| Type | Description |
|---|---|
| Definition | C9orf72-SMCR8 complex subunit |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:37:00 | Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD. | 32330447 |
| 2021-04-13 10:07:00 | The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALS. | 32830871 |
| 2021-04-03 13:35:00 | In vivo histopathological staging in C9orf72-associated ALS: A tract of interest DTI study. | 32505118 |
| 2021-04-03 13:35:00 | ""Switchboard"" malfunction in motor neuron diseases: Selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis. | 32554322 |
| 2021-04-03 13:33:00 | Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation. | 33106391 |
| Type | IDs |
|---|---|
| Synonymous | ALSFTD, DENNL72, FTDALS, FTDALS1 |
| Gene |
UniProtKB-ID:
CI072_HUMAN
UniprotKB:
Q96LT7
UniParc:
UPI0000072F98,
UPI00001D3FEF
EMBL:
AL451123,
JN681271,
BC068445,
AK057806,
AK291425,
CH471071
Ensembl:
ENSG00000147894
KO:
hsa:203228
|
| Nucleutide sequences |
EMBL-CDS:
EAW58558.1,
AET41697.1,
BAF84114.1,
EAW58560.1,
BAB71583.1,
AAH68445.1,
EAW58561.1
Ensembl_TRS:
ENST00000619707,
ENST00000379995,
ENST00000380003,
ENST00000379997
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369333,
ENSP00000482753,
ENSP00000369331,
ENSP00000369339
RefSeq:
NP_001242983.1,
NP_659442.2,
NP_060795.1
|
| Others |
UniRef100:
UniRef100_Q96LT7
UniRef90:
UniRef90_Q96LT7
UniRef50:
UniRef50_Q96LT7
UniGene:
Hs.493639
CCDS:
CCDS6523.1,
CCDS6522.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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