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    FOLR1 folate receptor 1 [ Homo sapiens (human) ]

    Gene ID: 2348, updated on 15-Apr-2019

    Summary

    Official Symbol
    FOLR1provided by HGNC
    Official Full Name
    folate receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:3791
    See related
    Ensembl:ENSG00000110195 MIM:136430
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FBP; FOLR
    Summary
    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]
    Expression
    Biased expression in lung (RPKM 83.5), kidney (RPKM 59.8) and 4 other tissues See more
    Orthologs

    Genomic context

    See FOLR1 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (72189558..72196323)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71900602..71907367)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene folate receptor 1 pseudogene 1 Neighboring gene folate receptor 3 pseudogene 1 Neighboring gene folate receptor beta Neighboring gene skeletal muscle cis-regulatory module in INPPL1 intron Neighboring gene inositol polyphosphate phosphatase like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Antifolate resistance, organism-specific biosystem (from KEGG)
      Antifolate resistance, organism-specific biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
    • Antifolate resistance, conserved biosystem (from KEGG)
      Antifolate resistance, conserved biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • COPI-mediated anterograde transport, organism-specific biosystem (from REACTOME)
      COPI-mediated anterograde transport, organism-specific biosystemThe ERGIC (ER-to-Golgi intermediate compartment, also known as vesicular-tubular clusters, VTCs) is a stable, biochemically distinct compartment located adjacent to ER exit sites (Ben-Tekaya et al, 2...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
      Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Folate Metabolism, organism-specific biosystem (from WikiPathways)
      Folate Metabolism, organism-specific biosystem
      Folate Metabolism
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    drug binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    folic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    folic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    folic acid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    folic acid receptor activity IC
    Inferred by Curator
    more info
     
    folic acid receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methotrexate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    anterior neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axon regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to folic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    folate import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    folic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    folic acid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural crest cell migration involved in heart formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pharyngeal arch artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    anchored component of external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    anchored component of external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface HDA PubMed 
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transport vesicle TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    folate receptor alpha
    Names
    FR-alpha
    KB cells FBP
    adult folate-binding protein
    folate binding protein
    folate receptor 1 (adult)
    folate receptor, adult
    ovarian tumor-associated antigen MOv18

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015863.1 RefSeqGene

      Range
      5001..11766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000802.3NP_000793.1  folate receptor alpha precursor

      See identical proteins and their annotated locations for NP_000793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 7. Variants 1, 2, 4 and 7 all encode the same protein.
      Source sequence(s)
      AP000812, BC002947, CA450368, U78794
      Consensus CDS
      CCDS8211.1
      UniProtKB/Swiss-Prot
      P15328
      UniProtKB/TrEMBL
      A0A024R5H1
      Conserved Domains (1) summary
      pfam03024
      Location:36211
      Folate_rec; Folate receptor family
    2. NM_016724.2NP_057936.1  folate receptor alpha precursor

      See identical proteins and their annotated locations for NP_057936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents the longest variant. Variants 1, 2, 4 and 7 all encode the same protein.
      Source sequence(s)
      CA450368, J05013, M28099
      Consensus CDS
      CCDS8211.1
      UniProtKB/Swiss-Prot
      P15328
      UniProtKB/TrEMBL
      A0A024R5H1
      Related
      ENSP00000377286.2, ENST00000393681.6
      Conserved Domains (1) summary
      pfam03024
      Location:36211
      Folate_rec; Folate receptor family
    3. NM_016725.2NP_057937.1  folate receptor alpha precursor

      See identical proteins and their annotated locations for NP_057937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 7. Variants 1, 2, 4 and 7 all encode the same protein.
      Source sequence(s)
      CA450368, J05013
      Consensus CDS
      CCDS8211.1
      UniProtKB/Swiss-Prot
      P15328
      UniProtKB/TrEMBL
      A0A024R5H1
      Related
      ENSP00000308137.4, ENST00000312293.9
      Conserved Domains (1) summary
      pfam03024
      Location:36211
      Folate_rec; Folate receptor family
    4. NM_016729.3NP_057941.1  folate receptor alpha precursor

      See identical proteins and their annotated locations for NP_057941.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 7. Variants 1, 2, 4 and 7 all encode the same protein.
      Source sequence(s)
      AP000812, U78793
      Consensus CDS
      CCDS8211.1
      UniProtKB/Swiss-Prot
      P15328
      UniProtKB/TrEMBL
      A0A024R5H1
      Related
      ENSP00000377281.3, ENST00000393676.5
      Conserved Domains (1) summary
      pfam03024
      Location:36211
      Folate_rec; Folate receptor family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      72189558..72196323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016730.1: Suppressed sequence

      Description
      NM_016730.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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