Homo sapiens Gene: ABHD11
Summary
InnateDB Gene IDBG-20342.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABHD11
Gene Name abhydrolase domain containing 11
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000106077
Encoded Proteins
abhydrolase domain containing 11
abhydrolase domain containing 11
abhydrolase domain containing 11
abhydrolase domain containing 11
abhydrolase domain containing 11
abhydrolase domain containing 11
abhydrolase domain containing 11
abhydrolase domain containing 11
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 7:73736094-73738867
Strand Reverse strand
Band q11.23
Transcripts
ENST00000222800 ENSP00000222800
ENST00000357419 ENSP00000392945
ENST00000395147 ENSP00000378579
ENST00000437775 ENSP00000416970
ENST00000458339 ENSP00000397666
ENST00000412965 ENSP00000387908
ENST00000437891 ENSP00000410536
ENST00000497897
ENST00000486114
ENST00000462381
ENST00000474130 ENSP00000430937
ENST00000468331
ENST00000480445
ENST00000468998
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0016787 hydrolase activity
GO:0016788 hydrolase activity, acting on ester bonds
Biological Process
GO:0006505 GPI anchor metabolic process
GO:0006629 lipid metabolic process
GO:0006886 intracellular protein transport
GO:0008150 biological_process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
Cellular Component
GO:0005575 cellular_component
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL H0YC52
UniProt Splice Variant
Entrez Gene 83451
UniGene Hs.647045
RefSeq NM_001145364 NM_001301058 NM_148912 NM_148913 XM_006716145
HUGO HGNC:16407
OMIM
CCDS CCDS47607 CCDS47608 CCDS5558 CCDS75615
HPRD 15658
IMGT
EMBL AC073846
GenPept
RNA Seq Atlas 83451