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MKS1 - Meckel syndrome, type 1
Canonical
Pathway
Entrez Gene Name: Meckel syndrome, type 1
Entrez GeneID: Human(54903)
, Mouse(380718), Rat(287612)
, Mouse(380718), Rat(287612) Synonyms: AK190930, B8d3, BBS13, FLJ20345, MES, MGC124860, MKS, MKS1, POC12
Gene Summary
- Human (54903): The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Regulates:
| Regulated by:
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Cellular Components
cell projection, centrosome, cilium, cytoplasm, cytoskeleton, microtubule basal body
Literature References
- 16169070Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE. A human protein-protein interaction network: a resource for annotating the proteome.Cell 2005 Sep 23;122(6):957-68
- 20195357Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T, Akasaka H, Sugiyama J, Matsumoto Y, Yanagawa H. A comprehensive resource of interacting protein regions for refining human transcription factor networks.PLoS One 2010 01 1;5(2):e9289
- 19515853Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH, Harris PC. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.Hum Mol Genet 2009 09 1;18(17):3311-23