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Conserved domains on  [gi|1907152186|ref|XP_036019223|]
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Bardet-Biedl syndrome 7 protein homolog isoform X2 [Mus musculus]

Protein Classification

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
BBS2_Mid super family cl47183
Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association ...
 59-155 1.36e-04

Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.


The actual alignment was detected with superfamily member pfam14783:

Pssm-ID: 405473 [Multi-domain]  Cd Length: 108  Bit Score: 41.48  E-value: 1.36e-04
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1907152186  59 LRVLQGSDVMYEIEVPGPPTVLAlhngdgGDSGEGLLFGTSDGRLGLIQITTskpiHKWEIRNDKKrggILCVDSFDIMG 138
Cdd:pfam14783  24 IRVFKGDEIVFEFTETEKVTSLA------TLSGSRFAYALENGTVGVYDKKQ----RLWRIKSKNQ---ITALAAYDING 90

                          90
                  ....*....|....*..
gi 1907152186 139 DGVKDLLVGRDDGMVEV 155
Cdd:pfam14783  91 DGVKELIVGWSNGKVDA 107
 
Name Accession Description Interval E-value
BBS2_Mid pfam14783
Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association ...
 59-155 1.36e-04

Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.


Pssm-ID: 405473 [Multi-domain]  Cd Length: 108  Bit Score: 41.48  E-value: 1.36e-04
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1907152186  59 LRVLQGSDVMYEIEVPGPPTVLAlhngdgGDSGEGLLFGTSDGRLGLIQITTskpiHKWEIRNDKKrggILCVDSFDIMG 138
Cdd:pfam14783  24 IRVFKGDEIVFEFTETEKVTSLA------TLSGSRFAYALENGTVGVYDKKQ----RLWRIKSKNQ---ITALAAYDING 90

                          90
                  ....*....|....*..
gi 1907152186 139 DGVKDLLVGRDDGMVEV 155
Cdd:pfam14783  91 DGVKELIVGWSNGKVDA 107
 
Name Accession Description Interval E-value
BBS2_Mid pfam14783
Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association ...
 59-155 1.36e-04

Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.


Pssm-ID: 405473 [Multi-domain]  Cd Length: 108  Bit Score: 41.48  E-value: 1.36e-04
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1907152186  59 LRVLQGSDVMYEIEVPGPPTVLAlhngdgGDSGEGLLFGTSDGRLGLIQITTskpiHKWEIRNDKKrggILCVDSFDIMG 138
Cdd:pfam14783  24 IRVFKGDEIVFEFTETEKVTSLA------TLSGSRFAYALENGTVGVYDKKQ----RLWRIKSKNQ---ITALAAYDING 90

                          90
                  ....*....|....*..
gi 1907152186 139 DGVKDLLVGRDDGMVEV 155
Cdd:pfam14783  91 DGVKELIVGWSNGKVDA 107
 
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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