产品名称
MBNL1 Rabbit Polyclonal Antibody
基因名称
MBNL1 EXP KIAA0428 MBNL
蛋白名称
Muscleblind-like protein 1 (Triplet-expansion RNA-binding protein)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4154
Human Swissprot No.
Q9NR56
Human Swissprot Link
https://www.uniprot.org/uniprot/Q9NR56
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56758
Mouse Swissprot No.
Q9JKP5
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9JKP5/entry
特异性
This antibody detects endogenous levels of MBNL1 at Human, Mouse
运输及保存条件
-15°C to -25°C/1 year(Do not lower than -25°C)
组织表达
Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
细胞定位
Nucleus . Cytoplasm . Cytoplasmic granule . Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).
功能
Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.
