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Conserved domains on  [gi|530412471|ref|XP_005257542|]
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PREDICTED: Meckel syndrome type 1 protein isoform X4 [Homo sapiens]

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 ...
169-329 1.29e-57

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: 254085  Cd Length: 165  Bit Score: 188.19  E-value: 1.29e-57
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 530412471  169 RLFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAFQQlSGVTQTCTTKSlaMDKVAHFSYPFTFEAFFlhedessDAL 248
Cdd:pfam07162   1 RLHVIGEIEGAEGFEEDNLFCRYQLVAGP-DWKLVSGLT-SGQTQTARSGG--NDDVAVFNHPFDLHLKT-------TSP 69
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 530412471  249 PEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGL 328
Cdd:pfam07162  70 FGWPQLVVTVWSLDSWGRERLEGYGACHLPTTPGTHELRVPTWRPVSGSWVEKLRSFFIGGGPELRDPKLIASGLDRFGL 149

                  .
gi 530412471  329 H 329
Cdd:pfam07162 150 R 150
 
Name Accession Description Interval E-value
B9-C2 pfam07162
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ...
169-329 1.29e-57

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: 254085  Cd Length: 165  Bit Score: 188.19  E-value: 1.29e-57
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 530412471  169 RLFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAFQQlSGVTQTCTTKSlaMDKVAHFSYPFTFEAFFlhedessDAL 248
Cdd:pfam07162   1 RLHVIGEIEGAEGFEEDNLFCRYQLVAGP-DWKLVSGLT-SGQTQTARSGG--NDDVAVFNHPFDLHLKT-------TSP 69
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 530412471  249 PEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGL 328
Cdd:pfam07162  70 FGWPQLVVTVWSLDSWGRERLEGYGACHLPTTPGTHELRVPTWRPVSGSWVEKLRSFFIGGGPELRDPKLIASGLDRFGL 149

                  .
gi 530412471  329 H 329
Cdd:pfam07162 150 R 150
 
Name Accession Description Interval E-value
B9-C2 pfam07162
Ciliary basal body-associated, B9 protein; The B9-C2 domain is found in proteins associated ...
169-329 1.29e-57

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: 254085  Cd Length: 165  Bit Score: 188.19  E-value: 1.29e-57
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 530412471  169 RLFVNGEVVSAQGYEYDNLYVHFFVELPTaHWSSPAFQQlSGVTQTCTTKSlaMDKVAHFSYPFTFEAFFlhedessDAL 248
Cdd:pfam07162   1 RLHVIGEIEGAEGFEEDNLFCRYQLVAGP-DWKLVSGLT-SGQTQTARSGG--NDDVAVFNHPFDLHLKT-------TSP 69
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 530412471  249 PEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGL 328
Cdd:pfam07162  70 FGWPQLVVTVWSLDSWGRERLEGYGACHLPTTPGTHELRVPTWRPVSGSWVEKLRSFFIGGGPELRDPKLIASGLDRFGL 149

                  .
gi 530412471  329 H 329
Cdd:pfam07162 150 R 150
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.11
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Marchler-Bauer A et al. (2011), "CDD: a Conserved Domain Database for the functional annotation of proteins.", Nucleic Acids Res.39(D)225-9.
  • Marchler-Bauer A et al. (2009), "CDD: specific functional annotation with the Conserved Domain Database.", Nucleic Acids Res.37(D)205-10.
  • Marchler-Bauer A, Bryant SH (2004), "CD-Search: protein domain annotations on the fly.", Nucleic Acids Res.32(W)327-331.
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