ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:130
Internal ref. ID:726
Submitter name:DARYA
Entry date:21-SEP-2004 16:07:59
Modification date:27-JAN-2005 14:21:49
 
Regulatory sequence name:dmd, pseudo exon from intron
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:hnRNP G, Tra2
 
EMBL/Genbank/DDBJ/RefSeq Accession number:
Ensembl ID:
AEdb ID:
Sequence:AAGTAACAA
Mutated regulatory sequence:
 
Methods:Competition experiments
Keywords:cardiomyopathy,skeletal muscle,tropomyosin 3,exon 5
 
Citation line:Nasim, M. T., T. K. Chernova, et al. (2003). "HnRNP G and Tra2beta: opposite effects on splicing matched by antagonism in RNA binding." Hum Mol Genet 12(11): 1337-48
PubMed ID:12761049
 
Comments:HnRNP G acts via a specific sequence to repress the skeletal muscle-specific exon (SK) of human slow skeletal alpha-tropomyosin, TPM3, and stimulates inclusion of the alternative non-muscle exon. The binding of hnRNP G to the exon is antagonized by hTra2beta. The two proteins also have opposite effects upon a dystrophin pseudo-exon. This exon is incorporated in a patient to a higher level in heart muscle than skeletal muscle, causing X-linked dilated cardiomyopathy
(activated in workbench):Y
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