UniProt ID: F1QC45 |
FUNCTION: Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane (By similarity). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization (By similarity). In the retina, required for maintenance of rod and cone photoreceptor cells (PubMed:26034134). May have a role in normal retinal localization of the transducins GNB1 and GNAT1, and the rhodopsin kinase GRK1 (PubMed:26034134). {ECO:0000250|UniProtKB:O75695, ECO:0000269|PubMed:26034134}. SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26034134}; Lipid-anchor {ECO:0000250|UniProtKB:O75695}; Cytoplasmic side {ECO:0000250|UniProtKB:O75695}. Cell projection, cilium {ECO:0000250|UniProtKB:O75695}. TISSUE SPECIFICITY: In the retina, detected in both rod and cone photoreceptors (at protein level) (PubMed:21282572, PubMed:26034134). Has strongest expression in the retinal outer nuclear layer (ONL) and weaker expression in the outer plexiform layer (OPL) and inner plexiform layer (IPL) (at protein level) (PubMed:26034134). Expressed in all tissues tested (PubMed:21282572). {ECO:0000269|PubMed:21282572, ECO:0000269|PubMed:26034134}. DEVELOPMENTAL STAGE: Expressed throughout development. {ECO:0000269|PubMed:21282572}. PTM: Myristoylated on Gly-2; which may be required for membrane targeting. {ECO:0000250|UniProtKB:O75695}. PTM: Palmitoylated on Cys-3; which may be required for plasma membrane targeting. {ECO:0000250|UniProtKB:O75695}. DISRUPTION PHENOTYPE: Viable and fertile. Early retinal development appears to be grossly normal. Outer segments of rod and cone photoreceptors show progressive degeneration from 2 months of age, with rod cells more severely affected in the early stages. {ECO:0000269|PubMed:26034134}. SIMILARITY: Belongs to the TBCC family. {ECO:0000305}. SEQUENCE CAUTION: Sequence=AAH46879.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAI64845.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin at the N terminus.; Evidence={ECO:0000305}; |
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