ABHD11

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]

ABHD11
Identifiers
Aliases	ABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDs	MGI: 1916008; HomoloGene: 5961; GeneCards: ABHD11; OMA:ABHD11 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 73,736,094 bp[1] End 73,738,852 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 135,038,006 bp[2] End 135,041,029 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon right lobe of thyroid gland left lobe of thyroid gland right uterine tube olfactory zone of nasal mucosa body of pancreas rectum pancreatic ductal cell minor salivary glands epithelium of bronchus Top expressed in interventricular septum nasal septum medial head of gastrocnemius muscle soleus muscle quadriceps femoris muscle lacrimal gland tibialis anterior muscle sternocleidomastoid muscle vastus lateralis muscle proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hydrolase activity molecular function Cellular component cellular component mitochondrion Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83451 68758 Ensembl ENSG00000106077 ENSMUSG00000040532 UniProt Q8NFV4 Q8K4F5 RefSeq (mRNA) NM_001145363 NM_001145364 NM_001301058 NM_148912 NM_148913 NM_148914 NM_148916 NM_001321383 NM_001190437 NM_145215 RefSeq (protein) NP_001138836 NP_001287987 NP_001308311 NP_001308312 NP_683710 NP_683711 NP_001177366 NP_660250 Location (UCSC) Chr 7: 73.74 – 73.74 Mb Chr 5: 135.04 – 135.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000106077 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040532 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. S2CID 29964959.
6. "Entrez Gene: ABHD11 abhydrolase domain containing 11".

External links

• Human ABHD11 genome location and ABHD11 gene details page in the UCSC Genome Browser.

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. Bibcode:2004PNAS..10115724W. 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.