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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABHD5 Gene

protein-coding   GIFtS: 64
GCID: GC03P043707

Abhydrolase Domain Containing 5

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 51 2     CGI582 5
NCIE22 3 5     IECN22 5
Abhydrolase Domain-Containing Protein 52 3     1-Acylglycerol-3-Phosphate O-Acyltransferase ABHD52
Lipid Droplet-Binding Protein CGI-582 3     CDS2
EC 2.3.1.513 8     

External Ids:    HGNC: 213961   Entrez Gene: 510992   Ensembl: ENSG000000111987   OMIM: 6047805   UniProtKB: Q8WTS13   

Export aliases for ABHD5 gene to outside databases

Previous GC identifers: GC03P043551 GC03P043693 GC03P043692


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neutral lipid storage disease, and vesiculitis, and among its related super-pathways are CDP-diacylglycerol biosynthesis I and Metabolic pathways. GO annotations related to this gene include lysophosphatidic acid acyltransferase activity and triglyceride lipase activity. An important paralog of this gene is ABHD4.

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1
Function: Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate
the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte
differentiation

Gene Wiki entry for ABHD5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABHD5 gene promoter:
         AML1a   Meis-1b   CREB   POU2F1   POU2F1a   deltaCREB   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD5 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABHD5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.33   HGNC cytogenetic band: 3p21.33

ABHD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD5 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P043707:  view genomic region     (about GC identifiers)

Start:
43,731,605 bp from pter      End:
43,775,863 bp from pter
Size:
44,259 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1 (See protein sequence)
Recommended Name: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5  
Size: 349 amino acids; 39096 Da
Subunit: Interacts with ADRP, PLIN and PNPLA2 (By similarity)
Subcellular location: Cytoplasm. Lipid droplet (By similarity). 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)
Developmental stage: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level)
Secondary accessions: B2R9K0 Q9Y369

Explore the universe of human proteins at neXtProt for ABHD5: NX_Q8WTS1

Explore proteomics data for ABHD5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WTS1

  • 2 DME Specific Peptides for ABHD5 (Q8WTS1)
     PDIPVSVI  HLILVEPWGFPERPDLADQ 

    ABHD5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABHD5 Protein Expression
    REFSEQ proteins: NP_057090.2  
    ENSEMBL proteins: 
     ENSP00000391582   ENSP00000390849   ENSP00000013894   ENSP00000412014   ENSP00000392159  
    Reactome Protein details: Q8WTS1
    Human Recombinant Protein Products for ABHD5: 
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    Cloud-Clone Corp. Proteins for ABHD5 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005811lipid particle ISS--
    GO:0005829cytosol ISS--

    ABHD5 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ABHD5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABHD: Abhydrolase domain containing

    1 InterPro protein domain:
     IPR000073 AB_hydrolase_1

    Graphical View of Domain Structure for InterPro Entry Q8WTS1

    ProtoNet protein and cluster: Q8WTS1

    3 Blocks protein domains:
    IPB000073 Alpha/beta hydrolase fold
    IPB002410 Prolyl aminopeptidase (S33) family signature
    IPB003089 Alpha/beta hydrolase fold signature


    UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1
    Domain: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the
    phosphate moiety of the glycerol-3-phosphate (By similarity)
    Similarity: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily


    ABHD5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABHD5_HUMAN, Q8WTS1
    Function: Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate
    the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte
    differentiation
    Catalytic activity: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate
    Induction: Up-regulated upon keratinocyte differentiation (at protein level)

         Enzyme Number (IUBMB): EC 2.3.1.511 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038411-acylglycerol-3-phosphate O-acyltransferase activity IEA--
    GO:0004806NOT triglyceride lipase activity ISS--
    GO:0005515protein binding ----
    GO:0008233peptidase activity ----
    GO:0042171lysophosphatidic acid acyltransferase activity IDA18606822
         
    ABHD5 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ABHD5:
     Decreased viability of wild-ty  Increased G1 DNA content  Synthetic lethal with Ras 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abhd5):
     cardiovascular system  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 
     skeleton 

    ABHD5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abhd5tm1.1Rze for ABHD5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABHD5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABHD5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABHD5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABHD5 

    miRNA
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    hsa-mir-124 (MIRT002698)

