Version 5.4
Bos taurus Gene: MKS1
Summary
InnateDB Gene IDBG-629336.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MKS1
Gene Name Meckel syndrome type 1 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000034963
Encoded Proteins
IDBP-680757
MKS1 proteinUncharacterized protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000011143:
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 19:9378329-9393110
Strand Reverse strand
Band
Transcripts
ENSBTAT00000049437 ENSBTAP00000046330
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 29 interaction(s) predicted by orthology.
Predicted by orthology
Total 29 [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
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000011143
View Gene Order
ENSMUSG00000034121
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_228134
Signaling by Hedgehog pathway
REACT_111102
Signal Transduction pathway
REACT_267634
Hedgehog 'off' state pathway
REACT_269412
Hedgehog 'off' state pathway
REACT_250064
Signaling by Hedgehog pathway
REACT_188257
Signal Transduction pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL A6QQN3
UniProt Splice Variant
Entrez Gene 530761
UniGene
RefSeq XM_005195579 XM_005195580 XM_005219952 XM_005219953
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC149917 DAAA02048312
GenPept AAI49918
RNA Seq Atlas 101905689 530761

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