NP_001308198.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
63,344 Da
NCBI Official Full Name
Meckel syndrome type 1 protein isoform 4
NCBI Official Synonym Full Names
Meckel syndrome, type 1
NCBI Protein Information
Meckel syndrome type 1 protein
UniProt Protein Name
Meckel syndrome type 1 protein
UniProt Entry Name
MKS1_HUMAN
NCBI Summary for MKS1
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]
UniProt Comments for MKS1
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.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 17q22
Cellular Component: centriole; centrosome; cytoplasm; cytosol; membrane
Molecular Function: protein binding
Biological Process: branching morphogenesis of a tube; cilium biogenesis; determination of left/right symmetry; embryonic digit morphogenesis; embryonic skeletal development; inner ear receptor stereocilium organization and biogenesis; neural tube closure; sensory cilium biogenesis
Disease: Bardet-biedl Syndrome 13; Meckel Syndrome, Type 1
Research Articles on MKS1
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Pathways associated with anti-MKS1 antibody
Diseases associated with anti-MKS1 antibody
Organs/Tissues associated with anti-MKS1 antibody
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