| Type | Description |
|---|---|
| Definition | Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 13:25:00 | Study discovered that Smcr8 deficiency disrupts motor neurons axonal transport and lysosomal functions, leading to axonal swellings then motor behavior deficits in mice. The expression of Smcr8, like that of C9orf72, is reduced in mouse models and patient tissues. Smcr8 deficiency exacerbates axonal swellings and C9ALS/FTD gain of toxicity, providing new insights into the pathogenesis of C9ALS/FTD. | 31625563 |
| 2020-05-09 12:19:00 | A key role of SMCR8 in regulating MTORC1 and AKT signaling and tissue homeostasis. | 30696333 |
| 2018-08-11 12:01:00 | C9ORF72 and SMCR8 have interdependent functions in suppressing autoimmunity as well as negatively regulating lysosomal exocytosis-processes of potential importance to amyotrophic lateral sclerosis. | 29950492 |
| 2018-01-27 10:40:00 | We created Smcr8 knockout mice and found that Smcr8 mutant cells exhibit impaired autophagy induction, which is similarly observed in C9orf72 knockdown cells. Mechanistically, SMCR8/C9ORF72 interacts with the key autophagy initiation ULK1 complex and regulates expression and activity of ULK1 | 27617292 |
| 2017-05-13 13:42:00 | These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases | 27875531 |
| Type | IDs |
|---|---|
| Synonymous | 2310076G09Rik, AI642055, D030073L15Rik |
| Gene |
UniProtKB-ID:
SMCR8_MOUSE
UniprotKB:
Q3UMB5
UniParc:
UPI00004CAB80,
UPI00000EB1E6
EMBL:
BC085095,
AK083739,
AK052754,
AL596215,
AK145010
Ensembl:
ENSMUSG00000049323
KO:
mmu:237782
|
| Nucleutide sequences |
EMBL-CDS:
AAH85095.1,
BAC35133.1,
BAE26183.1,
BAC39010.1
Ensembl_TRS:
ENSMUST00000056907,
ENSMUST00000102667
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000055926,
ENSMUSP00000099728
RefSeq:
NP_780700.1,
NP_001078909.1
|
| Others |
UniRef100:
UniRef100_Q3UMB5
UniRef90:
UniRef90_Q3UMB5
UniRef50:
UniRef50_Q8TEV9
UniGene:
Mm.57726
CCDS:
CCDS48814.1,
CCDS24798.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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