| Type | Description |
|---|---|
| Definition | McKusick-Kaufman syndrome |
| Date | Results | Publications |
|---|---|---|
| 2019-03-02 12:06:00 | Loss of Bardet-Biedl Syndrome proteins (BBS) proteins Bbs6 and Bbs8 affects ciliated retinal pigment epithelium (RPE). | 30446775 |
| 2013-11-21 12:11:00 | Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively. | 23671934 |
| 2012-07-07 11:57:00 | Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 & MKKS affects multiprotein complex integrity at the cilia transition zone & basal body. | 22446187 |
| 2011-01-15 10:31:00 | Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 and Bbs6 genes affect differentially the vascular function. | 20852044 |
| 2010-01-21 00:00:00 | These results indicate that the MKKS mutants have an abnormal conformation and that chaperone-dependent degradation mediated by CHIP is a key feature of McKusick-Kaufman syndrome/Bardet-Biedl syndrome diseases. | 18094050 |
| Type | IDs |
|---|---|
| Synonymous | 1300013E18Rik, AI463362, AI957237, Bbs6 |
| Gene |
UniProtKB-ID:
MKKS_MOUSE,
Q9DBF3_MOUSE
UniprotKB:
Q9JI70,
Q9DBF3
UniParc:
UPI00000EB9CF,
UPI0000028300
EMBL:
AK032554,
BC117836,
AK032528,
AK004987,
AF254074,
AL731706
Ensembl:
ENSMUSG00000027274
KO:
mmu:59030
|
| Nucleutide sequences |
EMBL-CDS:
AAF73965.1,
BAC27921.1,
BAC27912.1,
AAI17837.1,
BAB23722.1
Ensembl_TRS:
ENSMUST00000110089,
ENSMUST00000028730
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000028730,
ENSMUSP00000105716
RefSeq:
NP_067502.2,
NP_001273912.1,
XP_036018331.1,
NP_001273910.1,
XP_036018330.1,
NP_001135418.1
|
| Others |
UniRef100:
UniRef100_Q9JI70,
UniRef100_Q9DBF3
UniRef90:
UniRef90_Q9JI70
UniRef50:
UniRef50_Q9NPJ1
UniGene:
Mm.272570
CCDS:
CCDS16794.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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