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    8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD5 (see all 58):
    hsa-miR-4291 hsa-miR-142-5p hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-607 hsa-miR-513a-5p hsa-miR-106a hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidABHD5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABHD5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CDP-diacylglycerol biosynthesis I
    CDP-diacylglycerol biosynthesis I0.94
    triacylglycerol biosynthesis0.50
    phosphatidylglycerol biosynthesis II (non-plastidic)0.94
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.56
    4Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
    Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ABHD5
        CDP-diacylglycerol biosynthesis I
    triacylglycerol biosynthesis
    phosphatidylglycerol biosynthesis II (non-plastidic)


    4        Reactome Pathways for ABHD5
        Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
    Lipid digestion, mobilization, and transport
    Metabolism
    Metabolism of lipids and lipoproteins



    ABHD5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABHD5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/17 Interacting proteins for ABHD5 (Q8WTS12, 3 ENSP000003908494) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLIN2Q995413, ENSP000002769144I2D: score=1 STRING: ENSP00000276914
    PLIN1O602403, ENSP000003000554I2D: score=2 STRING: ENSP00000300055
    AGPAT6ENSP000003801844STRING: ENSP00000380184
    AGPAT9ENSP000002644094STRING: ENSP00000264409
    CAV1ENSP000003391914STRING: ENSP00000339191
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006629lipid metabolic process ----
    GO:0006631fatty acid metabolic process IEA--
    GO:0006654phosphatidic acid biosynthetic process IDA18606822
    GO:0010891negative regulation of sequestering of triglyceride IDA16679289

    ABHD5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABHD5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABHD5

    2 Novoseek inferred chemical compound relationships for ABHD5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 54.2 22 20023287 (5), 18832586 (4), 14708602 (2), 16741516 (1) (see all 7)
    triacylglycerol 43.5 7 20023287 (3), 18832586 (1), 20190389 (1)

    Search CenterWatch for drugs/clinical trials and news about ABHD5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABHD5 gene: 
    NM_016006.4  

    Unigene Cluster for ABHD5:

    Abhydrolase domain containing 5
    Hs.19385  [show with all ESTs]
    Unigene Representative Sequence: NM_016006
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456453 ENST00000458276(uc003cmx.3) ENST00000486764 ENST00000013894
    ENST00000454293 ENST00000413300 ENST00000463153
    miRNA
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    8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD5 (see all 58):
    hsa-miR-4291 hsa-miR-142-5p hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-607 hsa-miR-513a-5p hsa-miR-106a hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidABHD5 3' UTR sequence
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    Additional mRNA sequence: 

    AF007132.1 AF151816.1 AK022457.1 AK313811.1 BC021958.1 

    15 DOTS entries:

    DT.452123  DT.91727096  DT.444182  DT.411898  DT.95151610  DT.100009772  DT.40257487  DT.120874844 
    DT.103965  DT.120874788  DT.120874794  DT.95110189  DT.95269879  DT.92053549  DT.92060879 

    24/214 AceView cDNA sequences (see all 214):

    AI363347 CA308310 F10866 AW117539 AI022028 T77082 AA772259 H95556 
    N71441 NM_016006 AA732530 AI742474 AA366090 BE466740 BM910501 CD627400 
    AF007132 BU186331 AW008181 BQ023594 AI148474 AA733195 F09359 F13266 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD5    About this scheme

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


    ECgene alternative splicing isoforms for ABHD5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABHD5 expression in normal human tissues (normalized intensities)      ABHD5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTCTTTAG
    ABHD5 Expression
    About this image


    ABHD5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Blood (Hematopoietic System)
             leukocytes   
     
     Oral Cavity (Gastrointestinal Tract)
             buccal mucosa   

    See ABHD5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD5

    SOURCE GeneReport for Unigene cluster: Hs.19385

    UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1
    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)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for ABHD5 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abhd51 , 5 abhydrolase domain containing 51, 5 87.51(n)1
    94.81(a)1
      9 (73.03 cM)5
    674691  NM_026179.21  NP_080455.11 
     1223516085 
    chicken
    (Gallus gallus)
    Aves ABHD56
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5...
    79(a)
    1 ↔ 1
    2(41434128-41462705)
    lizard
    (Anolis carolinensis)
    Reptilia ABHD56
    abhydrolase domain containing 5
    72(a)
    1 ↔ 1
    1(192888494-192917950)
    zebrafish
    (Danio rerio)
    Actinopterygii abhd51 abhydrolase domain containing 5 65.88(n)
    67.16(a)
      566493  XM_003200133.1  XP_003200181.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18826
    --
    35(a)
    1 → many
    2R(3700011-3702250)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C25A1.121 Protein C25A1.12 50.77(n)
    39.32(a)
      172888  NM_060284.2  NP_492685.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CLD16
    Mitochondrial cardiolipin-specific phospholipase; ...
    17(a)
    1 → many
    VII(713709-715046)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABHD5 gene
    ABHD42  
    1 SIMAP similar gene for ABHD5 using alignment to 9 protein entries:     ABHD5_HUMAN (see all proteins):
    ABHD4

