Homo sapiens Gene: MKS1

Summary
InnateDB Gene IDBG-60797.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol MKS1
Gene Name Meckel syndrome, type 1
Synonyms BBS13; MES; MKS; POC12
Species Homo sapiens
Ensembl Gene ENSG00000011143
Encoded Proteins
IDBP-60799 Meckel syndrome, type 1
IDBP-60801 Meckel syndrome, type 1
IDBP-244259 Meckel syndrome, type 1
IDBP-244261 Meckel syndrome, type 1
IDBP-587767 Meckel syndrome, type 1
IDBP-598989 Meckel syndrome, type 1
IDBP-760507
IDBP-759372
IDBP-764027
IDBP-761274
IDBP-759880
IDBP-759181
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: 56282803-56296966
Strand Reverse strand
Band q22
Transcripts
ENST00000313863  ENSP00000316631
ENST00000337050  ENSP00000338407
ENST00000393120  ENSP00000376828
ENST00000393119  ENSP00000376827
ENST00000537529  ENSP00000442096
ENST00000546108  ENSP00000443012
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 4 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein‑Protein  4
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total 33 [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005515 protein binding
Biological Process
GO:0042384 cilium assembly
GO:0048754 branching morphogenesis of a tube
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005932 microtubule basal body
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000034121 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000034963 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NXB0 
TrEMBL A8MPP8 F5H5Y8 F5H885 H0Y2S2 J3KRR3 J3KSB7 J3KSC6 J3QQP4 J9PBQ5
UniProt Splice Variant
Entrez Gene 54903 
UniGene Hs.408843
RefSeq NM_001165927  NM_017777 
HUGO 7121 
OMIM 609883
CCDS CCDS11603  CCDS54148 
HPRD 07900
IMGT
EMBL AC005962 AK000352 BC010061 CR457229 DQ185029
GenPept AAH10061  AAZ94714  BAA91105  CAG33510 
ImmGen MKS1 (murine) 
RNA Seq Atlas 54903