ASD - ALTERNATIVE SPLICING


View Record


FIELD NAME
FIELD VALUE
  
AEdbMotif ID:107
Internal ref. ID:
Submitter name:MAREK, STEFAN
Entry date:21-SEP-2004 10:20:32
Modification date:19-SEP-2005 14:35:56
 
Regulatory sequence name:smn1 exon 7
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:Htra2;1, hnRNP;G, SRp30c
 
EMBL/Genbank/DDBJ/RefSeq Accession number:
Ensembl ID:
AEdb ID:
Sequence:AAGAAGGAAGG
Mutated regulatory sequence:
 
Methods:Unknown
Keywords:
 
Citation line:Hofmann, Y., C. L. Lorson, S. Stamm, E. J. Androphy, and B. Wirth. 2000. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc.Natl.Acad.Sci.U.S.A 97:9618-9623. ; DiDonato, C. J., C. L. Lorson, Y. De Repentigny, L. Simard, C. Chartrand, E. J. Androphy, and R. Kothary. 2001. Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing. Hum.Mol.Genet. 10:2727-2736. ; Hofmann, Y. and B. Wirth. 2002. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum.Mol.Genet. 11:2037-2049.
PubMed ID:10931943 , 11726560 , 12165565
 
Comments:
(activated in workbench):Y
spacer

spacer