FLVCR1 Gene Summary [Human]
This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | FLVCR1 |
| Official Name | FLVCR heme transporter 1 [Source:HGNC Symbol;Acc:HGNC:24682] |
| Ensembl ID | ENSG00000162769 |
| Bio databases IDs | |
| Aliases | FLVCR heme transporter 1 |
| Synonyms | 9630055N22Rik, AXPC1, feline leukaemia virus subgroup C cellular receptor 1, feline leukemia virus subgroup C cellular receptor 1, FLVCR, FLVCR choline and heme transporter 1, LOC100909719, MFSD7B, NEDMISH, PCA, PCARP, RETSNS, SLC49A1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FLVCR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- amine/polyamine transporter
- organic cation transporter
- organic alcohol transporter
- Major Facilitator Superfamily
- choline transporter
- protein binding
- heme transporter
- transporter
Pathways
Biological processes and signaling networks where the FLVCR1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- retinal dystrophy
- retinitis pigmentosa
- degenerative disc disease
- hereditary disorder
- hepatocellular carcinoma
- liver cancer
- fundus flavimaculatus
- Jeune syndrome
- posterior column ataxia with retinitis pigmentosa
role in cell
- expression in
- production in
- glycolysis in
- quantity
- proliferation
- differentiation
- mass
- tubulation
- ferroptosis
- tubulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FLVCR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- transmembrane transport
- heme biosynthetic process
- spleen development
- regulation of organ growth
- head morphogenesis
- embryonic skeletal system morphogenesis
- erythrocyte maturation
- embryonic digit morphogenesis
- cellular iron ion homeostasis
- erythrocyte differentiation
- blood vessel development
- mitochondrial transport
- heme export
- in utero embryonic development
- heme transport
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- membrane
- mitochondrial inner membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- heme transporter activity
- heme binding