ABHD11
| Abhydrolase domain containing 11 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | ABHD11 ; WBSCR21 | ||||||||||||
| External IDs | MGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11 Gene | ||||||||||||
| EC number | 3.-.-.- | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 83451 | 68758 | |||||||||||
| Ensembl | ENSG00000106077 | ENSMUSG00000040532 | |||||||||||
| UniProt | Q8NFV4 | Q8K4F5 | |||||||||||
| RefSeq (mRNA) | NM_001145363 | NM_001190437 | |||||||||||
| RefSeq (protein) | NP_001138836 | NP_001177366 | |||||||||||
| Location (UCSC) | Chr 7: 73.15 – 73.15 Mb | Chr 5: 135.01 – 135.01 Mb | |||||||||||
| PubMed search | |||||||||||||
Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene.[1][2]
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.[2]
References
- ↑ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013.
- ↑ 2.0 2.1 "Entrez Gene: ABHD11 abhydrolase domain containing 11".
Further reading
- Mehrle A, Rosenfelder H, Schupp I et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Wan D, Gong Y, Qin W et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
- Wiemann S, Arlt D, Huber W et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.