| Type | Description |
|---|---|
| Definition | Vac14, PIKFYVE complex component |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:41:00 | Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. | 31876398 |
| 2020-03-14 12:11:00 | The patient fibroblasts showed extensive vacuolization, characteristic of VAC14-related disorders. | 31591492 |
| 2019-09-21 12:51:00 | Increased albuminuria in Vac14(L156R)-overexpressing mice is a consequence of a lowered endo- and transcytosis of albumin in renal tubules. | 30066585 |
| 2019-03-23 11:29:00 | Nbeal2 interacts with Dock7, Sec16a, and Vac14. | 29187380 |
| 2018-06-30 10:36:00 | The association data demonstrated strong correlations between rs8060947 and VAC14 expression and between rs8060947 and S. Typhi invasion. The direction of effects for the different alleles led to the hypothesis that reducing VAC14 expression would increase S. Typhi invasion. | 28827342 |
| Type | IDs |
|---|---|
| Synonymous | ArPIKfyve, TAX1BP2, TRX |
| Gene |
UniProtKB-ID:
VAC14_HUMAN
UniprotKB:
Q08AM6
UniParc:
UPI000059D3B3,
UPI00001A832B
EMBL:
AC020763,
BC007214,
U25801,
AK093941,
BC000536,
AK056433,
BC125109,
CR457343,
AK025479,
BC125108,
AC027281
Ensembl:
ENSG00000103043
KO:
hsa:55697
|
| Nucleutide sequences |
EMBL-CDS:
BAG52790.1,
AAI25110.1,
BAG51707.1,
BAB15145.1,
AAH07214.2,
CAG33624.1,
AAI25109.1,
AAH00536.2,
AAB03813.1
Ensembl_TRS:
ENST00000261776,
ENST00000536184
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261776,
ENSP00000439284
RefSeq:
NP_060522.3,
NP_001338086.1,
XP_011521527.1,
XP_005256098.2,
XP_011521525.1,
XP_011521526.1,
XP_016878930.1,
XP_016878931.1,
XP_005256095.1
|
| Others |
UniRef100:
UniRef100_Q08AM6
UniRef90:
UniRef90_Q08AM6
UniRef50:
UniRef50_Q08AM6
UniGene:
Hs.445061
CCDS:
CCDS10896.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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