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Aliases for ABHD4 Gene

Aliases for ABHD4 Gene

  • Abhydrolase Domain Containing 4 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 4 3 4
  • Lyso-N-Acylphosphatidylethanolamine Lipase 3 4
  • Abhydrolase Domain-Containing Protein 4 3 4
  • Alpha/Beta-Hydrolase 4 3 4
  • Protein ABHD4 3
  • EC 3.-.-.- 4
  • ABH4 3

External Ids for ABHD4 Gene

Previous GeneCards Identifiers for ABHD4 Gene

  • GC14P016854
  • GC14P021057
  • GC14P022136
  • GC14P023067
  • GC14P003185
  • GC14P022602
  • GC14P022684
  • GC14P022779
  • GC14P022868
  • GC14P023826
  • GC14P023919
  • GC14P024027
  • GC14P024144

Summaries for ABHD4 Gene

GeneCards Summary for ABHD4 Gene

ABHD4 (Abhydrolase Domain Containing 4) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include hydrolase activity and 1-alkyl-2-acetylglycerophosphocholine esterase activity. An important paralog of this gene is ABHD5.

UniProtKB/Swiss-Prot for ABHD4 Gene

  • Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine (By similarity).

Additional gene information for ABHD4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD4 Gene

Genomics for ABHD4 Gene

GeneHancer (GH) Regulatory Elements for ABHD4 Gene

Promoters and enhancers for ABHD4 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
GH14J022596 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 676.1 +0.2 171 3 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 FOS SP3 ABHD4 ENSG00000275552 GC14P024328 NGDN PRMT5 SLC7A8 DAD1
GH14J022976 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.3 +381.7 381669 7.6 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 AJUBA ACIN1 NGDN HAUS4 PRMT5 C14orf93 RBM23 LOC102724814 PABPN1 MMP14
GH14J022504 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 21.9 -60.0 -60049 66.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 GC14P024294 GC14P024317 TRAJ6 TRAJ7 NGDN MMP14 ACIN1 PRMT5 ABHD4 DAD1
GH14J022587 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14 -9.2 -9163 3.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B DAD1 ACIN1 PRMT5 OXA1L MMP14 HAUS4 ABHD4 C14orf93 OR6J1 SLC22A17
GH14J022472 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -109.7 -109689 32 HDGF PKNOX1 SMAD1 YBX1 IRF4 TCF12 ZNF207 ZNF143 ATF7 RUNX3 GC14P024308 GC14P024320 TRAJ48 TRAJ49 TRAJ50 TRAJ51 PRMT5-AS1 ABHD4 MRPL52 SLC7A7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD4 gene promoter:

Genomic Locations for ABHD4 Gene

Genomic Locations for ABHD4 Gene
chr14:22,598,237-22,613,215
(GRCh38/hg38)
Size:
14,979 bases
Orientation:
Plus strand
chr14:23,067,146-23,081,265
(GRCh37/hg19)

Genomic View for ABHD4 Gene

Genes around ABHD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD4 Gene

Proteins for ABHD4 Gene

  • Protein details for ABHD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB40-ABHD4_HUMAN
    Recommended name:
    Protein ABHD4
    Protein Accession:
    Q8TB40
    Secondary Accessions:
    • B4DDH7
    • Q9H9E0

    Protein attributes for ABHD4 Gene

    Size:
    342 amino acids
    Molecular mass:
    38794 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD4 Gene

Post-translational modifications for ABHD4 Gene

  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD4 Gene

Domains & Families for ABHD4 Gene

Gene Families for ABHD4 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q8TB40

UniProtKB/Swiss-Prot:

ABHD4_HUMAN :
  • Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
Family:
  • Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
genes like me logo Genes that share domains with ABHD4: view

Function for ABHD4 Gene

Molecular function for ABHD4 Gene

UniProtKB/Swiss-Prot Function:
Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine (By similarity).

Enzyme Numbers (IUBMB) for ABHD4 Gene

Phenotypes From GWAS Catalog for ABHD4 Gene

Gene Ontology (GO) - Molecular Function for ABHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity TAS --
GO:0052689 carboxylic ester hydrolase activity IBA --
genes like me logo Genes that share ontologies with ABHD4: view
genes like me logo Genes that share phenotypes with ABHD4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD4

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD4 Gene

Localization for ABHD4 Gene

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 ABHD4 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with ABHD4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD4 Gene

Pathways & Interactions for ABHD4 Gene

genes like me logo Genes that share pathways with ABHD4: view

Interacting Proteins for ABHD4 Gene

Gene Ontology (GO) - Biological Process for ABHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0036152 phosphatidylethanolamine acyl-chain remodeling TAS --
GO:0055088 lipid homeostasis IBA --
genes like me logo Genes that share ontologies with ABHD4: view

