Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ABHD11 Gene

protein-coding   GIFtS: 50
GCID: GC07M073150

abhydrolase domain containing 11

(Previous name: Williams Beuren syndrome chromosome region 21 )
(Previous symbol: WBSCR21)
 Explore 5 diseases affiliated with
ABHD11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABHD11    

Aliases
for ABHD11 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Abhydrolase Domain Containing 111 2     Williams-Beuren Syndrome Chromosomal Region 21 Protein2 3
WBSCR211 2 3     PP12261
Williams Beuren Syndrome Chromosome Region 211 2     EC 3.-.-.-3
Abhydrolase Domain-Containing Protein 112 3     

External Ids:    HGNC: 164071   Entrez Gene: 834512   Ensembl: ENSG000001060777   UniProtKB: Q8NFV43   
ORGUL members:         
NONCODE:n407456 n407454    

Export aliases for ABHD11 gene to outside databases

Previous GC identifers: GC07M072597 GC07M072788 GC07M069033


Summaries
for ABHD11 gene

(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 ABHD11:
This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome,
a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced
transcript variants have been described, but their biological validity has not been determined. (provided by RefSeq,
Jul 2008)

Gene Wiki entry for ABHD11


Genomic Views
for ABHD11 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABHD11 gene promoter:
         E2F-4   E2F-3a   E2F-1   E2F   E2F-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABHD11 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABHD11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD11


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

ABHD11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD11 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M073150:  view genomic region     (about GC identifiers)

Start:
 73,150,424 bp from pter      End:
 73,153,197 bp from pter
Size:
 2,774 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,483,496-72,486,262     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for ABHD11

Proteins
for ABHD11 gene

(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: ABHDB_HUMAN, Q8NFV4 (See protein sequence)
Recommended Name: Alpha/beta hydrolase domain-containing protein 11  
Size: 315 amino acids; 34690 Da
Caution: It is uncertain whether Met-1 or Met-10 is the initiator
Sequence caution: Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=AAS07472.1;
Type=Erroneous gene model prediction;
Secondary accessions: Q6PJU0 Q8N722 Q8N723 Q8NFV2 Q8NFV3 Q9HBS8
Alternative splicing: 5 isoforms:  Q8NFV4-1   Q8NFV4-2   Q8NFV4-3   Q8NFV4-4   Q8NFV4-5   

Explore the universe of human proteins at neXtProt for ABHD11: NX_Q8NFV4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NFV4

    • ABHD11 Protein expression data from MOPED and PaxDb:    About this image 
    ABHD11 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_683710.1  NP_683711.1  NP_001138836.1  

    ENSEMBL proteins: 
     ENSP00000416970   ENSP00000392945   ENSP00000222800   ENSP00000397666   ENSP00000387908  
     ENSP00000378579   ENSP00000410536   ENSP00000430937  

    Human Recombinant Protein Products for ABHD11: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ABHD11
    OriGene Protein Over-expression Lysate (see all 2): ABHD11
    OriGene Custom Protein Services for ABHD11 
    GenScript Custom Purified and Recombinant Proteins Services for ABHD11
    Novus Biologicals ABHD11 Protein
    Novus Biologicals ABHD11 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABHD11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion IEA--

    ABHD11 for ontologies           About GeneDecksing



    ABHD11 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ABHD11 
    GenScript Custom Superior Antibodies Services for ABHD11
    Novus Biologicals ABHD11 Antibodies
    Abcam antibodies for ABHD11 
    Uscn Antibodies for ABHD11
    ThermoFisher Antibodies for ABHD11

    Assay Products for ABHD11: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABHD11
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ABHD11

    Protein Domains /
    Families
    for ABHD11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABHD11 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000073 AB_hydrolase_1

    Graphical View of Domain Structure for InterPro Entry Q8NFV4

    ProtoNet protein and cluster: Q8NFV4

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


    UniProtKB/Swiss-Prot: ABHDB_HUMAN, Q8NFV4
    Similarity: Belongs to the AB hydrolase superfamily


