2.A.1.28.1
Cell surface receptor (C-receptor) for anemia-inducing feline leukemia virus subgroup C (FLCVR, Slc49A1 or Mfsd7d) of 555 aas and 12 TMSs. It may function in choline transport (Kenny et al. 2023) or haem export in haemopoietic cells (Latunde-Dada et al., 2006; Khan and Quigley, 2011) and may cause Diamond-Blackfan anemia when defective (Keel et al., 2008). Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity (Yanatori et al., 2012). Heme accumulation causes toxicity (Khan and Quigley 2018).  FLVCR1 is co-induced upon iron insufficiency in the placenta with the LDL receptor-related protein 1 (LRP1) heme receptor, and these two proteins may be important for neonatal iron status (Cao et al. 2014).  FLVCR1 is required for erythroid and αβ-, CD4 and CD8 T- cell development (Philip et al. 2015). A splice-site variant of FLVCR1 produces retinitis pigmentosa without posterior column ataxia (Yusuf et al. 2018). Protocols suitable for purification of FLVCR1a, antibody generation and structural characterization of the transporter have been reported (Chiabrando et al. 2020). FLVCR1-related disease is a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy (Grudzinska Pechhacker et al. 2020). More recently, integrative genetic analyses identified FLVCR1 as a plasma-membrane choline transporter in mammals (Kenny et al. 2023). Heme allocation in eukaryotic cells relies on mitochondrial heme export through FLVCR1b to cytosolic GAPDH (Jayaram et al. 2024).