| Type | Description |
|---|---|
| Definition | alsin Rho guanine nucleotide exchange factor ALS2 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-26 13:03:00 | ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes. | 31959474 |
| 2019-07-20 10:09:00 | These findings define a novel pathway whereby Alsin catalyzes the assembly of the Rab5 endocytic machinery on mitochondria. Defects in stress-sensing by endosomes could be crucial for mitochondrial quality control during the onset of amyotrophic lateral sclerosis. | 29469808 |
| 2019-06-01 12:28:00 | Disorganized higher structures of ALS2 variants impaired endosomal localization and the stability, leading to loss of the ALS2 function. | 30224357 |
| 2018-11-17 10:52:00 | This study identified a novel ALS2 pathogenic founder variant in Iran that further adds to the allelic heterogeneity of infantile-onset ascending hereditary spastic paralysis. | 30128655 |
| 2018-03-17 11:43:00 | Nonsense mutation in ALS2 gene is associated with severe and progressive infantile onset of spastic paralysis. | 28502191 |
| Type | IDs |
|---|---|
| Synonymous | ALS2CR6, ALSJ, IAHSP, PLSJ |
| Gene |
UniProtKB-ID:
ALS2_HUMAN,
A8K4R4_HUMAN
UniprotKB:
Q96Q42,
A8K4R4
UniParc:
UPI0000231C77,
UPI00002093C5,
UPI00015DA62E,
UPI0001D14725
EMBL:
AK291029,
CH471063,
AB053306,
AC007242,
AB053305,
AC007279,
AK023024,
AB046783,
BC029174,
AF391100
Ensembl:
ENSG00000003393
KO:
hsa:57679
|
| Nucleutide sequences |
EMBL-CDS:
BAB13389.2,
BAB69014.1,
EAW70291.1,
AAL14103.1,
AAH29174.1,
AAX93181.1,
AAY15058.1,
BAB14362.1,
BAB69015.1,
BAF83718.1
Ensembl_TRS:
ENST00000467448,
ENST00000264276
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000429223,
ENSP00000264276
RefSeq:
XP_006712718.1,
XP_016860059.1,
XP_024308793.1,
XP_016860061.1,
XP_024308792.1,
XP_006712717.1,
NP_001129217.1,
NP_065970.2,
XP_016860058.1
|
| Others |
UniRef100:
UniRef100_Q96Q42
UniRef90:
UniRef90_Q96Q42
UniRef50:
UniRef50_Q96Q42
UniGene:
Hs.471096,
Hs.621812
CCDS:
CCDS42800.1,
CCDS46492.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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