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Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).
FLVCR1 was initially identified as a cell-surface attachment site for feline leukemia virus subgroup C [11], and later identified as a cell surface accumulation which exports heme from the cytosol [7]. A recent study indicates that an isoform of FLVCR1 is located in the mitochondria, the site of the final steps of heme synthesis, and appears to transport heme into the cytosol [2]. FLVCR-mediated heme transport is essential for erythropoiesis. Flvcr1 gene mutations have been identified as the cause of PCARP (posterior column ataxia with retinitis pigmentosa (PCARP) [8].There are three paralogs of FLVCR1 in the human genome.
FLVCR2, most similar to FLVCR1 [4], has been reported to function as a heme importer [3], although biochemical and molecular evidence to support this function is elusive. In addition, a congenital syndrome of proliferative vasculopathy and hydranencephaly, also known as Fowler's syndrome, is associated with a loss-of-function mutation in FLVCR2 [5].
FLVCR1 and FLVCR2 have been shown to mediate choline and ethanolamine influx into cells [10].
The functions of the other two members of the SLC49 family, MFSD7 and DIRC2, are unknown, although DIRC2 has been implicated in hereditary renal carcinomas [1].
FLVCR1 (Feline leukemia virus subgroup C cellular receptor family, member 1 / SLC49A1) C Show summary » |
FLVCR2 (Feline leukemia virus subgroup C cellular receptor family, member 2 / SLC49A2) C Show summary » |
MFSD7 (Major facilitator superfamily domain containing 7 / SLC49A3) Show summary » |
DIRC2 (Disrupted in renal carcinoma 2 / SLC49A4) Show summary » |
Database page citation:
SLC49 family of FLVCR-related heme transporters. Accessed on 09/11/2024. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=335.
Concise Guide to PHARMACOLOGY citation:
Alexander SPH, Fabbro D, Kelly E, Mathie AA, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Davies JA et al. (2023) The Concise Guide to PHARMACOLOGY 2023/24: Transporters. Br J Pharmacol. 180 Suppl 2:S374-469.
Non-functional splice alternatives of FLVCR1 have been implicated as a cause of a congenital red cell aplasia, Diamond Blackfan anemia [9].