Gene

Previous GeneCards Identifiers for ABHD3 Gene

  • GC18M019106
  • GC18M018961
  • GC18M017482
  • GC18M017484
  • GC18M019230
  • GC18M016077

Summaries for ABHD3 Gene

Entrez Gene Summary for ABHD3 Gene

  • This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABHD3 Gene

ABHD3 (Abhydrolase Domain Containing 3) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include carboxylic ester hydrolase activity and phosphatidylcholine 1-acylhydrolase activity. An important paralog of this gene is ABHD1.

UniProtKB/Swiss-Prot for ABHD3 Gene

  • Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD3 Gene

Genomics for ABHD3 Gene

Regulatory Elements for ABHD3 Gene

Enhancers for ABHD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F021701 1.1 ENCODE 10.8 +1.4 1377 4.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF48 BRCA1 YY1 SLC30A9 ESCO1 ENSG00000264188 ABHD3 SNRPD1 MIR320C1
GH18F021598 1.2 ENCODE 9.5 +104.1 104063 4.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 MIR320C1 MIB1 ENSG00000199977 ABHD3 SNRPD1 ESCO1 GC18P021594
GH18F021684 1.3 Ensembl ENCODE 8.6 +18.6 18615 3.3 ATF1 ARID4B DMAP1 GATA2 SP5 JUNB MIER2 PPARG SMARCB1 KAT8 ABHD3 MIR320C1
GH18F021995 1.2 Ensembl ENCODE 9.1 -294.7 -294658 7.8 PKNOX1 ARID4B DMAP1 THRB ZNF48 ZNF2 RAD21 RARA SCRT2 ZNF143 ESCO1 ABHD3 ENSG00000265656 LINC01900 RNU7-17P
GH18F021484 1.1 Ensembl ENCODE 9.2 +218.8 218771 3.4 SIX4 KLF1 PKNOX1 JUN ZNF384 FEZF1 ZEB1 ZNF316 CTBP1 SCRT2 ENSG00000221139 ABHD3 ROCK1 LOC101927521 GC18P021594
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD3 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000632 605 2801 HDGF PKNOX1 ARNT MLX ARID4B SIN3A BRCA1 YY1 SLC30A9 GTF3C2

Genomic Location for ABHD3 Gene

Chromosome:
18
Start:
21,650,897 bp from pter
End:
21,704,805 bp from pter
Size:
53,909 bases
Orientation:
Minus strand

Genomic View for ABHD3 Gene

Genes around ABHD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD3 Gene

Proteins for ABHD3 Gene

  • Protein details for ABHD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU67-ABHD3_HUMAN
    Recommended name:
    Phospholipase ABHD3
    Protein Accession:
    Q8WU67
    Secondary Accessions:
    • B0YIV0
    • B7Z5C2
    • O43411

    Protein attributes for ABHD3 Gene

    Size:
    409 amino acids
    Molecular mass:
    46009 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC19155.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABHD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD3 Gene

Selected DME Specific Peptides for ABHD3 Gene

Q8WU67:
  • LLPGLTG
  • NTEDLETV
  • GGHIGFLEG
  • VVFNNRG

Post-translational modifications for ABHD3 Gene

  • Ubiquitination at Lys 288 and Lys 332
  • Modification sites at PhosphoSitePlus

Domains & Families for ABHD3 Gene

Gene Families for ABHD3 Gene

Protein Domains for ABHD3 Gene

Suggested Antigen Peptide Sequences for ABHD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WU67

UniProtKB/Swiss-Prot:

ABHD3_HUMAN :
  • Contains 1 AB hydrolase-1 (Alpha/Beta hydrolase fold 1) domain.
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
Domain:
  • Contains 1 AB hydrolase-1 (Alpha/Beta hydrolase fold 1) domain.
Family:
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
genes like me logo Genes that share domains with ABHD3: view

Function for ABHD3 Gene

Molecular function for ABHD3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylcholine + H(2)O = 2-acylglycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot Function:
Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids.

Enzyme Numbers (IUBMB) for ABHD3 Gene

Gene Ontology (GO) - Molecular Function for ABHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004623 phospholipase A2 activity IMP 21926997
GO:0008970 phosphatidylcholine 1-acylhydrolase activity TAS --
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IEA --
GO:0052739 phosphatidylserine 1-acylhydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD3: view

Phenotypes for ABHD3 Gene

genes like me logo Genes that share phenotypes with ABHD3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD3

miRNA for ABHD3 Gene

miRTarBase miRNAs that target ABHD3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD3 Gene

Localization for ABHD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD3 Gene

Membrane; Single-pass type II membrane protein.

