| Type | Description |
|---|---|
| Definition | Meckel syndrome, type 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-09-09 11:55:00 | demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium | 28291807 |
| 2017-07-22 10:07:00 | Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans | 27340223 |
| 2011-04-09 10:45:00 | Centriole localization of Mks1 is required for ciliogenesis of motile and non-motile cilia, but not for centriole assembly. | 21045211 |
| 2010-02-15 12:08:00 | Mks1 is required for ciliogenesis and shh signaling in mouse model of human meckel syndrome. | 19776033 |
| 2010-01-21 00:00:00 | Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. | 16415886 |
| Type | IDs |
|---|---|
| Synonymous | AK190930, B8d3, avc6 |
| Gene |
UniProtKB-ID:
MKS1_MOUSE,
Q284W0_MOUSE
UniprotKB:
Q5SW45,
Q284W0
UniParc:
UPI00004704C0
EMBL:
AL606805,
DQ177342,
AK030982
Ensembl:
ENSMUSG00000034121
KO:
mmu:380718
|
| Nucleutide sequences |
EMBL-CDS:
BAE20467.1,
ABA61560.1
Ensembl_TRS:
ENSMUST00000038196
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000043790
RefSeq:
NP_001034773.2,
XP_017170120.1,
XP_036012711.1
|
| Others |
UniRef100:
UniRef100_Q5SW45
UniRef90:
UniRef90_Q5SW45
UniRef50:
UniRef50_Q5SW45
UniGene:
Mm.24404
CCDS:
CCDS36271.1
|
| {{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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