This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Function:
Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25 (By similarity).
Subunit:
Component of the IFT complex B, at least composed of IFT20, IFT25/HSPB11, IFT27, IFT52, IFT57, IFT74, IFT81, IFT88 and TRAF3IP1. Interacts with IFT25; the interaction is direct. Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP (By similarity). Interacts with ARL6; recognizes and binds with the GTP-free form of ARL6.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Similarity:
Belongs to the small GTPase superfamily. Rab family.
SWISS:
Q9BW83
Gene ID:
11020
Database links:
Entrez Gene: 11020 Human
SwissProt: Q9BW83 Human
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