Recombinant Human Feline leukemia virus subgroup C receptor-related protein 1 (FLVCR1), partial

1. Mutation in FLVCR1 gene is associated with Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia. PMID: 28766925
2. Using fibroblasts and lymphoblastoid cell lines from patients with sensory neurodegeneration, we here show that the FLVCR1-mutations reduce heme export activity, enhance oxidative stress and increase sensitivity to programmed cell death. Our data link heme metabolism to sensory neuron maintenance and suggest that intracellular heme overload causes early-onset degeneration of pain-sensing neurons in humans PMID: 27923065
3. RPS19-downregulated erythroleukemia cells show reduced FLVCR1a and FLVCR1b mRNA levels associated with heme overload. PMID: 26058344
4. Data shows that FLVCR1a participates in the control of intestinal mucosa homeostasis by exporting the excess of de novo synthesized heme from intestinal cells. PMID: 26067085
5. Flvcr1 regulates differentiation of erythroid progenitors by controlling intracellular heme accumulation. PMID: 25795718
6. both HIF2alpha and ETS1 are involved in the transcriptional regulation of Flvcr1a and that HIF2alpha is absolutely required for Flvcr1a induction upon hypoxia PMID: 24576667
7. FLVCR1b regulates erythropoiesis by controlling mitochondrial heme efflux, whereas FLVCR1a expression is required to prevent hemorrhages and edema. PMID: 23187127
8. FLVCR1 mutants failed to fold properly in the ER, were rapidly degraded in the lysosomes, and therefore, could not export heme out of cells. Thus, accumulation of heme in FLVCR1-mutant cells could cause cellular toxicity. PMID: 22483575
9. Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. PMID: 22279524
10. Posterior column ataxia with retinitis pigmentosa is caused by mutations in FLVCR1. PMID: 21267618
11. relative protein expression of 2 heme transporters, Feline Leukemia Virus, Subgroup C, Receptor 1 (FLVCR1) and Breast Cancer Resistance Protein, was assessed in placental tissue in relation to maternal/neonatal iron status and placental iron concentration PMID: 21593354
12. These results suggest that aberrant FLVCR1 causes a selective degeneration of a subpopulation of neurons in the retina and the posterior columns of the spinal cord via dysregulation of heme or iron homeostasis. PMID: 21070897
13. hemopexin directly interacts with FLVCR PMID: 20610401
14. the FLVCR gene on 1q31 is not involved in Diamond-Blackfan anemia in families studied PMID: 15996880
15. results suggest that multiple FLVCR1 regions are critical for mediating efficient feline leukemia virus subgroup C (FeLV-C) infection and that these regions are distinct from the FeLV-C envelope binding site PMID: 16439531
16. Alternative splicing of FLVCR1 transcripts and subsequent FLVCR1 insufficiency is an additional contributing factor to the erythropoietic defect observed in Diamond-Blackfan anemia. PMID: 18815190

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HGNC: 24682

OMIM: 609033

KEGG: hsa:28982

STRING: 9606.ENSP00000355938

UniGene: Hs.7055