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Merck

WH0007337M1

Sigma-Aldrich

Monoclonal Anti-UBE3A antibody produced in mouse

clone 2F6, purified immunoglobulin, buffered aqueous solution

Synonym(e):

Anti-ANCR, Anti-AS, Anti-E6AP, Anti-EPVE6AP, Anti-HPVE6A, Anti-ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)

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About This Item

MDL-Nummer:
UNSPSC-Code:
12352203
NACRES:
NA.41

Biologische Quelle

mouse

Konjugat

unconjugated

Antikörperform

purified immunoglobulin

Antikörper-Produkttyp

primary antibodies

Klon

2F6, monoclonal

Form

buffered aqueous solution

Speziesreaktivität

human

Methode(n)

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
indirect immunofluorescence: suitable
western blot: 1-5 μg/mL

Isotyp

IgG2aκ

GenBank-Hinterlegungsnummer

UniProt-Hinterlegungsnummer

Versandbedingung

dry ice

Lagertemp.

−20°C

Posttranslationale Modifikation Target

unmodified

Angaben zum Gen

human ... UBE3A(7337)

Verwandte Kategorien

Allgemeine Beschreibung

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. (provided by RefSeq)

Immunogen

UBE3A (AAH09271, 51 a.a. ~ 150 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
ETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNKKGPRVDPLETELGVKTLDCR

Biochem./physiol. Wirkung

The ubiquitin protein ligase E3A (UBE3A) functions as E3 ligase in the ubiquitin-proteasome pathway and act as transcriptional coactivator of steroid hormone receptors such as progesterone, estrogen and other hormone receptors. During papilloma virus infection, ubiquitin protein ligase E3A (UBE3A), along with E6 viral protein, plays a vital role in degradation of the cell cycle regulatory protein p53. Anomalistic degradation of p53 can cause cervical cancer. Inactivation or deletion of UBE3A gene leads to the neurodevelopmental disorder Angelman syndrome (AS), while overexpression of maternal UBE3A gene is associated with autism pathogenesis. Therefore UBE3A level has to be properly controlled for normal brain development.

Physikalische Form

Solution in phosphate buffered saline, pH 7.4

Rechtliche Hinweise

GenBank is a registered trademark of United States Department of Health and Human Services

Haftungsausschluss

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Lagerklassenschlüssel

10 - Combustible liquids

Flammpunkt (°F)

Not applicable

Flammpunkt (°C)

Not applicable

Persönliche Schutzausrüstung

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)


Analysenzertifikate (COA)

Suchen Sie nach Analysenzertifikate (COA), indem Sie die Lot-/Chargennummer des Produkts eingeben. Lot- und Chargennummern sind auf dem Produktetikett hinter den Wörtern ‘Lot’ oder ‘Batch’ (Lot oder Charge) zu finden.

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Die Dokumentenbibliothek aufrufen

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
Dindot SV
Human Molecular Genetics, 17(1), 111-118 (2008)
Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.
LaSalle JM
Epigenomics, 7(7), 1213-1228 (2015)
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Matsuura T
Nature Genetics, 15(1), 74-77 (1997)
Catalytically Important Residues of E6AP Ubiquitin Ligase Identified Using Acid-Cleavable Photo-Cross-Linkers.
Krist DT and Statsyuk AV
Biochemistry, 54(29), 4411-4414 (2015)
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Yi JJ
Cell, 162(4), 795-807 (2015)

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