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Aliases for ABHD5 Gene

Aliases for ABHD5 Gene

  • Abhydrolase Domain Containing 5 2 3 5
  • Abhydrolase Domain-Containing Protein 5 3 4
  • Lipid Droplet-Binding Protein CGI-58 3 4
  • EC 2.3.1.51 4 56
  • NCIE2 3 4
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase ABHD5 3
  • Truncated Abhydrolase Domain-Containing Protein 5 3
  • CGI58 3
  • IECN2 3
  • CDS 3

External Ids for ABHD5 Gene

Previous GeneCards Identifiers for ABHD5 Gene

  • GC03P043551
  • GC03P043693
  • GC03P043692

Summaries for ABHD5 Gene

Entrez Gene Summary for ABHD5 Gene

  • The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABHD5 Gene

ABHD5 (Abhydrolase Domain Containing 5) is a Protein Coding gene. Diseases associated with ABHD5 include Chanarin-Dorfman Syndrome and Lipid Storage Disease. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include peptidase activity and 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is ABHD4.

UniProtKB/Swiss-Prot for ABHD5 Gene

  • Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity).

Gene Wiki entry for ABHD5 Gene

Additional gene information for ABHD5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD5 Gene

Genomics for ABHD5 Gene

GeneHancer (GH) Regulatory Elements for ABHD5 Gene

Promoters and enhancers for ABHD5 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
GH03I043689 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 555.7 +4.3 4306 10.4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ABHD5 ZNF35 ZNF852 ZNF660 ENSG00000261786 ANO10 PIR40588 GC03M043165
GH03I043387 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.6 -300.2 -300154 4.4 HDAC1 FOXA2 RAD21 ZBTB40 YY1 ETV6 ATF7 RXRA ZBTB11 CEBPB SNRK ABHD5 SNRK-AS1 ENSG00000271941 ANO10 ENSG00000251811 GC03M043165
GH03I043255 Enhancer 0.9 FANTOM5 Ensembl 18.7 -433.5 -433475 1.7 FOXA3 HLF CEBPB CEBPG RARA ZNF395 ATF4 CTBP1 CEBPA ATF7 SNRK ABHD5 SNRK-AS1 CCDC13 LOC105377052 GC03P043190 GC03M043165
GH03I043392 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -296.1 -296077 2.5 RXRA JUN ETV1 MAX REST MYC RAD21 NR2F2 SNRK SNRK-AS1 ABHD5 ANO10 ENSG00000251811 GC03M043165
GH03I043316 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.8 -372.3 -372276 2.3 ELF3 FOXA2 DNMT3B RAD21 RARA YY1 CREM MIXL1 RXRA SP5 SNRK-AS1 SNRK ABHD5 RN7SL517P ENSG00000271941 GC03M043165
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD5 gene promoter:

Genomic Locations for ABHD5 Gene

Genomic Locations for ABHD5 Gene
chr3:43,690,113-43,734,371
(GRCh38/hg38)
Size:
44,259 bases
Orientation:
Plus strand
chr3:43,731,605-43,775,863
(GRCh37/hg19)

Genomic View for ABHD5 Gene

Genes around ABHD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD5 Gene

Proteins for ABHD5 Gene

  • Protein details for ABHD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTS1-ABHD5_HUMAN
    Recommended name:
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5
    Protein Accession:
    Q8WTS1
    Secondary Accessions:
    • B2R9K0
    • Q9Y369

    Protein attributes for ABHD5 Gene

    Size:
    349 amino acids
    Molecular mass:
    39096 Da
    Quaternary structure:
    • Interacts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 (By similarity).

neXtProt entry for ABHD5 Gene

Selected DME Specific Peptides for ABHD5 Gene

Q8WTS1:
  • HLILVEPWGFPERPDLADQ
  • PDIPVSVI

Post-translational modifications for ABHD5 Gene

  • Ubiquitination at posLast=283283
  • Modification sites at PhosphoSitePlus

Domains & Families for ABHD5 Gene

Gene Families for ABHD5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q8WTS1

UniProtKB/Swiss-Prot:

ABHD5_HUMAN :
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
  • Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
Domain:
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
Family:
  • Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
genes like me logo Genes that share domains with ABHD5: view

Function for ABHD5 Gene

Molecular function for ABHD5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.
UniProtKB/Swiss-Prot Function:
Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated upon keratinocyte differentiation (at protein level).

Enzyme Numbers (IUBMB) for ABHD5 Gene

Phenotypes From GWAS Catalog for ABHD5 Gene

Gene Ontology (GO) - Molecular Function for ABHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity IEA --
GO:0004806 NOT triglyceride lipase activity ISS --
GO:0008233 peptidase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with ABHD5: view
genes like me logo Genes that share phenotypes with ABHD5: view

Human Phenotype Ontology for ABHD5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABHD5 Gene

MGI Knock Outs for ABHD5:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ABHD5 Gene

Localization for ABHD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD5 Gene

Cytoplasm. Lipid droplet. Note=Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA (By similarity). {ECO:0000250}.

