Bardet-Biedl syndrome 2 protein [Homo sapiens]
Protein Classification
BBS2_N and BBS2_C domain-containing protein( domain architecture ID 11236587)
protein containing domains BBS2_N, BBS2_Mid, and BBS2_C
List of domain hits
| Name | Accession | Description | Interval | E-value | |||||||
| BBS2_C | pfam14782 | Ciliary BBSome complex subunit 2, C-terminal; The BBSome (so-named after the association with ... |
276-715 | 0e+00 | |||||||
Ciliary BBSome complex subunit 2, C-terminal; 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: 464315 Cd Length: 430 Bit Score: 727.89 E-value: 0e+00
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| BBS2_N | pfam14781 | Ciliary BBSome complex subunit 2, N-terminal; The BBSome (so-named after the association with ... |
20-126 | 3.69e-61 | |||||||
Ciliary BBSome complex subunit 2, N-terminal; 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: 464314 Cd Length: 107 Bit Score: 200.17 E-value: 3.69e-61
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| BBS2_Mid | pfam14783 | Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association ... |
165-272 | 7.31e-60 | |||||||
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: 196.72 E-value: 7.31e-60
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| Name | Accession | Description | Interval | E-value | |||||||
| BBS2_C | pfam14782 | Ciliary BBSome complex subunit 2, C-terminal; The BBSome (so-named after the association with ... |
276-715 | 0e+00 | |||||||
Ciliary BBSome complex subunit 2, C-terminal; 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: 464315 Cd Length: 430 Bit Score: 727.89 E-value: 0e+00
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| BBS2_N | pfam14781 | Ciliary BBSome complex subunit 2, N-terminal; The BBSome (so-named after the association with ... |
20-126 | 3.69e-61 | |||||||
Ciliary BBSome complex subunit 2, N-terminal; 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: 464314 Cd Length: 107 Bit Score: 200.17 E-value: 3.69e-61
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| BBS2_Mid | pfam14783 | Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association ... |
165-272 | 7.31e-60 | |||||||
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: 196.72 E-value: 7.31e-60
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| POLO_box_1 | cd13118 | First polo-box domain (PBD) of polo-like kinases Plk1, Plk2, Plk3, and Plk5; The polo-like Ser ... |
213-233 | 4.48e-03 | |||||||
First polo-box domain (PBD) of polo-like kinases Plk1, Plk2, Plk3, and Plk5; The polo-like Ser/Thr kinases (Plk1, Plk2/Snk, Plk3/Prk/Fnk, Plk4/Sak, and the inactive kinase Plk5) play various roles in cytokinesis and mitosis. At their C-terminus, they contain a tandemly repeated polo-box domain (in the case of Plk4, a tandem repeat of cryptic PBDs is found in the middle of the protein followed by a C-terminal single repeat), which appears to be involved in autoinhibition and in mediating the subcellular localization. The latter may be controlled via interactions between the polo-box domain and phospho-peptide motifs. The phosphopeptide binding site is formed at the interface between the two tandemly repeated PBDs. The PBDs of Plk4/Sak appear unique in participating in homodimer interactions, though it is not clear whether and how they interact with phosphopeptides. Pssm-ID: 240561 Cd Length: 91 Bit Score: 36.92 E-value: 4.48e-03
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| Name | Accession | Description | Interval | E-value | |||||||
| BBS2_C | pfam14782 | Ciliary BBSome complex subunit 2, C-terminal; The BBSome (so-named after the association with ... |
276-715 | 0e+00 | |||||||
Ciliary BBSome complex subunit 2, C-terminal; 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: 464315 Cd Length: 430 Bit Score: 727.89 E-value: 0e+00
|
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| BBS2_N | pfam14781 | Ciliary BBSome complex subunit 2, N-terminal; The BBSome (so-named after the association with ... |
20-126 | 3.69e-61 | |||||||
Ciliary BBSome complex subunit 2, N-terminal; 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: 464314 Cd Length: 107 Bit Score: 200.17 E-value: 3.69e-61
|
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| BBS2_Mid | pfam14783 | Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association ... |
165-272 | 7.31e-60 | |||||||
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: 196.72 E-value: 7.31e-60
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| POLO_box_1 | cd13118 | First polo-box domain (PBD) of polo-like kinases Plk1, Plk2, Plk3, and Plk5; The polo-like Ser ... |
213-233 | 4.48e-03 | |||||||
First polo-box domain (PBD) of polo-like kinases Plk1, Plk2, Plk3, and Plk5; The polo-like Ser/Thr kinases (Plk1, Plk2/Snk, Plk3/Prk/Fnk, Plk4/Sak, and the inactive kinase Plk5) play various roles in cytokinesis and mitosis. At their C-terminus, they contain a tandemly repeated polo-box domain (in the case of Plk4, a tandem repeat of cryptic PBDs is found in the middle of the protein followed by a C-terminal single repeat), which appears to be involved in autoinhibition and in mediating the subcellular localization. The latter may be controlled via interactions between the polo-box domain and phospho-peptide motifs. The phosphopeptide binding site is formed at the interface between the two tandemly repeated PBDs. The PBDs of Plk4/Sak appear unique in participating in homodimer interactions, though it is not clear whether and how they interact with phosphopeptides. Pssm-ID: 240561 Cd Length: 91 Bit Score: 36.92 E-value: 4.48e-03
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