    Function
    for ABHD11 gene

    (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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016787hydrolase activity IEA--
         
    ABHD11 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ABHD11:
     Increased gamma-H2AX phosphory  Increased viability after born 

         1 MGI phenotypic allele for Abhd11 (no phenotypes)

    ABHD11 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ABHD11 

    miRNA
    Products:            		miRTarBase miRNAs that target ABHD11:
    hsa-mir-1 (MIRT001394)

    OriGene 3'-UTR Clone (see all 5): ABHD11
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABHD11
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD11:
    hsa-miR-511 hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmid: ABHD11 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD11 (see all 4)
    OriGene shRNA RFP: ABHD11
    OriGene siRNA: ABHD11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABHD11
    Sirion Biotech Custom design and validation of potent shRNA sequences against ABHD11 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ABHD11
    Sirion Biotech Customized adenovirus for overexpression of ABHD11 
    Sirion Biotech Customized adenovirus for potent knockdown of ABHD11

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD11 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD11 (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): ABHD11 (NM_148913)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABHD11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABHD11 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for ABHD11
    Search LifeMap BioReagents cell lines for ABHD11
    Sirion Biotech Customized stable knockdown cell line services for ABHD11 
    Sirion Biotech Customized inducible knockdown cell line services for ABHD11
    Sirion Biotech Customized stable overexpressing cell line services for ABHD11
    Sirion Biotech Customized inducible overexpressing cell line services for ABHD11

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD11


    Pathways & Interactions
    for ABHD11 gene

    (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 ABHD11

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/6 Interacting proteins for ABHD11 (Q8NFV43 ENSP000002228004) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FNBP1LQ5T0N53I2D: score=5 
    CNBPP626333I2D: score=1 
    RPL7P181243I2D: score=1 
    RPSAP088653I2D: score=1 
    SRPRP082403I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    ABHD11 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABHD11 gene

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABHD11
    Search CenterWatch for drugs/clinical trials and news about ABHD11 / ABHDB 

    Transcripts
    for ABHD11 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 ABHD11 gene (6 alternative transcripts): 
    NM_148912.2  NM_148913.2  NM_001145363.1  NM_148914.2  NM_148916.3  NM_001145364.1  

    Unigene Cluster for ABHD11:

    Abhydrolase domain containing 11
    Hs.647045  [show with all ESTs]
    Unigene Representative Sequence: NR_026912
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000497897 ENST00000437775 ENST00000357419 ENST00000222800(uc003tza.3 uc003tzb.3 uc011kfb.2 uc003tzc.3)
    ENST00000458339 ENST00000412965 ENST00000395147 ENST00000437891 ENST00000486114
    ENST00000462381 ENST00000474130 ENST00000468331 ENST00000480445(uc003tzf.3)
    ENST00000468998

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 5): ABHD11
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABHD11
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD11:
    hsa-miR-511 hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmid: ABHD11 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD11 (see all 4)
    OriGene shRNA RFP: ABHD11
    OriGene siRNA: ABHD11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABHD11
    Sirion Biotech Custom design and validation of potent shRNA sequences against ABHD11 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD11 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD11 (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): ABHD11 (NM_148913)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABHD11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABHD11 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABHD11
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABHD11
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD11
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD11

    Additional cDNA sequence: 

    AF217971.1 AF412030.1 AF412032.1 AY053499.1 AY053500.1 BC008251.1 BC011712.2 BC067750.1 
    NR_026910.1 NR_026912.1 

    14 DOTS entries:

    DT.87016623  DT.100028292  DT.95083930  DT.121098562  DT.100028297  DT.100782601  DT.100028294  DT.121098552 
    DT.121098551  DT.91776441  DT.121098679  DT.428346  DT.86996991  DT.97771862 

    24/150 AceView cDNA sequences (see all 150):

