| Type | Description |
|---|---|
| Definition | solute carrier family 18 member A3 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:51:00 | Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. | 33462016 |
| 2020-07-11 10:04:00 | results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, fetal akinesia deformation sequence, or lethal multiple pterygium syndrome of unknown etiology | 31059209 |
| 2020-02-15 12:54:00 | In Parkinson's disease patients, freezing of gait status is associated with reduced VACHT expression in striatal cholinergic neurons. | 30720884 |
| 2019-11-02 11:22:00 | There is a distinctive pattern of human neocortical VChAT expression. The patterns of thalamic and cerebellar cortical cholinergic terminal distribution are likely unique to humans | 30255936 |
| 2017-05-27 10:36:00 | The results of this study suggest that the Gly360Arg mutant VAChT protein undergoes posttranslational degradation. | 28188302 |
| Type | IDs |
|---|---|
| Synonymous | CMS21, VACHT |
| Gene |
UniProtKB-ID:
VACHT_HUMAN
UniprotKB:
Q16572
UniParc:
UPI00001F98C1
EMBL:
U10554,
BC007765,
AK313094,
AC073366,
U09210,
CH471187
Ensembl:
ENSG00000187714
KO:
hsa:6572
|
| Nucleutide sequences |
EMBL-CDS:
AAA20497.1,
EAW93093.1,
BAG35918.1,
AAB92675.1,
AAH07765.1
Ensembl_TRS:
ENST00000374115
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000363229
RefSeq:
NP_003046.2
|
| Others |
UniRef100:
UniRef100_Q16572
UniRef90:
UniRef90_Q16572
UniRef50:
UniRef50_Q16572
UniGene:
Hs.654374
CCDS:
CCDS7231.1
|
| {{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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