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

ABHD8 Gene

protein-coding   GIFtS: 43
GCID: GC19M017402

abhydrolase domain containing 8

 Explore 1 disease affiliated with
ABHD8 via our new
 Human Malady Compendium 
Biological research products
for ABHD8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 81 2
FLJ117431
MGC142801
MGC25121
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABHD8:
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)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABHD8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
17,414,282 bp from pter
Size:
11,343 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96I13

  • ABHD8 Protein expression data from MOPED and PaxDb:    About this image 
    ABHD8 Protein Expression
    REFSEQ proteins: NP_078803.4  
    ENSEMBL proteins: 
     ENSP00000247706  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ABHD8 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


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

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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

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


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABHD8

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ABHD8
    Search CenterWatch for drugs/clinical trials and news about ABHD8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000247706(uc002ngb.4)

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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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    Clone
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    Additional cDNA 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 

    24/96 AceView cDNA sequences (see all 96):

    BQ636471 BC039087 AW190173 BC011536 BM054879 BI966157 CR603220 AA325517 
    BU149876 CR618792 BI821859 CF529063 CF529869 AI125846 BM690291 BC007895 
    BE514016 CK299694 BM729370 BI966228 BX332216 BM927155 BE778238 BI829436 

    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™, 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

    ABHD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGATGCTGG
    ABHD8 Expression
    About this image
    See ABHD8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD8

    SOURCE GeneReport for Unigene cluster: Hs.515664
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ABHD8 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abhd81 , 5 abhydrolase domain containing 81, 5 81.84(n)1
    91.27(a)1
      8 (34.43 cM)5
    642961  NM_022419.31  NP_071864.21 
     714567005 
    chicken
    (Gallus gallus)
    Aves LOC1008575801 abhydrolase domain-containing protein 8-like 76.65(n)
    77.05(a)
      100857580  XM_003643395.1  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 abhd81 abhydrolase domain containing 8 67.46(n)
    71.26(a)
      558563  XM_681794.6  XP_686886.5 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    16(a)
    1 ↔ 1
    Group2.20(697314-703626)


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/242 NCBI SNPs in ABHD8 are shown (see all 242    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
    --17403009(+) CCCAT-/CCCCCC 1 -- ut310--------
    rs2013478411,2
    C--17403009(+) CCCCAC/TCCCCC 1 -- ut310--------
    rs1381653111,2
    --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--17403361(+) CGCCCA/GCCGGA 1 -- ut31 ese34Minor allele frequency- G:0.22NA WA 126
    rs1136347681,2
    C--17403414(+) AGGCTC/GGGGCC 1 -- ut312Minor allele frequency- G:0.09NA 122

    HapMap Linkage Disequilibrium report for ABHD8 (17402940 - 17414282 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ABHD8
         2 CNVs: 50091 30071

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ABHD8 for disorders           About GeneDecksing

    1 disease for ABHD8:    About MalaCards
    breast cancer


    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)
    About This Section

    PubMed articles for ABHD8 gene integrated from 9 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2002)
    4. A locus on 19p13 modifies risk of breast cancer in BR CA1 mutation carriers and is associated with hormone receptor-negative breast c ancer in the general population. (PubMed id 20852631)1 Antoniou A.C....Couch F.J. (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. (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. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 79575 HGNC: 23759 AceView: ABHD8 Ensembl:ENSG00000127220 euGenes: HUgn79575
    ECgene: ABHD8 H-InvDB: ABHD8

    (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 ABHD8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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     ABHD8 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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