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Protein Page:
MKS1 (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
MKS1 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. Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1). MKS1 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in MKS1 are the cause of Bardet-Biedl syndrome type 13 (BBS13). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Cellular Component: centrosome; membrane; cytoplasm
Molecular Function: protein binding
Biological Process: branching morphogenesis of a tube; cilium biogenesis
Reference #:  Q9NXB0 (UniProtKB)
Alt. Names/Synonyms: BBS13; FABB proteome-like protein; FLJ20345; Meckel syndrome type 1 protein; Meckel syndrome, type 1; MES; MKS; MKS1; POC12; POC12 centriolar protein homolog
Gene Symbols: MKS1
Molecular weight: 64,528 Da
Basal Isoelectric point: 6.04  Predict pI for various phosphorylation states
Select Structure to View Below

MKS1

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 K178-u GMEGGILkSRIVTWE
0 2 Y221-p KKLGYKKyEHVLCTL
0 1 K239-u SNGVITVkPDFTGLK
0 1 K257-u RIETEGEkQELWKYT
0 1 K285-u ERERRVFkDLYGRHK
0 3 T357-p QLSGVTQtCttKSLA
0 3 T359-p SGVTQtCttKSLAMD
0 3 T360-p GVTQtCttKSLAMDK
0 1 K507-u MESSSLQkRMRSVLD
  mouse

 
K178 GVEGSKLKSRIVTWE
H221 GKLGYKVHEHVLCIL
K239 SNGVITVKPDFTGIK
K257 RIETEGEKQEHTSAW
K288 EREQRVFKDLYGRHK
A360 QLSGVTQACATKSLG
A362 SGVTQACATKSLGMD
T363 GVTQACATKSLGMDK
K510 MESNSLQKQMRSVLD
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