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 ABHD3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ABHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABHD3: view

Pathways & Interactions for ABHD3 Gene

genes like me logo Genes that share pathways with ABHD3: view

Interacting Proteins for ABHD3 Gene

Gene Ontology (GO) - Biological Process for ABHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0046470 phosphatidylcholine metabolic process IMP 21926997
genes like me logo Genes that share ontologies with ABHD3: view

No data available for SIGNOR curated interactions for ABHD3 Gene

Transcripts for ABHD3 Gene

Unigene Clusters for ABHD3 Gene

Abhydrolase domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4: - -
SP5: - -
SP6:
SP7:

Relevant External Links for ABHD3 Gene

GeneLoc Exon Structure for
ABHD3
ECgene alternative splicing isoforms for
ABHD3

Expression for ABHD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABHD3 Gene

This gene is overexpressed in Heart (31.9), Placenta (20.7), Platelet (9.9), and Fetal Liver (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD3 Gene



Protein tissue co-expression partners for ABHD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABHD3 Gene:

ABHD3

SOURCE GeneReport for Unigene cluster for ABHD3 Gene:

Hs.397978
genes like me logo Genes that share expression patterns with ABHD3: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABHD3 Gene

Orthologs for ABHD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD3 35 34
  • 99.76 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABHD3 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD3 34 35
  • 91.18 (n)
cow
(Bos Taurus)
Mammalia ABHD3 34 35
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Abhd3 34
  • 87.53 (n)
mouse
(Mus musculus)
Mammalia Abhd3 34 16 35
  • 86.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD3 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD3 34 35
  • 78.33 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD3 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd3 34
  • 72.77 (n)
Str.12375 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11489 34
zebrafish
(Danio rerio)
Actinopterygii abhd3 34 35
  • 65.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hydr1 34 35
  • 48.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006819 34
  • 48.08 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y60A3A.7 34
  • 45.54 (n)
Y60A3A.7 35
  • 31 (a)
ManyToMany
C44C1.5 35
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EEB1 35
  • 22 (a)
ManyToMany
EHT1 35
  • 21 (a)
ManyToMany
-- 35
  • 19 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G50790 34
  • 46.38 (n)
rice
(Oryza sativa)
Liliopsida Os02g0649400 34
  • 46.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2629 35
  • 37 (a)
OneToMany
Species where no ortholog for ABHD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABHD3 Gene

ENSEMBL:
Gene Tree for ABHD3 (if available)
TreeFam:
Gene Tree for ABHD3 (if available)

Paralogs for ABHD3 Gene

Paralogs for ABHD3 Gene

(1) SIMAP similar genes for ABHD3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ABHD3: view

Variants for ABHD3 Gene

Sequence variations from dbSNP and Humsavar for ABHD3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs10164204 -- 21,682,868(+) TTCCT(A/G)AAGGG intron-variant, upstream-variant-2KB
rs10654274 -- 21,674,228(+) TTCTT(-/TC)TCTTT intron-variant
rs10655646 -- 21,678,629(+) AATTA(-/CCA)TTCCT intron-variant
rs10701302 -- 21,705,556(+) TAGAA(-/AG)TTTAA intron-variant, upstream-variant-2KB
rs11083254 -- 21,653,077(+) AAAAA(A/G)AAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABHD3 Gene

Variant ID Type Subtype PubMed ID
esv2716850 CNV deletion 23290073
esv29974 CNV loss 17803354
esv3641939 CNV loss 21293372
esv3641940 CNV loss 21293372
nsv1116262 CNV deletion 24896259
nsv1131361 CNV deletion 24896259

Variation tolerance for ABHD3 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD3 Gene

Disorders for ABHD3 Gene

Relevant External Links for ABHD3

Genetic Association Database (GAD)
ABHD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD3

No disorders were found for ABHD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD3 Gene

Publications for ABHD3 Gene

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3 46 64
  2. Metabolomics annotates ABHD3 as a physiologic regulator of medium- chain phospholipids. (PMID: 21926997) Long J.Z. … Cravatt B.F. (Nat. Chem. Biol. 2011) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3 64

Products for ABHD3 Gene

Sources for ABHD3 Gene

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