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
Meckel syndrome, type 1
Meckel syndrome, type 1
Meckel syndrome, type 1
Meckel syndrome, type 1
Protein Structure
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by Hedgehog pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NXB0
TrEMBL F5H5Y8 H0Y2S2 J3KRR3 J3KSB7 J3KSC6 J3QQP4 J9PBQ5
UniProt Splice Variant
Entrez Gene 54903
UniGene Hs.408843
RefSeq NM_001165927 NM_017777 XM_005257484 XM_005257486 XM_006721964
HUGO HGNC:7121
OMIM 609883
CCDS CCDS11603 CCDS54148
HPRD 07900
IMGT
EMBL AC005962 AK000352 AK310815 BC010061 CR457229 DQ185029
GenPept AAH10061 AAZ94714 BAA91105 CAG33510
ImmGen MKS1 (murine)
RNA Seq Atlas 54903