    ABHD5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/690 SNPs in ABHD5 are shown (see all 690)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0579544
    Chanarin-Dorfman syndrome (CDS)4--see VAR_0579542 S G mis40--------
    rs1048936761,2,4
    CChanarin-Dorfman syndrome (CDS)4 pathogenic143663202(+) AGGAGG/AAGGTG 2 /K /E mis11Minor allele frequency- A:0.00NA 3270
    rs289390771,2,4
    CChanarin-Dorfman syndrome (CDS)4 pathogenic143674659(+) GAATCA/CGTTTG 2 Q P mis10--------
    rs289390781,2,4
    CChanarin-Dorfman syndrome (CDS)4 pathogenic143689869(+) GTGGTA/GAGACA 2 K E mis10--------
    rs1048936751,2
    Cpathogenic143671515(+) TATATC/GACACC 2 S * stg10--------
    VAR_0579534
    ----see VAR_0579532 H R mis40--------
    rs1883871831,2
    --43661144(+) TCTGGA/CAAGGC 1 -- us2k10--------
    rs1383966661,2
    --43661198(+) GCATCG/TTACAT 1 -- us2k10--------
    rs777365141,2
    C,F--43661226(+) GAGAGT/CGAGGG 1 -- us2k12Minor allele frequency- C:0.07WA 120
    rs1492332141,2
    --43661282(+) CTATTA/GCAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABHD5 (43731605 - 43775863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ABHD5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834673CNV Gain17160897


    Human Gene Mutation Database (HGMD): ABHD5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ABHD5
    DNA2.0 Custom Variant and Variant Library Synthesis for ABHD5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604780   
    OMIM disorders: 275630  
    UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for ABHD5:    About MalaCards
    neutral lipid storage disease    vesiculitis    lipid storage disease    ectropion
    congenital ichthyosiform erythroderma    n syndrome    ichthyosis    myopathy
    cataract    liver cirrhosis    obesity    hepatitis
    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for ABHD5:
    Neutral lipid storage disease     Systemic primary carnitine deficiency disease     Congenital ichthyosiform erythroderma

    ABHD5 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ABHD5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neutral lipid storage disease 98 13 14708602 (4), 15127008 (2), 18832586 (2), 20023287 (2) (see all 5)
    ichthyosis 91.2 10 14708602 (2), 18832586 (2), 16741516 (1), 20023287 (1) (see all 7)

    Genetic Association Database (GAD): ABHD5
    Human Genome Epidemiology (HuGE) Navigator: ABHD5 (2 documents)

    Export disorders for ABHD5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ABHD5 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with ABHD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. (PubMed id 11590543)1, 2, 3, 9 Lefevre C.... Fischer J. (2001)
    2. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. (PubMed id 18606822)1, 2, 3 Ghosh A.K....Rajasekharan R. (2008)
    3. CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. (PubMed id 18832586)1, 2, 9 Akiyama M.... Shimizu H. (2008)
    4. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (PubMed id 15967942)1, 2, 9 Schleinitz N....Pelissier J.F. (2005)
    5. High frequency of ETFDH c.250G>A mutation in Taiwa nese patients with late-onset lipid storage myopathy. (PubMed id 20370797)1, 4 Lan M.Y....Chen S.S. (2010)
    6. A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome. (PubMed id 17495960)1, 2 Ben Selma Z....Caux F. (2007)
    7. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. (PubMed id 16679289)1, 2 Lass A....Zechner R. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    10. Neutral lipid storage disease: genetic disorders caus ed by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (PubMed id 19401457)1, 9 Schweiger M....Zechner R. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51099 HGNC: 21396 AceView: ABHD5 Ensembl:ENSG00000011198 euGenes: HUgn51099
    ECgene: ABHD5 H-InvDB: ABHD5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABHD5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABHD5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABHD5 gene:
    Search GeneIP for patents involving ABHD5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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