| Type | Description |
|---|---|
| Definition | WD repeat domain 35 |
| Date | Results | Publications |
|---|---|---|
| 2019-04-27 12:13:00 | Over-expression of WDR35 results in decreased phosphorylation of ribosome S6 protein in a RagA-, RagB- and RagC-dependent manner. Thus, WDR35 is associated with RagA, RagB and RagC and might negatively influence mTORC1 activity. | 30570184 |
| 2019-04-13 11:09:00 | Results demonstrated that copy number variation (CNV) of WDR35 may lead to skeletal dysplasia and fetal anomaly, and that down-regulated WDR35 may damage the cilia formation and sequentially indirectly regulate Gli signal, which would eventually result in negative regulation of osteogenic differentiation. | 30790652 |
| 2018-09-22 11:47:00 | Homozygous missense mutation in WDR35 gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy. | 29174089 |
| 2018-09-01 11:58:00 | The observations of the Sensenbrenner syndrome patient in this study provide additional clinical data and expand the molecular spectrum of Sensenbrenner syndrome. Moreover, the two variants identified in the proband provide further evidence for the WDR35 mutations as the most common cause of this rare syndrome. | 29134781 |
| 2018-03-31 10:46:00 | A differential diagnosis of Sensenbrenner Syndrome was made after a novel homozygous missense mutation in WDR35 was identified in a patient with initial diagnosis of Jeune syndrome. | 28870638 |
| Type | IDs |
|---|---|
| Synonymous | CED2, IFT121, IFTA1, SRTD7 |
| Gene |
UniProtKB-ID:
WDR35_HUMAN
UniprotKB:
Q9P2L0
UniParc:
UPI00001AF317,
UPI000034E5D3
EMBL:
AC079145,
AB037757,
AK122917,
BC036659,
CH471053
Ensembl:
ENSG00000118965
KO:
hsa:57539
|
| Nucleutide sequences |
EMBL-CDS:
AAX88936.1,
BAA92574.2,
BAG53797.1,
AAH36659.1,
EAX00841.1
Ensembl_TRS:
ENST00000281405,
ENST00000345530
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000314444,
ENSP00000281405
RefSeq:
NP_065830.2,
XP_011531309.1,
NP_001006658.1
|
| Others |
UniRef100:
UniRef100_Q9P2L0
UniRef90:
UniRef90_Q9P2L0
UniRef50:
UniRef50_Q9P2L0
UniGene:
Hs.205427
CCDS:
CCDS1695.1,
CCDS33152.1
|
| {{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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