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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 56
  • 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. Gene Ontology (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.

Additional gene information for ABHD3 Gene

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

Genomics for ABHD3 Gene

GeneHancer (GH) Regulatory Elements for ABHD3 Gene

Promoters and enhancers for ABHD3 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
GH18I021701 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.9 +1.4 1377 4.3 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 ZNF213 ZNF143 SP3 ABHD3 LOC105376866 MIB1 ESCO1 SNRPD1 MIR320C1
GH18I021598 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.5 +104.1 104062 4.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 ESCO1 GC18P021602 MIR320C1 MIB1 ENSG00000199977 ABHD3 SNRPD1 GC18P021594 GC18M021596
GH18I021995 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.1 -294.7 -294657 7.8 PKNOX1 FOXA2 ZSCAN4 ARID4B MZF1 DMAP1 ZNF2 THRB ZNF48 RAD21 ESCO1 ABHD3 ENSG00000265656 LINC01900 GC18P021970 RNU7-17P
GH18I021684 Enhancer 1.2 Ensembl ENCODE 8.6 +18.6 18615 3.3 PKNOX1 ATF1 FOXA2 ARNT ARID4B DMAP1 TCF12 ZNF766 GATA2 ATF7 ESCO1 MIB1 ABHD3 MIR320C1
GH18I021241 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 4.9 +462.5 462476 2.3 ZNF76 ZNF48 RAD21 YY1 ZNF335 GLIS2 KLF13 EGR2 SMARCA5 SMARCC1 GREB1L LOC101927496 MIB1 ABHD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD3 gene promoter:

Genomic Locations for ABHD3 Gene

Genomic Locations for ABHD3 Gene
chr18:21,650,897-21,704,805
(GRCh38/hg38)
Size:
53,909 bases
Orientation:
Minus strand
chr18:19,230,858-19,284,766
(GRCh37/hg19)

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 Lys288 and Lys332
  • Modification sites at PhosphoSitePlus

Domains & Families for ABHD3 Gene

Gene Families for ABHD3 Gene

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

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 :
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
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

Phenotypes From GWAS Catalog 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 IMP,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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

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

Drugs & Compounds for ABHD3 Gene

No Compound Related Data Available

Transcripts for ABHD3 Gene

Unigene Clusters for ABHD3 Gene

Abhydrolase domain containing 3:
Representative Sequences:

Clone 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 CGAP 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, PaxDb, 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

Evidence on tissue expression from TISSUES for ABHD3 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ABHD3: 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 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 33 34
  • 99.76 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD3 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD3 33 34
  • 91.18 (n)
cow
(Bos Taurus)
Mammalia ABHD3 33 34
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Abhd3 33
  • 87.53 (n)
mouse
(Mus musculus)
Mammalia Abhd3 33 16 34
  • 86.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD3 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD3 33 34
  • 78.33 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD3 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd3 33
  • 72.77 (n)
Str.12375 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11489 33
zebrafish
(Danio rerio)
Actinopterygii abhd3 33 34
  • 65.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hydr1 33 34
  • 48.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006819 33
  • 48.08 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y60A3A.7 33
  • 45.54 (n)
Y60A3A.7 34
  • 31 (a)
ManyToMany
C44C1.5 34
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EEB1 34
  • 22 (a)
ManyToMany
EHT1 34
  • 21 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G50790 33
  • 46.38 (n)
rice
(Oryza sativa)
Liliopsida Os02g0649400 33
  • 46.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2629 34
  • 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 Variation AA Info Type
rs1000084240 -- 21,683,242(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000108612 -- 21,706,088(-) T/C upstream_transcript_variant
rs1000118013 -- 21,701,657(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000304486 -- 21,654,553(-) A/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000359877 -- 21,693,754(-) CCC/C genic_upstream_transcript_variant, 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)

Additional Variant Information for ABHD3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABHD3 Gene

Additional Disease Information for 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 … EUROSPAN consortium (PLoS genetics 2012) 3 44 58
  2. Metabolomics annotates ABHD3 as a physiologic regulator of medium-chain phospholipids. (PMID: 21926997) Long JZ … Cravatt BF (Nature chemical biology 2011) 3 4 58
  3. 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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for ABHD3 Gene

Sources for ABHD3 Gene

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