| Gene Symbol | ARL6 |
|---|---|
| Entrez Gene | 84100 |
| Alt Symbol | BBS3, RP55 |
| Species | Human |
| Gene Type | protein-coding |
| Description | ADP-ribosylation factor-like 6 |
| Other Description | ADP-ribosylation factor-like protein 6|Bardet-Biedl syndrome 3 protein |
| Swissprots | Q9H0F7 D3DN31 A8KA93 |
| Accessions | EAW79880 EAW79881 EAW79882 EAW79883 EAW79884 Q9H0F7 AK292958 BAF85647 AK310829 AK311281 AL136815 CAB66749 AL138043 AM392662 CAL37540 AM393355 CAL38233 BC024239 AAH24239 BG722744 BM705017 BU183949 BU607306 DC323603 XM_006713779 XP_006713842 XM_006713783 XP_006713846 XM_011513230 XP_011511532 XR_924184 XR_924185 XR_924186 XR_924187 XR_924188 XR_924189 NM_001278293 NP_001265222 NM_032146 NP_115522 NM_177976 NP_816931 NR_103511 |
| Function | Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity). {ECO:0000250|UniProtKB:O88848, ECO:0000269|PubMed:20207729, ECO:0000269|PubMed:20603001, ECO:0000269|PubMed:22072986}. |
| Subcellular Location | Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane. |