    CD637526 AA492467 BM821861 BC008251 BM557977 BU857354 AF217971 AI199027 
    AI247190 AI401767 BM757754 BM772989 BM562833 BM759679 AA470671 CA407557 
    BU930946 AI628190 CD675635 BM758552 BM838976 BM758531 AW009566 BM789735 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD11 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8
    SP1:                                -                       -     -     -                       -           -                           
    SP2:                                -                       -     -     -                       -     -     -                           
    SP3:                                -                       -           -                                                               
    SP4:                                -                       -     -     -                       -     -                                 
    SP5:                                                                                            -           -                 -         


    ECgene alternative splicing isoforms for ABHD11

    Expression
    for ABHD11 gene

    (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

    ABHD11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    ABHD11 Expression
    About this image

    ABHD11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABHD11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD11

    SOURCE GeneReport for Unigene cluster: Hs.647045

    UniProtKB/Swiss-Prot: ABHDB_HUMAN, Q8NFV4
    Tissue specificity: Ubiquitously expressed

        SABiosciences Custom PCR Arrays for ABHD11
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABHD11
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABHD11
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD11
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD11
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD11

    Orthologs
    for ABHD11 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ABHD11 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Abhd111 , 5 abhydrolase domain containing 111, 5 76.61(n)1
    70.82(a)1    		   5 (74.94 cM)5
    687581  NM_145215.21  NP_660250.11 
     1350091525 
    chicken
    (Gallus gallus)    		 Aves ABHD111 abhydrolase domain containing 11 59.95(n)
    52.88(a)    		   417473  XM_415721.3  XP_415721.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ABHD116
    		 --
    		 48(a)
    		 1 ↔ 1
    		 GL344618.1(18693-21053)
    zebrafish
    (Danio rerio)    		 Actinopterygii abhd111 abhydrolase domain containing 11 59.19(n)
    52.85(a)    		   446169  NM_001004290.2  NP_001004290.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG20591 CG2059 46.18(n)
    37.4(a)    		   31663  NM_001201624.1  NP_001188553.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea R05D7.41 Protein R05D7.4 48.16(n)
    41.73(a)    		   173096  NM_060676.4  NP_493077.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes IMO32(YGR031W)4
    IMO321    		 Conserved mitochondrial protein of unknown function; more4
    Imo32p1    		 45.98(n)1
    37.93(a)1    		   7(546441-547469)4
    8529191, 4  NP_011545.11, 4 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ybfF6
    		 acyl-CoA esterase in vitro
    		 33(a)
    		 1 ↔ 1
    		 Chromosome(711261-712025)


    ENSEMBL Gene Tree for ABHD11 (if available)
    TreeFam Gene Tree for ABHD11 (if available) 

    Paralogs
    for ABHD11 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for ABHD11 gene

    (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

    10/114 NCBI SNPs in ABHD11 are shown (see all 114)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1843220751,2
    		--73150023(+) ACAGGA/GTCCGA 6 -- int1 ds50010--------
    rs1497884701,2
    		--73150039(+) AGCTA-/CTCTCTC 6 -- int1 ds50010--------
    rs1431457221,2
    		--73150094(+) TGCAAA/GGCCAG 6 -- nc-transcript-variantds5001 int10--------
    rs1173030911,2
    		F--73150159(+) GAGGCG/AGGAGC 6 -- nc-transcript-variantint1 ds50011Minor allele frequency- A:0.02EA 120
    rs1893080701,2
    		--73150208(+) GGAGGC/TGTGGG 6 -- int1 ds50010--------
    rs1482682131,2
    		--73150482(+) AACCTC/TGTGCC 6 -- ds5001 nc-transcript-variantut310--------
    rs10597791,2
    		C,F,O,H--73150511(-) CACAGA/GAGGAC 6 -- ds5001 ut31 nc-transcript-variantese323Minor allele frequency- G:0.14MN NS EA NA WA EU 3101
    rs11369541,2
    		C,F,H--73150694(-) TACTCG/TGGAGG 6 -- ds5001 ut31 nc-transcript-variant8Minor allele frequency- T:0.31NA WA CSA 16
    rs1462788841,2
    		--73150727(+) ACCACA/GCCAGG 6 -- ds5001 ut31 nc-transcript-variant0--------
    rs2017301501,2
    		--73150851(+) AGGCAC/TGAGCC 5 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ABHD11 (73150424 - 73153197 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ABHD11: --

