| Type | Description |
|---|---|
| Definition | dedicator of cytokinesis 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 10:54:00 | hree patients with genetic variants in the dedicator of cytokinesis 3 (DOCK3) who presented with global developmental delay (GDD), hypotonia, and wide-based or uncoordinated gait. | 30976111 |
| 2018-06-23 10:31:00 | here we report a second case of biallelic DOCK3 mutation due to homozygous deletion. Given the clinical similarities among the cases with DOCK3 mutations, we provided further evidence that biallelic mutations of DOCK3 lead to a specific DOCK3-related neurodevelopmental syndrome | 29130632 |
| 2018-05-19 10:55:00 | Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development | 28195318 |
| 2016-12-31 10:07:00 | Inhibition of Dock3 by Dock3 shRNA impaired the severity of status epilepticus in the acute stage and decreased the spontaneous recurrent seizures times in the chronic stage of lithium-pilocarpine model and decreased the expression of rac1-GTP. | 26319681 |
| 2015-08-08 10:32:00 | Results supported that miR-512-3p could inhibit tumor cell adhesion, migration, and invasion by regulating the RAC1 activity via DOCK3 in NSCLC A549 and H1299 cell lines. | 25687035 |
| Type | IDs |
|---|---|
| Synonymous | MOCA, NEDIDHA, PBP |
| Gene |
UniProtKB-ID:
DOCK3_HUMAN
UniprotKB:
Q8IZD9
UniParc:
UPI000007412C
EMBL:
AB002297,
AY145303,
AY254099
Ensembl:
ENSG00000088538
KO:
hsa:1795
|
| Nucleutide sequences |
EMBL-CDS:
AAN12301.1,
AAP80572.1,
BAA20759.1
Ensembl_TRS:
ENST00000266037
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000266037
RefSeq:
XP_006713071.1,
XP_011531745.1,
XP_005264972.1,
XP_006713073.1,
XP_016861315.1,
XP_005264974.1,
XP_011531743.1,
XP_016861317.1,
XP_005264973.1,
XP_006713072.1,
XP_016861314.1,
XP_005264971.1,
XP_005264975.1,
XP_011531747.1,
XP_016861316.1,
NP_004938.1,
XP_011531746.1
|
| Others |
UniRef100:
UniRef100_Q8IZD9
UniRef90:
UniRef90_Q8IZD9
UniRef50:
UniRef50_Q8IZD9
UniGene:
Hs.476284
CCDS:
CCDS46835.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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