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- Table of Contents
Facts about Protein PTHB1.
This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes expansion of the ciliary membrane.
Human | |
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Gene Name: | BBS9 |
Uniprot: | Q3SYG4 |
Entrez: | 27241 |
Belongs to: |
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No superfamily |
B1; Bardet-Biedl syndrome 9 protein; Bardet-Biedl syndrome 9; C18; D1; Parathyroid hormone-responsive B1 gene protein; protein PTHB1; PTHB1MGC118917; PTH-responsive osteosarcoma B1 protein
Mass (kDA):
99.28 kDA
Human | |
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Location: | 7p14.3 |
Sequence: | 7; NC_000007.14 (33129244..33637238) |
Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
PMID: 10221542 by Adams A.E., et al. Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.
PMID: 12618763 by Vernon E.G., et al. The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.