| Type | Description |
|---|---|
| Definition | WD repeat domain 60 |
| Date | Results | Publications |
|---|---|---|
| 2019-03-30 12:11:00 | WDR60 plays a major role and TCTEX1D2 plays an auxiliary role in the dynein-2 complex to mediate retrograde ciliary protein trafficking. | 29742051 |
| 2019-02-16 10:20:00 | loss of function of dynein-2 WDR34 and WDR60 subunits leads to defects in transition zone architecture, as well as intraflagellar transport. | 30320547 |
| 2019-01-12 12:04:00 | Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies. | 29271569 |
| 2016-12-17 11:53:00 | exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome | 26874042 |
| 2013-11-16 11:20:00 | These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. | 23910462 |
| Type | IDs |
|---|---|
| Synonymous | FAP163, SRPS6, SRTD8 |
| Gene |
UniProtKB-ID:
DC2I1_HUMAN,
A0A140VK66_HUMAN
UniprotKB:
Q8WVS4,
A0A140VK66
UniParc:
UPI000020E761
EMBL:
BC014491,
HM005606,
AK001162,
AC124833,
AC004863
Ensembl:
ENSG00000126870
KO:
hsa:55112
|
| Nucleutide sequences |
EMBL-CDS:
BAA91528.1,
AAH14491.2,
AEE61203.1
Ensembl_TRS:
ENST00000407559
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000384290
RefSeq:
XP_011514669.1,
NP_001337847.1,
XP_016867870.1,
XP_011514670.1,
NP_060521.4,
NP_001337843.1,
XP_006716104.1,
NP_001337844.1,
XP_005249606.1,
XP_016867877.1,
NP_001337845.1,
XP_016867871.1,
XP_011514671.1,
NP_001337846.1
|
| Others |
UniRef100:
UniRef100_Q8WVS4
UniRef90:
UniRef90_Q8WVS4
UniRef50:
UniRef50_Q8WVS4
UniGene:
Hs.389945
CCDS:
CCDS47757.1
|
| {{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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