CPLM 1.0 - Compendium of Protein Lysine Modification
TagContent
CPLM ID CPLM-022323
UniProt Accession
Genbank Protein ID
Genbank Nucleotide ID
Protein Name
 Meckel syndrome type 1 protein 
Protein Synonyms/Alias
  
Gene Name
 MKS1 
Gene Synonyms/Alias
  
Created Date
 July 27, 2013 
Organism
 Homo sapiens (Human) 
NCBI Taxa ID
 9606 
Lysine Modification
Position
Peptide
Type
References
113QYRQEILKLENSGGKubiquitination[1]
178GMEGGILKSRIVTWEubiquitination[1, 2]
215ADLGPYKKLGYKKYEubiquitination[1]
220YKKLGYKKYEHVLCTubiquitination[1]
239SNGVITVKPDFTGLKubiquitination[1, 2]
246KPDFTGLKGPYRIETubiquitination[1]
257RIETEGEKQELWKYTubiquitination[1, 2]
262GEKQELWKYTIDNVSubiquitination[1]
285ERERRVFKDLYGRHKubiquitination[1, 2]
292KDLYGRHKEYLSSLVubiquitination[1]
469VRIPGSFKGERLSRFubiquitination[1]
507MESSSLQKRMRSVLDubiquitination[1, 2]
Reference
 [1] Refined preparation and use of anti-diglycine remnant (K-ε-GG) antibody enables routine quantification of 10,000s of ubiquitination sites in single proteomics experiments.
 Udeshi ND, Svinkina T, Mertins P, Kuhn E, Mani DR, Qiao JW, Carr SA.
 Mol Cell Proteomics. 2013 Mar;12(3):825-31. [PMID: 23266961]
 [2] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 
Functional Description
 Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. 
Sequence Annotation
 DOMAIN 311 439 B9.  
Keyword
 Alternative splicing; Bardet-Biedl syndrome; Cell projection; Ciliopathy; Cilium; Cilium biogenesis/degradation; Complete proteome; Cytoplasm; Cytoskeleton; Disease mutation; Meckel syndrome; Mental retardation; Obesity; Polymorphism; Reference proteome. 
Sequence Source
 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 
Protein Length
 559 AA 
Protein Sequence
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ 60
PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK 120
KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR 180
IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP 240
DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG 300
TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT 360
KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL 420
PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT 480
ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ 540
EARESLPQDL VSPSGTLVS 559 
Gene Ontology
 GO:0005813; C:centrosome; IDA:UniProtKB.
 GO:0005737; C:cytoplasm; IDA:UniProtKB.
 GO:0005932; C:microtubule basal body; IDA:UniProtKB.
 GO:0036038; C:TCTN-B9D complex; ISS:UniProtKB.
 GO:0048754; P:branching morphogenesis of an epithelial tube; IEA:Compara.
 GO:0042384; P:cilium assembly; IMP:UniProtKB. 
Interpro
 IPR010796; B9_dom. 
Pfam
 PF07162; B9-C2 
SMART
  
PROSITE
 PS51381; B9 
PRINTS