InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MKS1

Summary

InnateDB Protein

IDBP-244261.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MKS1

Protein Name

Meckel syndrome, type 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000376827

InnateDB Gene

IDBG-60797 (MKS1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:17185389, ECO:0000269PubMed:19515853}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Disease Associations

Meckel syndrome 1 (MKS1) [MIM:249000]: A 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. {ECO:0000269PubMed:16415886, ECO:0000269PubMed:19466712}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bardet-Biedl syndrome 13 (BBS13) [MIM:209900]: A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	33 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0042384	cilium assembly
GO:0048754	branching morphogenesis of an epithelial tube
GO:0060271	cilium morphogenesis

Cellular Component

GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005814	centriole
GO:0016020	membrane
GO:0035869	ciliary transition zone
GO:0036038	TCTN-B9D complex
GO:0036064	ciliary basal body