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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
  • 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 and hydrolase activity, acting on ester bonds.

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

Chromosome:
7
Start:
73,736,094 bp from pter
End:
73,738,885 bp from pter
Size:
2,792 bases
Orientation:
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:
    Q8NFV4-ABHDB_HUMAN
    Recommended name:
    Alpha/beta hydrolase domain-containing protein 11
    Protein Accession:
    Q8NFV4
    Secondary Accessions:
    • H7BYM8
    • Q6PJU0
    • Q8N722
    • Q8N723
    • Q8NFV2
    • Q8NFV3
    • Q9HBS8

    Protein attributes for ABHD11 Gene

    Size:
    315 amino acids
    Molecular mass:
    34690 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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 Lys 87
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ABHD11 Gene

Domains & Families for ABHD11 Gene

Gene Families for ABHD11 Gene

Suggested Antigen Peptide Sequences for ABHD11 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NFV4

UniProtKB/Swiss-Prot:

ABHDB_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • 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:0052689 carboxylic ester hydrolase activity IBA --
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 Targets and HOMER Transcription for ABHD11 Gene

Localization for ABHD11 Gene

Gene Ontology (GO) - Cellular Components for ABHD11 Gene

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

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

Pathways & Interactions 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: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 and SIGNOR curated interactions for ABHD11 Gene

Drugs & Compounds for ABHD11 Gene

No Compound Related Data Available

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

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
ABHD11
ECgene alternative splicing isoforms for
ABHD11

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 (x4.1).

Protein differential expression in normal tissues from HIPED for ABHD11 Gene

This gene is overexpressed in Salivary gland (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q8NFV4-ABHDB_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with ABHD11: view

Protein tissue co-expression partners for ABHD11 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia ABHD11 35
  • 81.35 (n)
  • 76.82 (a)
ABHD11 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD11 35
  • 84.49 (n)
  • 84.16 (a)
ABHD11 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd11 35
  • 76.61 (n)
  • 70.82 (a)
Abhd11 16
Abhd11 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABHD11 35
  • 99.89 (n)
  • 100 (a)
ABHD11 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd11 35
  • 76.07 (n)
  • 70.16 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD11 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD11 35
  • 61.07 (n)
  • 54.58 (a)
ABHD11 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD11 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd11 35
  • 55.81 (n)
  • 52.65 (a)
zebrafish
(Danio rerio)
Actinopterygii abhd11 35
  • 59.19 (n)
  • 52.85 (a)
abhd11 36
  • 46 (a)
OneToOne
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)
OneToMany
CG2059 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05D7.4 35
  • 48.61 (n)
  • 42.63 (a)
F32B4.6 36
  • 27 (a)
OneToMany
R05D7.4 36
  • 34 (a)
OneToMany
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)
OneToOne
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)
OneToOne
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

ENSEMBL:
Gene Tree for ABHD11 (if available)
TreeFam:
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
rs2293484 -- 73,736,890(-) TTACT(C/G/T)GCCCA intron-variant
rs6460052 -- 73,737,314(+) GCCAC(A/G)TAGGT intron-variant, synonymous-codon, reference, nc-transcript-variant, downstream-variant-500B
rs7782126 -- 73,739,744(+) TTAAC(A/T)ttttt upstream-variant-2KB
rs10232827 -- 73,740,687(+) TTCAG(A/G)CTGGT upstream-variant-2KB
rs10279013 -- 73,737,559(+) CGGCT(C/T)ACCCT intron-variant, nc-transcript-variant, utr-variant-3-prime

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

Variation tolerance for ABHD11 Gene

Residual Variation Intolerance Score: 20.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD11 Gene

HapMap Linkage Disequilibrium report
ABHD11

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

Disorders for ABHD11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD11 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association

UniProtKB/Swiss-Prot

ABHDB_HUMAN
  • 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)
ABHD11
Human Genome Epidemiology (HuGE) Navigator
ABHD11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD11
genes like me logo Genes that share disorders with ABHD11: view

No data available for 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. A systems wide mass spectrometric based linear motif screen to identify dominant in-vivo interacting proteins for the ubiquitin ligase MDM2. (PMID: 24583282) Nicholson J. … Hupp T.R. (Cell. Signal. 2014) 67

Products for ABHD11 Gene

Sources for ABHD11 Gene

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