| Gene Symbol |
MKS1
|
| Entrez Gene |
54903
|
| Alt Symbol |
BBS13, MES, MKS, POC12
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Meckel syndrome, type 1
|
| Other Description |
FABB proteome-like protein|Meckel syndrome type 1 protein|POC12 centriolar protein homolog
|
| Swissprots |
Q96G13 Q9NXB0 Q284T0 F5H885 B7WNX4
|
| Accessions |
EAW94476 EAW94477 EAW94478 Q9NXB0 AI208274 AK000352 BAA91105 AK301020 BAG62637 AK310815 BC010061 AAH10061 BE327525 CR457229 CAG33510 DQ185029 AAZ94714 XM_005257483 XP_005257540 XM_005257485 XP_005257542 XM_005257486 XP_005257543 XM_006721965 XP_006722028 XM_011524957 XP_011523259 XM_011524958 XP_011523260 XM_011524959 XP_011523261 XM_011524960 XP_011523262 XR_934494 NM_001165927 NP_001159399 NM_017777 NP_060247
|
| Function |
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. {ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
|
![Western Blot: MKS1 Overexpression Lysate (Adult Normal) [NBP2-06923] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for MKS1.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/8305_MKS1%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-06923-img0001.jpg)