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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 63
  • NCIE2 3 4
  • 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 neutral lipid storage disease. Among its related pathways are Lipoprotein metabolism and Metabolism. 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

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

Genomics for ABHD5 Gene

Regulatory Elements for ABHD5 Gene

Promoters for ABHD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABHD5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABHD5 Gene

Chromosome:
3
Start:
43,690,113 bp from pter
End:
43,734,371 bp from pter
Size:
44,259 bases
Orientation:
Plus strand

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

Proteomics data for ABHD5 Gene at MOPED

Selected DME Specific Peptides for ABHD5 Gene

Post-translational modifications for ABHD5 Gene

  • Ubiquitination at Lys 283
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD5 Gene

Antibody Products

Domains & Families for ABHD5 Gene

Gene Families for ABHD5 Gene

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

Gene Ontology (GO) - Molecular Function for ABHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IBA --
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

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
Jensen Localization Image for ABHD5 Gene COMPARTMENTS Subcellular localization image for ABHD5 gene
Compartment Confidence
cytosol 5
nucleus 5
peroxisome 2
plasma membrane 2
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0006629 lipid metabolic process IEA --
GO:0010898 positive regulation of triglyceride catabolic process IEA,IDA 16679289
GO:0019433 triglyceride catabolic process TAS --
GO:0030154 cell differentiation IEA --
GO:0051006 positive regulation of lipoprotein lipase activity 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 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:

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 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, MOPED, and MaxQB for ABHD5 Gene



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).
genes like me logo Genes that share expression patterns with ABHD5: view

Primer Products

In Situ Assay Products

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 35
  • 99.81 (n)
  • 99.43 (a)
ABHD5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD5 36
  • 95 (a)
OneToOne
ABHD5 35
  • 92.15 (n)
  • 95.11 (a)
dog
(Canis familiaris)
Mammalia LOC485570 35
  • 94.75 (n)
  • 97.99 (a)
ABHD5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd5 16
Abhd5 36
  • 94 (a)
OneToOne
Abhd5 35
  • 87.51 (n)
  • 94.81 (a)
oppossum
(Monodelphis domestica)
Mammalia ABHD5 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD5 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd5 35
  • 86.55 (n)
  • 94.52 (a)
chicken
(Gallus gallus)
Aves ABHD5 36
  • 79 (a)
OneToOne
ABHD5 35
  • 77.91 (n)
  • 80.52 (a)
lizard
(Anolis carolinensis)
Reptilia ABHD5 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd5 35
  • 75.28 (n)
  • 76.88 (a)
zebrafish
(Danio rerio)
Actinopterygii abhd5a 36
  • 65 (a)
OneToMany
abhd5b 36
  • 51 (a)
OneToMany
abhd5a 35
  • 65.88 (n)
  • 67.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1882 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_C25A1.12 35
  • 51.08 (n)
  • 39.63 (a)
C37H5.2 36
  • 36 (a)
ManyToMany
C37H5.3 36
  • 30 (a)
ManyToMany
lid-1 36
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CLD1 36
  • 18 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1234 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
Species with no ortholog for ABHD5:
  • 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 Sequence Context AA Info Type
rs740838 -- 43,722,823(-) ATCTT(G/T)GCTCT downstream-variant-500B
rs887472 -- 43,718,570(-) ACTAT(A/C)TCAGT nc-transcript-variant, utr-variant-3-prime
rs758728 -- 43,722,679(-) ATATT(A/C)CATTA nc-transcript-variant, utr-variant-3-prime
rs758729 -- 43,722,484(-) TTGCC(A/G)TCCTT nc-transcript-variant, utr-variant-3-prime
rs2109406 -- 43,704,335(-) ACCAG(A/C)GGGTG intron-variant

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

Variant ID Type Subtype PubMed ID
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)

Relevant External Links for ABHD5 Gene

HapMap Linkage Disequilibrium report
ABHD5
Human Gene Mutation Database (HGMD)
ABHD5

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

Disorders for ABHD5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ABHD5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chanarin-dorfman syndrome
  • cds
neutral lipid storage disease
  • chanarin-dorfman syndrome
lipid storage disease
  • inborn lipid storage disorder
palmoplantar keratoderma and woolly hair
  • ppkwh
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:17495960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABHD5

Genetic Association Database (GAD)
ABHD5
Human Genome Epidemiology (HuGE) Navigator
ABHD5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD5
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) Lefevre C. … Fischer J. (Am. J. Hum. Genet. 2001) 2 3 4 23 67
  2. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. (PMID: 20307695) Emre S. … Karaduman A. (Eur J Med Genet 2010) 3 23
  3. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. (PMID: 19061969) Yamaguchi T. … Osumi T. (Biochim. Biophys. Acta 2009) 3 23
  4. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (PMID: 19401457) Schweiger M. … Zechner R. (Am. J. Physiol. Endocrinol. Metab. 2009) 3 23
  5. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. (PMID: 18606822) Ghosh A.K. … Rajasekharan R. (J. Biol. Chem. 2008) 2 3

Products for ABHD5 Gene

Sources for ABHD5 Gene

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