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Conserved domains on  [gi|767995171|ref|XP_011523262|]
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tectonic-like complex member MKS1 isoform X3 [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
PubMed:  32726168
TCDB:  8.A.170

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 ...
 316-427 1.37e-32

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: 121.12  E-value: 1.37e-32
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 767995171  316 LFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAfQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAfflhedeSSDALP 395
Cdd:pfam07162   1 LHVIGQIESAEGFPYDNLFCKYELVLGP-DWKLVS-GLLEGQTQTSRPSSDERSNVAVWNHPFDVHF-------KSTNPQ 71

                          90       100       110
                  ....*....|....*....|....*....|..
gi 767995171  396 EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATP 427
Cdd:pfam07162  72 GWPQLVFEVYSLDSWGRDRVEGYGFVHLPTTP 103
 
Name Accession Description Interval E-value
B9-C2 pfam07162
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ...
 316-427 1.37e-32

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: 121.12  E-value: 1.37e-32
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 767995171  316 LFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAfQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAfflhedeSSDALP 395
Cdd:pfam07162   1 LHVIGQIESAEGFPYDNLFCKYELVLGP-DWKLVS-GLLEGQTQTSRPSSDERSNVAVWNHPFDVHF-------KSTNPQ 71

                          90       100       110
                  ....*....|....*....|....*....|..
gi 767995171  396 EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATP 427
Cdd:pfam07162  72 GWPQLVFEVYSLDSWGRDRVEGYGFVHLPTTP 103
 
Name Accession Description Interval E-value
B9-C2 pfam07162
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ...
 316-427 1.37e-32

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: 121.12  E-value: 1.37e-32
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 767995171  316 LFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAfQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAfflhedeSSDALP 395
Cdd:pfam07162   1 LHVIGQIESAEGFPYDNLFCKYELVLGP-DWKLVS-GLLEGQTQTSRPSSDERSNVAVWNHPFDVHF-------KSTNPQ 71

                          90       100       110
                  ....*....|....*....|....*....|..
gi 767995171  396 EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATP 427
Cdd:pfam07162  72 GWPQLVFEVYSLDSWGRDRVEGYGFVHLPTTP 103
 
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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