No data available for SIGNOR curated interactions for ABHD4 Gene

Drugs & Compounds for ABHD4 Gene

(1) Drugs for ABHD4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anandamide Pharma Antagonist, Pore Blocker, Partial agonist, Agonist, Potentiation, Allosteric regulator, Full agonist, Inhibitor, Channel blocker 0

(4) Additional Compounds for ABHD4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PE(P-16:0e/16:0)
  • 1-(Hexadec-1-enyl)-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-hexadecanoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • PE(P-16:0/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1W7)
  • GPEtn(34:1)
Phosphatidylethanolamines Group A
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-icosatetraenoyl)-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-(1-Enyl-stearoyl)-2-arachidonoyl-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-Alkenyl-2-acyl-glycerophosphoethanolamine
103597-60-0, 998-07-2, 923-61-5, 1069-79-0
Phosphatidylethanolamines Group B
  • Glycerophosphoethanolamine
  • Glycerophosphoethanolamine(P-16:0E/0:0)
  • PE(0:0)
  • GPEtn(0:0)
  • Phophatidylethanolamine(0:0)
genes like me logo Genes that share compounds with ABHD4: view

Transcripts for ABHD4 Gene

mRNA/cDNA for ABHD4 Gene

Unigene Clusters for ABHD4 Gene

Abhydrolase domain containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD4 Gene

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

Relevant External Links for ABHD4 Gene

GeneLoc Exon Structure for
ABHD4
ECgene alternative splicing isoforms for
ABHD4

Expression for ABHD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABHD4 Gene

This gene is overexpressed in Bone (42.2), Pancreatic juice (12.2), and Peripheral blood mononuclear cells (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD4 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABHD4 Gene:

ABHD4

SOURCE GeneReport for Unigene cluster for ABHD4 Gene:

Hs.445665

Evidence on tissue expression from TISSUES for ABHD4 Gene

  • Adrenal gland(4.2)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with ABHD4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD4 Gene

Orthologs for ABHD4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD4 34 33
  • 99.32 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD4 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd4 16 34 33
  • 90.94 (n)
cow
(Bos Taurus)
Mammalia ABHD4 34 33
  • 90.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD4 34 33
  • 90.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd4 33
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD4 34
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD4 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd4 33
  • 70.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15564 33
zebrafish
(Danio rerio)
Actinopterygii abhd4 34 33
  • 62.71 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1882 34 33
  • 56.12 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000784 33
  • 52.85 (n)
worm
(Caenorhabditis elegans)
Secernentea C37H5.3 34 33
  • 51.02 (n)
ManyToMany
C37H5.2 34
  • 38 (a)
ManyToMany
lid-1 34
  • 38 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CLD1 34
  • 18 (a)
OneToMany
ICT1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24160 33
  • 45.22 (n)
rice
(Oryza sativa)
Liliopsida Os09g0520200 33
  • 47.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
Species where no ortholog for ABHD4 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)
  • chicken (Gallus gallus)
  • 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 ABHD4 Gene

ENSEMBL:
Gene Tree for ABHD4 (if available)
TreeFam:
Gene Tree for ABHD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD4: view image

Paralogs for ABHD4 Gene

Paralogs for ABHD4 Gene

(1) SIMAP similar genes for ABHD4 Gene using alignment to 7 proteins:

  • ABHD4_HUMAN
  • B4DDH7_HUMAN
  • F5GZC9_HUMAN
  • F5H067_HUMAN
  • F5H6T0_HUMAN
  • H0YFD5_HUMAN
  • J3KMW0_HUMAN
genes like me logo Genes that share paralogs with ABHD4: view

Variants for ABHD4 Gene

Sequence variations from dbSNP and Humsavar for ABHD4 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000184763 -- 22,600,513(+) C/T intron_variant
rs1000362752 -- 22,607,530(+) G/C intron_variant
rs1000403768 -- 22,602,402(+) C/T intron_variant
rs1000652725 -- 22,597,270(+) C/A upstream_transcript_variant
rs1001284841 -- 22,600,841(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABHD4 Gene

Variant ID Type Subtype PubMed ID
esv3633758 CNV loss 21293372
esv3892469 CNV gain+loss 25118596
nsv520576 CNV loss 19592680
nsv563998 CNV gain 21841781
nsv832746 CNV gain 17160897
nsv832748 CNV gain 17160897

Variation tolerance for ABHD4 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD4 Gene

Disorders for ABHD4 Gene

Additional Disease Information for ABHD4

No disorders were found for ABHD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD4 Gene

Publications for ABHD4 Gene

  1. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. A genome wide shRNA screen identifies α/β hydrolase domain containing 4 (ABHD4) as a novel regulator of anoikis resistance. (PMID: 22488300) Simpson CD … Schimmer AD (Apoptosis : an international journal on programmed cell death 2012) 3 58
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A … Wanker EE (Science signaling 2011) 3 58
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58

Products for ABHD4 Gene