Protein Family Models

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 [1]. 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 specialised 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 [3]. 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 localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [5]. [1]. 17574030. A core complex of BBS proteins cooperates with the GTPase Rab8. to promote ciliary membrane biogenesis.. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes. A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson. PK;. Cell. 2007;129:1201-1213.. [2]. 19081074. A BBSome subunit links ciliogenesis, microtubule stability, and. acetylation.. Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, . TRUNCATED at 1650 bytes (from Pfam)

Date:

2024-08-14

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 [1]. 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 specialised 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 [3]. 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 localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [5]. [1]. 17574030. A core complex of BBS proteins cooperates with the GTPase Rab8. to promote ciliary membrane biogenesis.. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes. A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson. PK;. Cell. 2007;129:1201-1213.. [2]. 19081074. A BBSome subunit links ciliogenesis, microtubule stability, and. acetylation.. Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, . TRUNCATED at 1650 bytes (from Pfam)

Date:

2024-08-14

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 [1]. 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 specialised 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 [3]. 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 localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [5]. [1]. 17574030. A core complex of BBS proteins cooperates with the GTPase Rab8. to promote ciliary membrane biogenesis.. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes. A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson. PK;. Cell. 2007;129:1201-1213.. [2]. 19081074. A BBSome subunit links ciliogenesis, microtubule stability, and. acetylation.. Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, . TRUNCATED at 1650 bytes (from Pfam)

Date:

2024-08-14

This family consists of several mammalian pro-melanin-concentrating hormone (Pro-MCH) 1 and 2 proteins. Melanin-concentrating hormone (MCH) is a 19 amino acid cyclic peptide that was first isolated from the pituitary of teleost fish. It is produced from pro-MCH that encodes, in addition to MCH, NEI, and a putative peptide, NGE. In lower vertebrates, MCH acts to regulate skin colour by antagonising the melanin-dispersing actions of small alpha, Greek-melanocyte stimulating hormone (small alpha, Greek-MSH). In mammals, MCH serves as a neuropeptide and is found in many regions of the brain and especially the hypothalamus. It affects many types of behaviours such as appetite, sexual receptivity, aggression, and anxiety. MCH also stimulates the release of luteinising hormone [1]. [1]. 12176038. Melanin-concentrating hormone and its receptor are expressed and. functional in human skin.. Hoogduijn MJ, Ancans J, Suzuki I, Estdale S, Thody AJ;. Biochem Biophys Res Commun 2002;296:698-701. (from Pfam)

Date:

2024-08-14