tectonic-like complex member MKS1 isoform 1 [Homo sapiens]
Protein Classification
B9 domain-containing protein( domain architecture ID 10537456)
B9 domain-containing protein may be a component of the tectonic-like complex, which is localized at the transition zone of primary cilia, acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes
List of domain hits
| Name | Accession | Description | Interval | E-value | ||||
| B9-C2 | pfam07162 | Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ... |
313-493 | 8.59e-62 | ||||
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated with the ciliary basal body. B9 domains were identified as a specific family of C2 domains. There are three sub-families represented by this family, notably, Mks1-Xbx7, Stumpy-Tza1 and Tza2 groups of proteins. Mutations in human Mks1 result in the developmental disorder Mechler-Gruber syndrome; mutations in mouse Stumpy lead to perinatal hydrocephalus and severe polycystic kidney disease. All the three distinct types of B9-C2 proteins cooperatively localize to the basal body or centrosome of cilia. : Pssm-ID: 462108 Cd Length: 165 Bit Score: 200.86 E-value: 8.59e-62
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| Name | Accession | Description | Interval | E-value | ||||
| B9-C2 | pfam07162 | Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ... |
313-493 | 8.59e-62 | ||||
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated with the ciliary basal body. B9 domains were identified as a specific family of C2 domains. There are three sub-families represented by this family, notably, Mks1-Xbx7, Stumpy-Tza1 and Tza2 groups of proteins. Mutations in human Mks1 result in the developmental disorder Mechler-Gruber syndrome; mutations in mouse Stumpy lead to perinatal hydrocephalus and severe polycystic kidney disease. All the three distinct types of B9-C2 proteins cooperatively localize to the basal body or centrosome of cilia. Pssm-ID: 462108 Cd Length: 165 Bit Score: 200.86 E-value: 8.59e-62
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| Name | Accession | Description | Interval | E-value | ||||
| B9-C2 | pfam07162 | Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ... |
313-493 | 8.59e-62 | ||||
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated with the ciliary basal body. B9 domains were identified as a specific family of C2 domains. There are three sub-families represented by this family, notably, Mks1-Xbx7, Stumpy-Tza1 and Tza2 groups of proteins. Mutations in human Mks1 result in the developmental disorder Mechler-Gruber syndrome; mutations in mouse Stumpy lead to perinatal hydrocephalus and severe polycystic kidney disease. All the three distinct types of B9-C2 proteins cooperatively localize to the basal body or centrosome of cilia. Pssm-ID: 462108 Cd Length: 165 Bit Score: 200.86 E-value: 8.59e-62
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