| Type | Description |
|---|---|
| Definition | leucine rich repeat and sterile alpha motif containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:15:00 | Ubiquitin ligase LRSAM1 suppresses neurodegenerative diseases linked aberrant proteins induced cell death. | 31982566 |
| 2020-10-10 12:57:00 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 31852984 |
| 2020-06-13 11:15:00 | Our results confirm the localization of variants in its catalytic C-terminal RING domain and broaden the phenotypic spectrum of LRSAM1-related neuropathies, including painful and predominantly sensory ataxic forms. | 30996334 |
| 2019-11-09 10:07:00 | We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in 4 members of a Chinese autosomal dominant Charcot-Marie-Tooth disease type 2 family | 29341362 |
| 2019-05-25 12:08:00 | The article systematically represents the molecular functions, nature and detailed characterization of LRSAM1 E3 ubiquitin ligase, which are linked to molecular mechanisms of neurodegeneration. (Review) | 30826859 |
| Type | IDs |
|---|---|
| Synonymous | CMT2P, RIFLE, TAL |
| Gene |
UniProtKB-ID:
LRSM1_HUMAN,
A0A024R870_HUMAN
UniprotKB:
Q6UWE0,
A0A024R870
UniParc:
UPI0000072D60,
UPI000013DB12,
UPI000013E657
EMBL:
AL445222,
AK056305,
CH471090,
AK091589,
AK056203,
AY358830,
BC009239
Ensembl:
ENSG00000148356
KO:
hsa:90678
|
| Nucleutide sequences |
EMBL-CDS:
BAC03703.1,
AAH09239.1,
AAQ89189.1,
BAB71144.1,
BAB71119.1,
EAW87671.1,
EAW87673.1,
EAW87672.1
Gene_ORFName:
UNQ6496/PRO21356,
hCG_2039404
Ensembl_TRS:
ENST00000373322,
ENST00000323301,
ENST00000300417,
ENST00000373324
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000300417,
ENSP00000362419,
ENSP00000362421,
ENSP00000322937
RefSeq:
NP_612370.3,
NP_001005373.1,
NP_001177652.1,
NP_001371073.1,
NP_001371071.1,
NP_001005374.1,
NP_001371072.1
|
| Others |
UniRef100:
UniRef100_Q6UWE0
UniRef90:
UniRef90_Q6UWE0
UniRef50:
UniRef50_Q6UWE0
UniGene:
Hs.495188
CCDS:
CCDS55347.1,
CCDS6873.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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