This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Tissue Specificity:
Ubiquitous.
DISEASE:
NSUN5P1 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 class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
SWISS:
Q3KNT7
Gene ID:
155400
Database links:
Entrez Gene: 155400 Human
SwissProt: Q3KNT7 Human
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Paraformaldehyde-fixed, paraffin embedded (Rat uterus); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (NSUN5P1) Polyclonal Antibody, Unconjugated (SL19481R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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