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABHD11
    DNA2.0 Custom Variant and Variant Library Synthesis for ABHD11

    Disorders / Diseases
    for ABHD11 gene

    (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
    ABHD11 for disorders           About GeneDecksing

    UniProtKB/Swiss-Prot: ABHDB_HUMAN, Q8NFV4
  • Note=ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous
    • deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between
    highly homologous low-copy repeat sequences flanking the deleted region

    5 diseases for ABHD11:    About MalaCards
    williams-beuren syndrome    williams syndrome    lung adenocarcinoma    adenocarcinoma
    malaria

    Human Genome Epidemiology (HuGE) Navigator: ABHD11 (1 document)

    Export disorders for ABHD11 gene to outside databases

    Publications
    for ABHD11 gene

    (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 ABHD11 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ABHD11)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G....Reymond A. (2002)
    2. 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)
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Activity-based proteomics: identification of ABHD11 a nd ESD activities as potential biomarkers for human lung adenocarcinoma. (PubMed id 21596165)1 Wiedl T....Weder W. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. Distinct class of putative 'non-conserved' promoters in humans: comparative studies of alternative promoters of human and mouse genes. (PubMed id 17567985)1 Tsuritani K....Suzuki Y. (2007)

    External Searches for ABHD11 gene

    (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)

    Genome Databases showing ABHD11 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83451 HGNC: 16407 AceView: WBSCR21 Ensembl:ENSG00000106077 euGenes: HUgn83451
    ECgene: ABHD11 H-InvDB: ABHD11

    Other Databases showing ABHD11 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABHD11 gene

    (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 ABHD11 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ABHD11 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ABHD11 gene:
    Search GeneIP for patents involving ABHD11

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



    Products
    for ABHD11 gene

    (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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for ABHD11  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD11   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABHD11  
     OriGene Protein Over-expression Lysate for ABHD11   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ABHD11   OriGene 3'-UTR Clone for ABHD11  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD11   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD11  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for ABHD11   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ABHD11   OriGene Custom Protein Services for ABHD11  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABHD11
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABHD11
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD11
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABHD11
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD11
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD11
     GenScript Custom Purified and Recombinant Proteins Services for ABHD11 GenScript cDNA clones with any tag delivered in your preferred vector for ABHD11
     GenScript Custom Assay Services for ABHD11 GenScript Custom Superior Antibodies Services for ABHD11
     GenScript Custom overexpressing Cell Line Services for ABHD11 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ABHD11 promoter
     Search Chromatin IP Primers for ABHD11
     RT2 qPCR Primer Assay in human, mouse, rat ABHD11
     Search GNC Networks for ABHD11
     SABiosciences Custom PCR Arrays for ABHD11
     Search Tocris compounds for ABHD11
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ABHD11 antibodies
     ABHD11 proteins
     ABHD11 lysates
     Antibodies for ABHD11
     See all of Abcam's Antibodies, Kits and Proteins for ABHD11
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     ABHD11 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ABHD11
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD11
     SwitchGear 3'UTR luciferase reporter plasmids for ABHD11
     SwitchGear Promoter luciferase reporter plasmids for ABHD11
     ThermoFisher Antibodies for ABHD11
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABHD11
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ABHD11
    Sirion Biotech Customized:
     stable knockdown cell line services for ABHD11
     inducible knockdown cell line services for ABHD11
     design and validation of potent shRNA sequences against ABHD11
     adenovirus for potent knockdown of ABHD11
     adenovirus for overexpression of ABHD11
     stable overexpressing cell line services for ABHD11
     inducible overexpressing cell line services for ABHD11
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

    View Random Gene

    Category
    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 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      ABHD11 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4