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MGP005342

UniProt Annotations

Entry Information
Gene NameMeckel syndrome, type 1
Protein EntryMKS1_HUMAN
UniProt IDQ9NXB0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NXB0-1; Sequence=Displayed; Name=2; IsoId=Q9NXB0-2; Sequence=VSP_017414; Note=No experimental confirmation available.; Name=3; IsoId=Q9NXB0-3; Sequence=VSP_046063; Note=No experimental confirmation available.;
DiseaseBardet-Biedl syndrome 13 (BBS13) [MIM:615990]: 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:0000269|PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMeckel 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:0000269|PubMed:16415886, ECO:0000269|PubMed:19466712}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionComponent 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:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853}.
Sequence CautionSequence=AAH10061.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91105.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityContains 1 B9 domain. {ECO:0000255|PROSITE- ProRule:PRU00713}.
Subcellular LocationCytoplasm, 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}.
SubunitPart of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1 (By similarity). Interacts with FLNA. {ECO:0000250, ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:22121117}.
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