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Conserved domains on  [gi|1007892858|ref|NP_001308198|]
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tectonic-like complex member MKS1 isoform 4 [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

Gene Ontology:  GO:0060271

Graphical summary

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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 ...
 313-458 3.58e-51

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: 172.74  E-value: 3.58e-51
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1007892858 313 LFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAfQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAfflhedeSSDALP 392
Cdd:pfam07162   1 LHVIGQIESAEGFPYDNLFCKYELVLGP-DWKLVS-GLLEGQTQTSRPSSDERSNVAVWNHPFDVHF-------KSTNPQ 71

                          90       100       110       120       130       140
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*.
gi 1007892858 393 EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELED 458
Cdd:pfam07162  72 GWPQLVFEVYSLDSWGRDRVEGYGFVHLPTTPGSHTLEVPTWRPLGSSLLQELRSFFLGGSPELED 137
 
Name Accession Description Interval E-value
B9-C2 pfam07162
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ...
 313-458 3.58e-51

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: 172.74  E-value: 3.58e-51
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1007892858 313 LFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAfQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAfflhedeSSDALP 392
Cdd:pfam07162   1 LHVIGQIESAEGFPYDNLFCKYELVLGP-DWKLVS-GLLEGQTQTSRPSSDERSNVAVWNHPFDVHF-------KSTNPQ 71

                          90       100       110       120       130       140
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*.
gi 1007892858 393 EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELED 458
Cdd:pfam07162  72 GWPQLVFEVYSLDSWGRDRVEGYGFVHLPTTPGSHTLEVPTWRPLGSSLLQELRSFFLGGSPELED 137
 
Name Accession Description Interval E-value
B9-C2 pfam07162
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ...
 313-458 3.58e-51

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: 172.74  E-value: 3.58e-51
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1007892858 313 LFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAfQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAfflhedeSSDALP 392
Cdd:pfam07162   1 LHVIGQIESAEGFPYDNLFCKYELVLGP-DWKLVS-GLLEGQTQTSRPSSDERSNVAVWNHPFDVHF-------KSTNPQ 71

                          90       100       110       120       130       140
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*.
gi 1007892858 393 EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELED 458
Cdd:pfam07162  72 GWPQLVFEVYSLDSWGRDRVEGYGFVHLPTTPGSHTLEVPTWRPLGSSLLQELRSFFLGGSPELED 137
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.21
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Wang J et al. (2023), "The conserved domain database in 2023", Nucleic Acids Res.51(D)384-8.
  • Lu S et al. (2020), "The conserved domain database in 2020", Nucleic Acids Res.48(D)265-8.
  • Marchler-Bauer A et al. (2017), "CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.", Nucleic Acids Res.45(D)200-3.
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