GgaEX0021206 @ galGal3
Exon Skipping
Gene
ENSGALG00000014463 | ACTN2_CHICK
Description
NA
Coordinates
chr3:39143174-39146586:-
Coord C1 exon
chr3:39146508-39146586
Coord A exon
chr3:39144819-39144897
Coord C2 exon
chr3:39143174-39143255
Length
79 bp
Sequences
Splice sites
3' ss Seq
TGCTTTGTGTGAATTTGTAGCTG
3' ss Score
6.96
5' ss Seq
AAGGTATTT
5' ss Score
7.64
Exon sequences
Seq C1 exon
CTGGAAAGATGGCCTTGGATTATGTGCACTTATCCACAGACACCGACCTGACCTTATTGACTACTCCAAGCTAAATAAG
Seq A exon
CTGGAAAGATGGCCTTGCTTTCAACGCCCTTATTCATAGACACAGGCCTGATCTTCTTGACTATGACAAGTTAGATAAG
Seq C2 exon
GATGACCCCATAGGAAATATCAACCTTGCCATGGAAATTGCTGAGAAACATCTGGATATCCCTAAGATGTTGGATGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSGALG00000014463-'8-8,'8-7,9-8
Average complexity
S
Mappability confidence:
75%=50=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (disopred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(25.0=100)
A:
PF0030726=CH=PD(14.5=69.2)
C2:
PF0030726=CH=FE(26.0=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGAAAGATGGCCTTGGATT
R:
TCTGCATCCAACATCTTAGGGA
Band lengths:
159-238
Functional annotations
There are 3 annotated functions for this event
PMID: 16980305
This study isolated a novel splice variant of alpha-actinin 4 (skipping exons 3-12; ENST00000424234) that is predominantly localized in the nucleus, a pattern distinct from the full-length alpha-actinin 4, which is primarily distributed in the cytoplasm and plasma membrane. Exon 3: HsaEX6094930, ex 4: HsaEX6094929, ex 5: HsaEX6094928, ex 6: HsaEX6094927, ex 7: HsaEX6094926, ex 8: HsaEX0002154, ex 9: HsaEX7010513, ex 10: HsaEX1002558, ex 11: HsaEX6094925, ex 12: HsaEX6094924.
PMID: 22908231
ACTN4(Iso) overexpression increases transcriptional activity of the VDRE and ERE promoters. Both ACTN4(WT) and ACTN4(Iso) co-immunoprecipitate with estrogen receptors. Overexpression of ACTN4(Iso) fused to Gal4 increases basal transcription. The same is seen with overexpression of ACTN4(WT)-Gal4, but the effect is smaller.
PMID: 27998979
Overexpression of either ATN4(WT) or ACTN4(Iso) increases GRE reporter activity. Disruption of the LXXLL nuclear receptor-interacting motif present in ACTN4 results in reduced GR interaction and dexamethasone-mediated transactivation of a GRE reporter while still maintaining its actin-binding activity. In contrast, an ACTN4 isoform, ACTN4 (Iso), that loses its actin-binding domain is still capable of potentiating a GRE reporter.