Version 5.4
Homo sapiens Gene: MKS1
Summary
InnateDB Gene IDBG-60797.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MKS1
Gene Name Meckel syndrome, type 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000011143
Encoded Proteins
IDBP-60799
Meckel syndrome, type 1
IDBP-244259
Meckel syndrome, type 1
IDBP-244261
Meckel syndrome, type 1
IDBP-587767
Meckel syndrome, type 1
IDBP-760507
IDBP-759372
IDBP-764027
IDBP-761274
IDBP-759880
IDBP-759181
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:58205437-58219605
Strand Reverse strand
Band q22
Transcripts
ENST00000313863 ENSP00000316631
ENST00000393120 ENSP00000376828
ENST00000393119 ENSP00000376827
ENST00000537529 ENSP00000442096
ENST00000579358
ENST00000583577
ENST00000580127 ENSP00000462423
ENST00000581761 ENSP00000462129
ENST00000585134 ENSP00000463826
ENST00000581180
ENST00000578789 ENSP00000462411
ENST00000577315 ENSP00000462179
ENST00000577824 ENSP00000462460
Interactions
Number of Interactions 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]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 33 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0042384 cilium assembly
GO:0048754 branching morphogenesis of an epithelial tube
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0016020 membrane
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
GO:0036064 ciliary basal body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034121
View Gene Order
ENSBTAG00000034963
Not yet available
Pathways
NETPATH
REACTOME
REACT_228134
Signaling by Hedgehog pathway
REACT_111102
Signal Transduction pathway
REACT_267634
Hedgehog 'off' state pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL J9PBQ5
UniProt Splice Variant
Entrez Gene 54903
UniGene Hs.408843
RefSeq XM_005257486 NM_001165927 NM_017777 XM_005257484 XM_006721964
HUGO HGNC:7121
OMIM 609883
CCDS CCDS11603 CCDS54148
HPRD 07900
IMGT
EMBL AC005962
GenPept
RNA Seq Atlas 54903

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca