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ABHD8 Gene

protein-coding   GIFtS: 42
GCID: GC19M017402

Abhydrolase Domain Containing 8

  See related disease
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 81 2
Abhydrolase Domain-Containing Protein 82
EC 3.-.-.-3

External Ids:    HGNC: 237591   Entrez Gene: 795752   Ensembl: ENSG000001272207   UniProtKB: Q96I133   

Export aliases for ABHD8 gene to outside databases

Previous GC identifers: GC19M017263 GC19M016969


(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 ABHD8 Gene:
This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein
L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ABHD8 Gene:
ABHD8 (abhydrolase domain containing 8) is a protein-coding gene. Diseases associated with ABHD8 include breast cancer. GO annotations related to this gene include hydrolase activity.




(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_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABHD8 gene promoter:
         HFH-3   C/EBPbeta   AP-1   MAZR   p53   POU6F1 (c2)   E47   GATA-1   FOXI1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD8 promoter sequence
   Search Chromatin IP Primers for ABHD8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABHD8


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.12

ABHD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M017402:  view genomic region     (about GC identifiers)

Start:
17,402,940 bp from pter      End:
17,421,045 bp from pter
Size:
18,106 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABHD8_HUMAN, Q96I13 (See protein sequence)
Recommended Name: Abhydrolase domain-containing protein 8  
Size: 439 amino acids; 47331 Da
Secondary accessions: Q9HAE9

Explore the universe of human proteins at neXtProt for ABHD8: NX_Q96I13

Explore proteomics data for ABHD8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ABHD8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078803.4  
    ENSEMBL proteins: 
     ENSP00000247706   ENSP00000468883   ENSP00000470413  

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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

    2 InterPro protein domains:
     IPR000073 AB_hydrolase_1
     IPR000639 Epox_hydrolase-like

    Graphical View of Domain Structure for InterPro Entry Q96I13

    ProtoNet protein and cluster: Q96I13

    3 Blocks protein domains:
    IPB000073 Alpha/beta hydrolase fold
    IPB000639 Epoxide hydrolase signature
    IPB003089 Alpha/beta hydrolase fold signature


    UniProtKB/Swiss-Prot: ABHD8_HUMAN, Q96I13
    Similarity: Belongs to the AB hydrolase superfamily


    ABHD8 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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         Enzyme Number (IUBMB): EC 3.-.-.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
         
    ABHD8 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidABHD8 3' UTR sequence
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    plasma membrane2
    extracellular1
    mitochondrion1
    nucleus1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABHD8
    Interactions:

        Search GeneGlobe Interaction Network for ABHD8

    (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
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    Browse Tocris compounds for ABHD8



    (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,
    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 ABHD8 gene: 
    NM_024527.4  

    Unigene Cluster for ABHD8:

    Abhydrolase domain containing 8
    Hs.515664  [show with all ESTs]
    Unigene Representative Sequence: NM_024527
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247706(uc002ngb.4) ENST00000593489 ENST00000594194
    miRNA
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    hsa-miR-576-3p hsa-miR-657 hsa-miR-143* hsa-miR-219-5p hsa-miR-624 hsa-miR-7 hsa-miR-3182
    SwitchGear 3'UTR luciferase reporter plasmidABHD8 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK021805.1 AK225140.1 AK225340.1 AK298251.1 AK315366.1 BC007895.2 BC011536.2 BC020173.1 
    BC039087.1 EU285559.1 

    7 DOTS entries:

    DT.304564  DT.100775366  DT.121465020  DT.91922602  DT.95078030  DT.91725794  DT.99997985 

    Selected AceView cDNA sequences (see all 96):

    CF529063 BC011536 AA325517 BI821859 AI125846 CR618792 CR603220 BM054879 
    BC039087 BI966157 CF529869 BU149876 AW190173 BQ636471 BM690291 BM729370 
    AW661762 H19549 BI825847 CF456589 BI763036 AU119308 AL528882 BE269644 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD8    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                                                      
    SP2:                                                      
    SP3:              -                                       


    ECgene alternative splicing isoforms for ABHD8

    (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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    ABHD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATGCTGG
    ABHD8 Expression
    About this image

    ABHD8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABHD8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515664
        Custom PCR Arrays for ABHD8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD8

    (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 chordates.

    Orthologs for ABHD8 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abhd81 , 5 abhydrolase domain containing 81, 5 82.11(n)1
    91.18(a)1
      8 (34.43 cM)5
    642961  NM_022419.31  NP_071864.21 
     714567005 
    chicken
    (Gallus gallus)
    Aves ABHD81 abhydrolase domain containing 8 76.4(n)
    76.89(a)
      100857580  XM_003643395.2  XP_003643443.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.55632 Transcribed sequence with strong similarity to protein more 77.28(n)    BQ525266.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abhd8a1 abhydrolase domain containing 8a 67.63(n)
    71.39(a)
      558563  XM_681794.7  XP_686886.5 


    ENSEMBL Gene Tree for ABHD8 (if available)
    TreeFam Gene Tree for ABHD8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 ABHD8 (see all 306)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1892779921,2
    --17402526(+) GATCCC/TCCCAC 1 -- ds50010--------
    rs1402521421,2
    --17402716(+) CCGGGA/GTCACC 1 -- ds50010--------
    rs1503794761,2
    --17402789(+) CGAGGA/GGAAAT 1 -- ds50010--------
    rs1808258721,2
    --17402995(+) GGTGGC/TGCCAG 1 -- ut310--------
    rs1454589351,2
    C--17403009(+) CCCAT-/CCCCCC 1 -- ut310--------
    rs2013478411,2
    C--17403009(+) CCCCAC/TCCCCC 1 -- ut310--------
    rs1381653111,2
    C--17403016(+) CCCCCC/TCCTTG 1 -- ut310--------
    rs48086161,2
    C,F,H--17403033(+) AATAGC/ATCCCA 1 -- ut3115Minor allele frequency- A:0.21NS NA WA 1834
    rs115408551,2
    C,F--17403361(+) CGCCCA/GCCGGA 1 -- ut31 ese34Minor allele frequency- G:0.22NA WA 126
    rs1136347681,2
    C,F--17403414(+) AGGCTC/GGGGCC 1 -- ut312Minor allele frequency- G:0.09NA 122

    HapMap Linkage Disequilibrium report for ABHD8 (17402940 - 17421045 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABHD8 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1009781CNV Deletion20482838
    dgv3760n71CNV Loss21882294
    nsv911182CNV Loss21882294
    nsv911198CNV Loss21882294
    nsv515965CNV Loss19592680
    nsv911185CNV Loss21882294
    nsv911200CNV Loss21882294
    nsv470129CNV Loss18288195
    dgv3758n71CNV Loss21882294
    dgv3759n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for ABHD8:    
    About MalaCards
    breast cancer


    ABHD8 for disorders           About GeneDecksing


    Export disorders for ABHD8 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 ABHD8 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ABHD8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. (PubMed id 20852631)1 Antoniou A.C....Couch F.J. (Nat. Genet. 2010)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 79575 HGNC: 23759 AceView: ABHD8 Ensembl:ENSG00000127220 euGenes: HUgn79575
    ECgene: ABHD8 H-InvDB: ABHD8

    (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 ABHD8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABHD8 gene:
    Search GeneIP for patents involving ABHD8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Custom PCR Arrays for ABHD8 Search Chromatin IP Primers for ABHD8
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABHD8
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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