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Aliases for ABHD11 Gene

Aliases for ABHD11 Gene

  • Abhydrolase Domain Containing 11 2 3
  • Williams-Beuren Syndrome Chromosomal Region 21 Protein 3 4
  • Williams Beuren Syndrome Chromosome Region 21 2 3
  • Abhydrolase Domain-Containing Protein 11 3 4
  • WBSCR21 3 4
  • Alpha/Beta Hydrolase Domain-Containing Protein 11 3
  • EC 3.-.-.- 4
  • PP1226 3

External Ids for ABHD11 Gene

Previous HGNC Symbols for ABHD11 Gene

  • WBSCR21

Previous GeneCards Identifiers for ABHD11 Gene

  • GC07M072597
  • GC07M072788
  • GC07M073150
  • GC07M069033

Summaries for ABHD11 Gene

Entrez Gene Summary for ABHD11 Gene

  • 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]

GeneCards Summary for ABHD11 Gene

ABHD11 (Abhydrolase Domain Containing 11) is a Protein Coding gene. Diseases associated with ABHD11 include williams-beuren syndrome. GO annotations related to this gene include hydrolase activity.

Gene Wiki entry for ABHD11 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD11 Gene

Genomics for ABHD11 Gene

Regulatory Elements for ABHD11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABHD11 Gene

73,736,094 bp from pter
73,738,867 bp from pter
2,774 bases
Minus strand

Genomic View for ABHD11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABHD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD11 Gene

Proteins for ABHD11 Gene

  • Protein details for ABHD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha/beta hydrolase domain-containing protein 11
    Protein Accession:
    Secondary Accessions:
    • H7BYM8
    • Q6PJU0
    • Q8N722
    • Q8N723
    • Q8NFV2
    • Q8NFV3
    • Q9HBS8

    Protein attributes for ABHD11 Gene

    315 amino acids
    Molecular mass:
    34690 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAS07472.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ABHD11 Gene

neXtProt entry for ABHD11 Gene

Proteomics data for ABHD11 Gene at MOPED

Post-translational modifications for ABHD11 Gene

  • Ubiquitination at Lys87
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ABHD11 Gene

Domains for ABHD11 Gene

Gene Families for ABHD11 Gene

  • ABHD :Abhydrolase domain containing

Suggested Antigen Peptide Sequences for ABHD11 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q8NFV4
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD11: view

Function for ABHD11 Gene

Enzyme Numbers (IUBMB) for ABHD11 Gene

Gene Ontology (GO) - Molecular Function for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds --
genes like me logo Genes that share ontologies with ABHD11: view
genes like me logo Genes that share phenotypes with ABHD11: view

Animal Model Products

miRNA for ABHD11 Gene

miRTarBase miRNAs that target ABHD11

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABHD11

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABHD11 Gene

Localization for ABHD11 Gene

Subcellular locations from

Jensen Localization Image for ABHD11 Gene COMPARTMENTS Subcellular localization image for ABHD11 gene
Compartment Confidence
mitochondrion 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ABHD11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD11 Gene

Pathways for ABHD11 Gene

SuperPathways for ABHD11 Gene

No Data Available

Interacting Proteins for ABHD11 Gene

Gene Ontology (GO) - Biological Process for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006505 GPI anchor metabolic process --
GO:0006629 lipid metabolic process --
GO:0006886 intracellular protein transport --
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABHD11: view

No data available for Pathways by source for ABHD11 Gene

Transcripts for ABHD11 Gene

Unigene Clusters for ABHD11 Gene

Abhydrolase domain containing 11:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABHD11

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD11 Gene

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: - - -
SP6: - -
SP7: - - - - -
SP8: - - - -
SP9: -
SP10: - - - - - -
SP11: -
SP12: -

Relevant External Links for ABHD11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABHD11 Gene

mRNA expression in normal human tissues for ABHD11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABHD11 Gene

This gene is overexpressed in Colon - Transverse (4.1).

