InnateDB Protein
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IDBP-244261.6
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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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Homo sapiens
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Ensembl Protein
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ENSP00000376827
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InnateDB Gene
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IDBG-60797 (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}.
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Subcellular Localization |
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}.
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Disease Associations |
Meckel syndrome 1 (MKS1) [MIM:249000]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:16415886, ECO:0000269PubMed:19466712}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bardet-Biedl syndrome 13 (BBS13) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 2 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[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 |
33 [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 |
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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 |
Q9NXB0
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PhosphoSite |
PhosphoSite-Q9NXB0
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TrEMBL |
F5H5Y8
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UniProt Splice Variant |
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Entrez Gene |
54903
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UniGene |
Hs.408843
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RefSeq |
NP_060247
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HUGO |
HGNC:7121
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OMIM |
609883
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CCDS |
CCDS11603
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HPRD |
07900
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IMGT |
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EMBL |
AC005962
AK000352
AK310815
BC010061
CR457229
DQ185029
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GenPept |
AAH10061
AAZ94714
BAA91105
CAG33510
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