InnateDB Protein
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IDBP-207773.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Mks1
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Protein Name
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Meckel syndrome, type 1
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000043790
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InnateDB Gene
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IDBG-207771 (Mks1)
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Protein Structure
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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:0000269PubMed:17185389, ECO:0000269PubMed:19515853, ECO:0000269PubMed:21725307, ECO:0000269PubMed:22179047}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:21725307}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
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Disease Associations |
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Tissue Specificity |
Widely expressed in embryo at E15.5, with a relatively strong expression in brain, liver, kidney and digits of the upper limbs. Highly expressed in bronchiolar epithelium. {ECO:0000269PubMed:16415886}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
38
[view]
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Protein-Protein |
38
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:3584243
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InterPro |
IPR010796
B9 domain
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PFAM |
PF07162
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q5SW45
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PhosphoSite |
PhosphoSite-Q5SW45
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TrEMBL |
Q284W0
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UniProt Splice Variant |
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Entrez Gene |
380718
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UniGene |
Mm.24404
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RefSeq |
NP_001034773
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MGI ID |
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MGI Symbol |
Mks1
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OMIM |
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CCDS |
CCDS36271
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HPRD |
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IMGT |
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EMBL |
AK030982
AL606805
DQ177342
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GenPept |
ABA61560
BAE20467
CAI25723
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