Entity Details

Primary name MKS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NXB0
EntryNameMKS1_HUMAN
FullNameMeckel syndrome type 1 protein
TaxID9606
Evidenceevidence at protein level
Length559
SequenceStatuscomplete
DateCreated2006-03-07
DateModified2021-06-02

Ontological Relatives

GenesMKS1

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0036038 MKS complex
GO:0036064 ciliary basal body
GO:0060271 cilium assembly
GO:0097711 ciliary basal body-plasma membrane docking

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR010796 B9-type C2 domainFamilyFamily

Diseases

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Disease IDSourceNameDescription
617121 OMIMJoubert syndrome 28 (JBTS28)A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
249000 OMIMMeckel syndrome 1 (MKS1)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. The disease is caused by variants affecting the gene represented in this entry.
615990 OMIMBardet-Biedl syndrome 13 (BBS13)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. The disease is caused by variants affecting the gene represented in this entry.