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 ABHD5 gene
Compartment Confidence
cytosol 5
plasma membrane 2
peroxisome 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005811 lipid droplet ISS --
GO:0005829 cytosol IEA,ISS --
genes like me logo Genes that share ontologies with ABHD5: view

Pathways & Interactions for ABHD5 Gene

genes like me logo Genes that share pathways with ABHD5: view

Gene Ontology (GO) - Biological Process for ABHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process IDA 18606822
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with ABHD5: view

No data available for SIGNOR curated interactions for ABHD5 Gene

Drugs & Compounds for ABHD5 Gene

(1) Drugs for ABHD5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Investigational Nutra 0

(2) Additional Compounds for ABHD5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABHD5: view

Transcripts for ABHD5 Gene

Unigene Clusters for ABHD5 Gene

Abhydrolase domain containing 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: -
SP3: - - - -
SP4: -
SP5: - -

Relevant External Links for ABHD5 Gene

GeneLoc Exon Structure for
ABHD5
ECgene alternative splicing isoforms for
ABHD5

Expression for ABHD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD5 Gene

mRNA differential expression in normal tissues according to GTEx for ABHD5 Gene

This gene is overexpressed in Whole Blood (x10.7).

Protein differential expression in normal tissues from HIPED for ABHD5 Gene

This gene is overexpressed in Adipocyte (44.7), Nasopharynx (8.7), and Bone (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABHD5 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABHD5 Gene:

ABHD5

SOURCE GeneReport for Unigene cluster for ABHD5 Gene:

Hs.19385

mRNA Expression by UniProt/SwissProt for ABHD5 Gene:

Q8WTS1-ABHD5_HUMAN
Tissue specificity: Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level).

Evidence on tissue expression from TISSUES for ABHD5 Gene

  • Nervous system(4.6)
  • Skin(4.5)
  • Liver(2.5)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • outer ear
Thorax:
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ABHD5: view

No data available for Protein tissue co-expression partners for ABHD5 Gene

Orthologs for ABHD5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABHD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD5 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia ABHD5 34
  • 98 (a)
OneToOne
LOC485570 33
  • 94.75 (n)
cow
(Bos Taurus)
Mammalia ABHD5 33 34
  • 92.15 (n)
mouse
(Mus musculus)
Mammalia Abhd5 33 16 34
  • 87.51 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD5 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd5 33
  • 86.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD5 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD5 33 34
  • 77.91 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD5 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd5 33
  • 75.28 (n)
zebrafish
(Danio rerio)
Actinopterygii abhd5a 33 34
  • 65.88 (n)
abhd5b 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1882 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_C25A1.12 33
  • 51.08 (n)
C37H5.2 34
  • 36 (a)
ManyToMany
lid-1 34
  • 35 (a)
ManyToMany
C37H5.3 34
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CLD1 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
ManyToMany
-- 34
  • 43 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1234 33
Species where no ortholog for ABHD5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 (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)

Evolution for ABHD5 Gene

ENSEMBL:
Gene Tree for ABHD5 (if available)
TreeFam:
Gene Tree for ABHD5 (if available)

Paralogs for ABHD5 Gene

Paralogs for ABHD5 Gene

(1) SIMAP similar genes for ABHD5 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with ABHD5: view

Variants for ABHD5 Gene

Sequence variations from dbSNP and Humsavar for ABHD5 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1013764487 uncertain-significance, Triglyceride storage disease with ichthyosis 43,719,797(+) A/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1019583326 uncertain-significance, Triglyceride storage disease with ichthyosis 43,720,427(+) C/A 3_prime_UTR_variant, non_coding_transcript_variant
rs10433548 likely-benign, Triglyceride storage disease with ichthyosis 43,721,785(+) A/T 3_prime_UTR_variant, non_coding_transcript_variant
rs10433606 likely-benign, Triglyceride storage disease with ichthyosis 43,721,467(+) C/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1046324794 uncertain-significance, Triglyceride storage disease with ichthyosis 43,690,902(+) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ABHD5 Gene

Variant ID Type Subtype PubMed ID
esv3400265 CNV insertion 20981092
nsv834673 CNV gain 17160897

Variation tolerance for ABHD5 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD5 Gene

Human Gene Mutation Database (HGMD)
ABHD5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD5 Gene

Disorders for ABHD5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ABHD5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chanarin-dorfman syndrome
  • cds
lipid storage disease
  • inborn lipid storage disorder
ichthyosis
  • ichthyoses
congenital ichthyosiform erythroderma
  • alligator skin
- elite association - COSMIC cancer census association via MalaCards
Search ABHD5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABHD5_HUMAN
  • Chanarin-Dorfman syndrome (CDS) [MIM:275630]: An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma. {ECO:0000269 PubMed:11590543, ECO:0000269 PubMed:16679289, ECO:0000269 PubMed:17495960, ECO:0000269 PubMed:18606822}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ABHD5

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 ABHD5: view

No data available for Genatlas for ABHD5 Gene

Publications for ABHD5 Gene

  1. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. (PMID: 11590543) Lefèvre C … Fischer J (American journal of human genetics 2001) 2 3 4 22 58
  2. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. (PMID: 18606822) Ghosh AK … Rajasekharan R (The Journal of biological chemistry 2008) 2 3 4 58
  3. CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. (PMID: 18832586) Akiyama M … Shimizu H (The American journal of pathology 2008) 3 4 22 58
  4. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (PMID: 15967942) Schleinitz N … Pelissier JF (Archives of dermatology 2005) 3 4 22 58
  5. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. (PMID: 20307695) Emre S … Karaduman A (European journal of medical genetics 2010) 3 22 58

Products for ABHD5 Gene

Sources for ABHD5 Gene

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