FLVCR1 (FLVCR Heme Transporter 1): Genetics, Function, and Clinical Significance
A comprehensive biomedical overview of FLVCR1, including gene structure, expression, mutations, and associated diseases, based on authoritative genomic and clinical databases.
Gene Information Card
| Symbol | FLVCR1 |
|---|---|
| Full Name | FLVCR heme transporter 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 28982 ncbi.nlm.nih.gov/gene/28982 |
| Ensembl ID | ENSG00000074181 |
| UniProt ID | Q9Y5Q0 |
| OMIM ID | 609144 |
| HGNC ID | 3785 |
| Aliases | FLVCR, MFSD7B, PCA, SLC49A1 |
Description
FLVCR1 encodes a member of the major facilitator superfamily of transporter proteins. It functions as a heme exporter, playing a critical role in cellular heme homeostasis and erythropoiesis. The protein is localized to the plasma membrane and is involved in the export of heme from cells, protecting them from heme toxicity. Mutations in FLVCR1 are associated with posterior column ataxia with retinitis pigmentosa (PCARP) and other neurological and hematological disorders. The gene is expressed in various tissues, with high levels in the bone marrow and fetal liver, reflecting its role in erythropoiesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Posterior column ataxia with retinitis pigmentosa (PCARP) | Loss-of-function mutations in FLVCR1 impair heme export, leading to cellular heme accumulation and oxidative stress, particularly affecting retinal and neuronal cells. | ClinVar, OMIM |
| Diamond-Blackfan anemia (DBA) | Rare variants in FLVCR1 have been implicated in DBA, a disorder of erythroid differentiation, likely due to disrupted heme transport during erythropoiesis. | ClinVar, literature |
| Hereditary spastic paraplegia (HSP) | Some FLVCR1 mutations have been reported in patients with HSP, suggesting a role in axonal degeneration, possibly via heme-mediated toxicity. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 25.3 | High |
| Liver | 18.7 | High |
| Spleen | 12.4 | Medium |
| Kidney | 8.9 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (erythroleukemia) | 45.6 | High expression; relevant to erythroid function |
| HepG2 (liver) | 22.3 | Moderate expression |
| HeLa (cervical) | 6.7 | Low expression |
| A549 (lung) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1092C>A (p.Tyr364*) | Nonsense | Rare | Loss of function; associated with PCARP |
| c.1534C>T (p.Arg512Trp) | Missense | Rare | Likely loss of function; reported in PCARP |
| c.1195G>A (p.Gly399Arg) | Missense | Rare | Uncertain significance; possibly damaging |
| c.1477C>T (p.Arg493Cys) | Missense | Rare | Reported in hereditary spastic paraplegia |
Mutation functional classification
Loss of Function (LOF)
Most FLVCR1 mutations associated with disease are loss-of-function, leading to reduced heme export and cellular heme accumulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FLVCR1.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • heme transmembrane transporter activity | • heme export |
| • plasma membrane | • integral component of membrane |
| • response to heme | • erythrocyte differentiation |
Pathways
• Heme metabolism
• Erythropoiesis
• Iron metabolism
Protein Summary
The FLVCR1 protein is a 557-amino acid transmembrane transporter with 12 predicted transmembrane domains. It belongs to the major facilitator superfamily and functions as a heme exporter. The protein is essential for erythropoiesis, as it exports heme from erythroid progenitors to prevent toxicity. It also plays a role in protecting cells from heme-induced oxidative damage. Structural studies suggest a typical MFS fold with a central substrate translocation pathway. Post-translational modifications include glycosylation, which may affect stability or trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLVCR1 Knockout HEK293 Cell Line | EDJ-KQ8951 | Human | 28982 | Details Get a Quote |
| FLVCR1 Knockout HeLa Cell Line | EDJ-KQ34092 | Human | 28982 | Details Get a Quote |
| FLVCR1 Knockout A-549 Cell Line | EDJ-KQ35325 | Human | 28982 | Details Get a Quote |
| FLVCR1 Knockout HCT 116 Cell Line | EDJ-KQ35326 | Human | 28982 | Details Get a Quote |
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