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Aliases for ABHD11 Gene

Aliases for ABHD11 Gene

  • Abhydrolase Domain Containing 11 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 11 3 4
  • Williams Beuren Syndrome Chromosome Region 21 2 3
  • Abhydrolase Domain-Containing Protein 11 3 4
  • WBSCR21 3 4
  • Williams-Beuren Syndrome Chromosomal Region 21 Protein 4
  • Protein ABHD11 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. [provided by RefSeq, Mar 2016]

GeneCards Summary for ABHD11 Gene

ABHD11 (Abhydrolase Domain Containing 11) is a Protein Coding gene. Diseases associated with ABHD11 include Williams-Beuren Syndrome. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on ester bonds.

Gene Wiki entry for ABHD11 Gene

Additional gene information for ABHD11 Gene

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

Genomics for ABHD11 Gene

GeneHancer (GH) Regulatory Elements for ABHD11 Gene

Promoters and enhancers for ABHD11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J073736 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.7 -1.8 -1840 7.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 ABHD11 GC07P073741 GC07P073742 METTL27 STAG3L3 POM121B ABHD11-AS1 POM121 NSUN5P2 MIR590
GH07J073734 Enhancer 1.2 Ensembl ENCODE 50.5 +3.6 3631 1.9 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 POLR2B E2F8 ZNF143 DEK ABHD11-AS1 ABHD11 METTL27 PIR39049
GH07J073841 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 5.6 -103.4 -103386 1.9 HDGF PKNOX1 FOXA2 ARID4B DMAP1 ZNF48 ZNF335 POLR2B EGR1 SCRT2 METTL27 VPS37D ABHD11 GC07P073835
GH07J073825 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 4.6 -91.1 -91052 8.4 HDGF PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 CLDN4 METTL27 BUD23 STAG3L3 POM121B POM121 TMEM270 NSUN5P2 DNAJC30 NSUN5
GH07J073885 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.8 -147.8 -147818 1.9 PKNOX1 SMAD1 ARNT ZNF766 E2F8 REST MEF2D SMARCA4 NBN NR2C1 POM121B STAG3L3 NSUN5P2 TBL2 MIR590 METTL27 NSUN5 RFC2 PMS2P7 FKBP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD11 gene promoter:
  • NF-kappaB1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4

Genomic Locations for ABHD11 Gene

Genomic Locations for ABHD11 Gene
chr7:73,736,094-73,738,885
(GRCh38/hg38)
Size:
2,792 bases
Orientation:
Minus strand
chr7:73,150,424-73,153,197
(GRCh37/hg19)
Size:
2,774 bases
Orientation:
Minus strand

Genomic View for ABHD11 Gene

Genes around ABHD11 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for ABHD11 Gene

  • Ubiquitination at posLast=8787
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD11 Gene

Domains & Families for ABHD11 Gene

Gene Families for ABHD11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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:0016787 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

  • Taconic Biosciences Mouse Models for ABHD11

miRNA for ABHD11 Gene

miRTarBase miRNAs that target ABHD11

Clone Products

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD11 Gene

Localization for ABHD11 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD11 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

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,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 & Interactions for ABHD11 Gene

SuperPathways for ABHD11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ABHD11 Gene



Protein tissue co-expression partners for ABHD11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABHD11 Gene:

ABHD11

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.

Evidence on tissue expression from TISSUES for ABHD11 Gene

  • Eye(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ABHD11: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD11 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia ABHD11 34 33
  • 99.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD11 34 33
  • 84.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD11 34 33
  • 81.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd11 16 34 33
  • 76.61 (n)
rat
(Rattus norvegicus)
Mammalia Abhd11 33
  • 76.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD11 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABHD11 34 33
  • 61.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD11 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd11 33
  • 55.81 (n)
zebrafish
(Danio rerio)
Actinopterygii abhd11 34 33
  • 59.19 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009289 33
  • 50.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2059 34 33
  • 45.47 (n)
OneToMany
CG14717 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05D7.4 34 33
  • 48.61 (n)
OneToMany
F32B4.6 34
  • 27 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL180C 33
  • 48.18 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05863g 33
  • 47.11 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMO32 36 34 33
  • 45.98 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01454 33
  • 46.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22H12.03 33
  • 41.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for ABHD11 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD11: view image

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 Variation AA Info Type
rs1000744587 -- 73,737,854(-) G/A intron_variant
rs1000817951 -- 73,736,609(-) C/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1002860930 -- 73,740,308(-) C/A upstream_transcript_variant
rs1002916512 -- 73,740,167(-) G/A upstream_transcript_variant
rs1003669079 -- 73,736,362(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2761337 CNV loss 21179565
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for ABHD11 Gene

Residual Variation Intolerance Score: 20.8% 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)

Additional Variant Information for ABHD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • wbs
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ABHD11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human genetics 2002) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for ABHD11 Gene

Sources for ABHD11 Gene

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