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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lipid storage disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   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 Chromatin IP Primers for ABHD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys283
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ABHD5 (Q8WTS1)
     PDIPVSVI  HLILVEPWGFPERPDLADQ 


    See ABHD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057090.2  
    ENSEMBL proteins: 
     ENSP00000391582   ENSP00000390849   ENSP00000013894   ENSP00000412014   ENSP00000392159  
    Reactome Protein details: Q8WTS1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 4 alleles(MGI details for Abhd5):
     cardiovascular system  cellular  growth/size/body  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: Let us create your new Knockout/Knockin mouse model for ABHD5
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    Block miRNA regulation of human, mouse, rat ABHD5 using miScript Target Protectors
    Selected qRT-PCR 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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABHD5_HUMAN, Q8WTS1: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005811lipid particle ISS--
    GO:0005829cytosol ISS--
    GO:0043231intracellular membrane-bounded organelle IDA--

    ABHD5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ABHD5 About    
    See pathways by source

    SuperPathContained pathways About
    1triacylglycerol biosynthesis
    triacylglycerol biosynthesis0.48
    CDP-diacylglycerol biosynthesis I0.00
    phosphatidylglycerol biosynthesis II (non-plastidic)0.48
    2Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.59
    Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for ABHD5
        Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis



    ABHD5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABHD5
    Interactions:

        GeneGlobe Interaction Network for ABHD5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for ABHD5 (Q8WTS12, 3 ENSP000003908494) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLIN2Q995413, ENSP000002769144I2D: score=1 STRING: ENSP00000276914
    PLIN1O602403, ENSP000003000554I2D: score=2 STRING: ENSP00000300055
    PRKACGENSP000003664884STRING: ENSP00000366488
    AGPAT6ENSP000003801844STRING: ENSP00000380184
    AGPAT9ENSP000002644094STRING: ENSP00000264409
    About this table

    Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    ABHD5 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR 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
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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 

    Selected AceView cDNA sequences (see all 214):

    BU674647 AI148474 N71441 BP378912 F09359 AI672617 AW008181 AI399957 
    AA732530 H95556 AF007132 BM971083 BE466740 BU622105 BU632112 BM712057 
    F13266 BM713908 BU186331 BC021958 AI990788 F10866 AA995475 AA366090 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABHD5 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Esophagus (Gastrointestinal Tract)
    ABHD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABHD5 Protein Expression

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

    Orthologs for ABHD5 gene from Selected species (see all 16)    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 ABHD51 abhydrolase domain containing 5 77.91(n)
    80.52(a)
      420673  NM_001278145.1  NP_001265074.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABHD56
    abhydrolase domain containing 5
    72(a)
    1 ↔ 1
    1(192888494-192917950)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia abhd51 abhydrolase domain containing 5 75.28(n)
    76.88(a)
      549643  NM_001016889.2  NP_001016889.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abhd5a1 abhydrolase domain containing 5a 65.88(n)
    67.16(a)
      566493  XM_003200133.2  XP_003200181.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18826
    --
    35(a)
    1 → many
    2R(3700011-3702250)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C25A1.121 CELE_C25A1.12 51.08(n)
    39.63(a)
      172888  NM_060284.3  NP_492685.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CLD16
    Mitochondrial cardiolipin-specific phospholipase; ...
    18(a)
    1 → many
    VII(713709-715046) YGR110W


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABHD5 (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
    ----------
    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--------
    VAR_0579544
    Chanarin-Dorfman syndrome (CDS)4--see VAR_0579542 S G mis40--------
    rs1048936751,2
    Cpathogenic143671515(+) TATATC/GACACC 2 S * stg10--------
    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--------
    rs76230071,2
    C,F,A--43661465(+) aaaacC/Aacctt 1 -- us2k1 tfbs38Minor allele frequency- A:0.44NA CSA WA EA 368

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABHD5
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 17 diseases for ABHD5:    
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    neutral lipid storage disease    lipid storage disease    vesiculitis    n syndrome
    ectropion    systemic primary carnitine deficiency disease    congenital ichthyosiform erythroderma    liver cirrhosis
    cataract    myopathy    obesity    multiple myeloma
    myeloma    cerebritis    hepatitis    neuronitis
    endotheliitis

    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)
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    PubMed articles for ABHD5 gene, integrated from 10 sources (see all 46):
    (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. (Am. J. Hum. Genet. 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. (J. Biol. Chem. 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. (Am. J. Pathol. 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. (Arch. Dermatol. 2005)
    5. High frequency of ETFDH c.250G&gt;A mutation in Taiwanese patients with late-onset lipid storage myopathy. (PubMed id 20370797)1, 4 Lan M.Y....Chen S.S. (Clin. Genet. 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. (J. Invest. Dermatol. 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. (Cell Metab. 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. (Genome Res. 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.-C. (Genome Res. 2000)
    10. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (PubMed id 19401457)1, 9 Schweiger M....Zechner R. (Am. J. Physiol. Endocrinol. Metab. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 51099 HGNC: 21396 AceView: ABHD5 Ensembl:ENSG00000011198 euGenes: HUgn51099
    ECgene: ABHD5 H-InvDB: ABHD5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABHD5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABHD5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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