Gene

FOLR1

Species
Homo sapiens
Symbol
FOLR1
Name
folate receptor alpha
Synonyms
  • adult folate-binding protein
  • FBP
Biotype
protein coding gene
Automated Description
Enables folic acid binding activity and folic acid receptor activity. Involved in cellular response to folic acid and folic acid transport. Located in apical plasma membrane; basolateral plasma membrane; and external side of plasma membrane. Part of nucleus. Implicated in cerebral folate receptor alpha deficiency.
RGD Description
The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10517
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          FOLR1 molecule type
          Interactor gene
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            Genetic Interactions

            FOLR1 role
            FOLR1 genetic perturbation
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