| Type | Description |
|---|---|
| Definition | actin alpha 1, skeletal muscle b |
| Date | Results | Publications |
|---|---|---|
| 2018-07-21 11:47:00 | A genetic actc1b mutant exhibits mild muscle defects and is unaffected by injection of the actc1b targeting morpholino. The milder phenotype results from a compensatory transcriptional upregulation of an actin paralogue providing a novel approach to be explored for the treatment of actin myopathy. These findings provide further evidence that genetic compensation may influence the penetrance of disease-causing mutations. | 29420541 |
| Type | IDs |
|---|---|
| Synonymous | actc, actc1, cfk, hm:zeh0631, zeh0631 |
| Gene |
UniProtKB-ID:
Q4KMI7_DANRE
UniprotKB:
Q4KMI7
UniParc:
UPI000054CA04
EMBL:
BC098546
KO:
dre:407658
|
| Nucleutide sequences |
EMBL-CDS:
AAH98546.1
|
| Protein sequencees |
RefSeq:
NP_999949.2
|
| Others |
UniRef100:
UniRef100_Q4KMI7
UniRef90:
UniRef90_Q4KMI7
UniRef50:
UniRef50_P08023
UniGene:
Dr.47173
|
| {{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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||||
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