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Protein Page:
MKS1 (human)

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
Chromosomal Location of Human Ortholog: 17q22
Cellular Component: centrosome; cytoplasm; cytosol
Molecular Function: protein binding
Biological Process: cilium biogenesis
Disease: Bardet-biedl Syndrome 13; Meckel Syndrome, Type 1
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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