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GAS8
Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker. Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning. Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by faciltating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner. Belongs to the DRC4 family. Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas, liver, brain, trachea and lung. Weakly or not expressed in placenta and kidney (PubMed:9790751). 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Cytoskeletal |
| Chromosomal Location of human Ortholog: 16q24.3 |
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Cellular Component:
axoneme; ciliary basal body; cilium; cytosol; extracellular region; Golgi apparatus; microtubule; motile cilium; plasma membrane; sperm flagellum
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Molecular Function:
microtubule binding; protein binding; small GTPase binding
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Biological Process:
axoneme assembly; brain development; cilium movement involved in cell motility; determination of left/right symmetry; epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; flagellated sperm motility; negative regulation of cell population proliferation; positive regulation of protein localization to cilium; positive regulation of smoothened signaling pathway; protein localization; regulation of microtubule binding
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Disease: Ciliary Dyskinesia, Primary, 33
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Reference #:
O95995
(UniProtKB)
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Alt. Names/Synonyms: CILD33; DRC4; Dynein regulatory complex subunit 4; epididymis secretory sperm binding protein; GAS-11; GAS-8; GAS11; GAS8; growth arrest specific 11; growth arrest specific 8; growth arrest-specific 11; growth arrest-specific 8; Growth arrest-specific protein 11; Growth arrest-specific protein 8; MGC138326
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Gene Symbols: GAS8
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Molecular weight:
56,356 Da
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Basal Isoelectric point:
7.72
Predict pI for various phosphorylation states
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