ABHD11

ABHD11
Identifiers
AliasesABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDsMGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q11.23Start73,736,094 bp[1]
End73,738,867 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

83451

68758

Ensembl

ENSG00000106077

ENSMUSG00000040532

UniProt

Q8NFV4

Q8K4F5

RefSeq (mRNA)

NM_001190437
NM_145215

RefSeq (protein)

NP_001177366
NP_660250

Location (UCSC)Chr 7: 73.74 – 73.74 MbChr 5: 135.01 – 135.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000106077 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040532 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. 1 2 "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.


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