| Type | Description |
|---|---|
| Definition | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
| Date | Results | Publications |
|---|---|---|
| 2020-04-11 12:13:00 | This study finds in all cases tested that tandem obscurin Ig domains interact at the poles of each domain and tend to stay relatively extended in solution. NMR, SAXS, and MD simulations reveal that while tandem domains are elongated, they also bend and flex significantly. | 30666746 |
| 2018-08-11 10:53:00 | association of frameshift and splicing variants, all clustering to the C terminus of the same isoform group, with occurrence of rare left ventricular noncompaction phenotype | 27855815 |
| 2018-02-03 10:54:00 | demonstrate that loss of giant obscurins from breast epithelial cells is associated with significantly increased phosphorylation and subsequent activation of the PI3K signaling cascade | 27323778 |
| 2017-11-26 00:18:00 | suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family | 29073160 |
| 2017-10-21 10:33:00 | Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence. | 27989621 |
| Type | IDs |
|---|---|
| Synonymous | ARHGEF30, UNC89 |
| Gene |
UniProtKB-ID:
OBSCN_HUMAN,
A6NGQ3_HUMAN
UniprotKB:
Q5VST9,
A6NGQ3
UniParc:
UPI00015B3BDF,
UPI00027FCDB5,
UPI0000425971,
UPI0001838885,
UPI00015E0D4A,
UPI0001838884
EMBL:
AL670729,
AM231061,
AB046859,
AJ314901,
AB046776,
AJ314908,
AJ314898,
AJ314904,
AJ314906,
AJ314907,
AL353593,
AJ002535,
AJ314905,
AJ314896,
AJ314903,
AJ314900,
AL359510
Ensembl:
ENSG00000154358
KO:
hsa:84033
|
| Nucleutide sequences |
EMBL-CDS:
CAC85751.1,
CAC85752.1,
CAC44768.1,
CAC85753.1,
CAC85754.1,
CAC85755.1,
CAC85745.1,
CAC85749.1,
CAC85747.1,
BAB13382.1,
CAJ76912.1,
CAC85746.1,
CAC85750.1,
BAB13465.2
Ensembl_TRS:
ENST00000422127,
ENST00000284548,
ENST00000636875,
ENST00000662438,
ENST00000636476,
ENST00000366707,
ENST00000570156
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000499633,
ENSP00000284548,
ENSP00000489816,
ENSP00000409493,
ENSP00000490900,
ENSP00000355668,
ENSP00000455507
RefSeq:
NP_001373054.1,
NP_001092093.2,
NP_443075.3,
NP_001258152.2
|
| Others |
UniRef100:
UniRef100_Q5VST9,
UniRef100_A6NGQ3
UniRef90:
UniRef90_A6NGQ3,
UniRef90_Q5VST9
UniRef50:
UniRef50_Q5VST9
UniGene:
Hs.650039,
Hs.656999
CCDS:
CCDS58065.1,
CCDS1570.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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