| Type | Description |
|---|---|
| Definition | vacuolar protein sorting 13 homolog A |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:09:00 | TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes. | 33087848 |
| 2021-01-09 13:25:00 | New pathogenic mutation of chorea-acanthocytosis.", trans "Nueva mutacion patogenica de corea-acantocitosis. | 29752031 |
| 2020-12-05 12:59:00 | The binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro. | 32407779 |
| 2020-12-05 12:58:00 | Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis. | 32151030 |
| 2020-05-09 12:33:00 | A novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome sequencing, which caused Choreoacanthocytosis in a Moroccan family. | 32131761 |
| Type | IDs |
|---|---|
| Synonymous | CHAC, CHOREIN |
| Gene |
UniProtKB-ID:
VP13A_HUMAN
UniprotKB:
Q96RL7
UniParc:
UPI0000210B7A,
UPI000023B7D1,
UPI0000210B81,
UPI000015FEE1
EMBL:
AL353710,
BC020576,
AJ608769,
BC041852,
AL359204,
AL158159,
AJ626859,
AF337532,
AK022967,
AB023203,
AB054005
Ensembl:
ENSG00000197969
KO:
hsa:23230
|
| Nucleutide sequences |
EMBL-CDS:
BAA76830.1,
AAK61861.1,
BAB59128.1,
AAH20576.1,
CAE75581.1,
BAB14337.1,
CAF25186.1,
AAH41852.1
Ensembl_TRS:
ENST00000645632,
ENST00000643348,
ENST00000376636,
ENST00000360280
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000353422,
ENSP00000365823,
ENSP00000496361,
ENSP00000493592
RefSeq:
NP_150648.2,
NP_001018048.1,
NP_056001.1,
NP_001018047.1
|
| Others |
UniRef100:
UniRef100_Q96RL7
UniRef90:
UniRef90_Q96RL7
UniRef50:
UniRef50_Q96RL7
UniGene:
Hs.459790,
Hs.662256
CCDS:
CCDS47983.1,
CCDS6656.1,
CCDS55321.1,
CCDS6655.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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