Protein differential expression in normal tissues for ABHD11 Gene

This gene is overexpressed in Salivary gland (27.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABHD11 Gene

SOURCE GeneReport for Unigene cluster for ABHD11 Gene Hs.647045

mRNA Expression by UniProt/SwissProt for ABHD11 Gene

Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with ABHD11: view

Expression partners for ABHD11 Gene

In Situ Assay Products

Orthologs for ABHD11 Gene

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

Orthologs for ABHD11 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ABHD11 35
  • 81.35 (n)
  • 76.82 (a)
ABHD11 36
  • 77 (a)
(Canis familiaris)
Mammalia ABHD11 35
  • 84.49 (n)
  • 84.16 (a)
ABHD11 36
  • 83 (a)
(Mus musculus)
Mammalia Abhd11 35
  • 76.61 (n)
  • 70.82 (a)
Abhd11 16
Abhd11 36
  • 70 (a)
(Pan troglodytes)
Mammalia ABHD11 35
  • 99.89 (n)
  • 100 (a)
ABHD11 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Abhd11 35
  • 76.07 (n)
  • 70.16 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
-- 36
  • 54 (a)
-- 36
  • 61 (a)
(Ornithorhynchus anatinus)
Mammalia ABHD11 36
  • 64 (a)
(Gallus gallus)
Aves ABHD11 35
  • 61.07 (n)
  • 54.58 (a)
ABHD11 36
  • 50 (a)
(Anolis carolinensis)
Reptilia ABHD11 36
  • 48 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd11 35
  • 55.81 (n)
  • 52.65 (a)
(Danio rerio)
Actinopterygii abhd11 35
  • 59.19 (n)
  • 52.85 (a)
abhd11 36
  • 46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009289 35
  • 50.31 (n)
  • 43.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2059 35
  • 45.47 (n)
  • 37.16 (a)
CG14717 36
  • 28 (a)
CG2059 36
  • 33 (a)
(Caenorhabditis elegans)
Secernentea R05D7.4 35
  • 48.61 (n)
  • 42.63 (a)
F32B4.6 36
  • 27 (a)
R05D7.4 36
  • 34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL180C 35
  • 48.18 (n)
  • 37.5 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05863g 35
  • 47.11 (n)
  • 36.78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMO32 35
  • 45.98 (n)
  • 37.93 (a)
IMO32 36
  • 29 (a)
IMO32 38
bread mold
(Neurospora crassa)
Ascomycetes NCU01454 35
  • 46.92 (n)
  • 38.63 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22H12.03 35
  • 41.06 (n)
  • 33.98 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
Species with no ortholog for ABHD11:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABHD11 Gene

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

Paralogs for ABHD11 Gene

No data available for Paralogs for ABHD11 Gene

Variants for ABHD11 Gene

Sequence variations from dbSNP and Humsavar for ABHD11 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1064718 -- 73,736,684(-) CCAGC(C/T)ACCAC reference, missense, nc-transcript-variant
rs2293484 -- 73,736,890(-) TTACT(C/G)GCCCA intron-variant
rs3215356 -- 73,736,866(-) GGACC(-/C)TACCA intron-variant
rs3763433 -- 73,738,269(-) CCTGA(A/G/T)AGGAG intron-variant, upstream-variant-2KB
rs3812318 -- 73,738,898(+) GCCCC(G/T)CCCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ABHD11 Gene

Variant ID Type Subtype PubMed ID
dgv7325n71 CNV Loss 21882294
nsv831028 CNV Loss 17160897
nsv469841 CNV Complex 16826518
nsv888371 CNV Loss 21882294

Relevant External Links for ABHD11 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD11 Gene

Disorders for ABHD11 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ABHD11 Gene in MalaCards »

(1) Diseases for ABHD11 Gene including...


  • 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.

Relevant External Links for ABHD11

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ABHD11: view

No data available for OMIM , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ABHD11 Gene

Publications for ABHD11 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4

Products for ABHD11 Gene

Sources for ABHD11 Gene

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