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Product Name NSUN5 Chinese Name 甲基转移酶NSUN5抗体 Alias FLJ10267; MGC986; NOL1; NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOL1R; NOP2/Sun domain family, member 5; NOP2/Sun domain family, member 5A; NSUN5; NSUN5_HUMAN; p120; Putative methyltransferase NSUN5; WBSCR20; WBSCR20A; Williams Beuren syndrome chromosome region 20A; Williams-Beuren syndrome chromosomal region 20A protein; Williams-Beuren syndrome critical region protein 20 copy A. Research Area Signal transduction Stem cells Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species Human, Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 47kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human NSUN5: 2-100/429 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Function:
May have S-adenosyl-L-methionine-dependent methyl-transferase activity.
Tissue Specificity:
Ubiquitous. Detected in placenta, heart and skeletal muscle.
Post-translational modifications:
Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Similarity:
Belongs to the methyltransferase superfamily. RsmB/NOP family.
SWISS:
Q96P11
Gene ID:
55695
Database links:Entrez Gene: 55695 Human
SwissProt: Q96P11 Human
Unigene: 647060 Human
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