ABHD11

ABHD11
Identifiers
Aliases	ABHD11 , WBSCR21, PP1226, abhydrolase domain containing 11
External IDs	MGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,738,852 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,041,029 bp
RNA expression pattern
	Top expressed in
	kidney; ; renal cortex; ; transverse colon; ; thyroid gland; ; minor salivary gland;
	More reference expression data
	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
	83451
	68758
	ENSG00000106077
	ENSMUSG00000040532
	Q8NFV4
	Q8K4F5
NM_001145363 ; NM_001145364 ; NM_001301058 ; NM_148912 ; NM_148913 ;
	NM_148914 ; NM_148916 ; NM_001321383
	NM_001190437 ; NM_145215
NP_001138836 ; NP_001287987 ; NP_001308311 ; NP_001308312 ; NP_683710 ;
	NP_683711
	NP_001177366 ; NP_660250
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 13, 2022

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]

Related Research Articles

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.

TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.

ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene.

RING finger protein 38 is a protein that in humans is encoded by the RNF38 gene.

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.

LIM/homeobox protein Lhx6 is a protein that in humans is encoded by the LHX6 gene.

Carbohydrate-responsive element-binding protein (ChREBP) also known as MLX-interacting protein-like (MLXIPL) is a protein that in humans is encoded by the MLXIPL gene. The protein name derives from the protein's interaction with carbohydrate response element sequences of DNA.

Gamma-1-syntrophin is a protein that in humans is encoded by the SNTG1 gene.

Protein Jade-3 is a protein that in humans is encoded by the PHF16 gene.

Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.

Protein NipSnap homolog 2 is a protein that in humans is encoded by the GBAS gene.

Guanine nucleotide-binding protein subunit beta-like protein 1 is a protein that in humans is encoded by the GNB1L gene.

Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.

Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene.

Ankyrin repeat and BTB/POZ domain-containing protein 1 is a protein that in humans is encoded by the ABTB1 gene.

Prolactin regulatory element-binding protein is a protein that in humans is encoded by the PREB gene.

Dipeptidase 3 (DPEP3) is a protein that in humans is encoded by the DPEP3 gene.

High mobility group protein B4 is a transcription factor that in humans is encoded by the HMGB4 gene.

High mobility group nucleosome-binding domain-containing protein 4 is a transcription factor that in humans is encoded by the HMGN4 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000106077 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040532 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
1 2 "Entrez Gene: ABHD11 abhydrolase domain containing 11".

External links

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

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000106077 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12073013-5] 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.

[entrez-6] 1 2 "Entrez Gene: ABHD11 abhydrolase domain containing 11".

[1]

[2]

[3]

[4]

[5]

[6]

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

ABHD11

Contents

Related Research Articles

References

External links

Further reading