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FOLR1 folate receptor alpha [ Homo sapiens (human) ]

Gene ID: 2348, updated on 5-Mar-2024

Summary

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Official Symbol
FOLR1provided by HGNC
Official Full Name
folate receptor alphaprovided by HGNC
Primary source
HGNC:HGNC:3791
See related
Ensembl:ENSG00000110195 MIM:136430; AllianceGenome:HGNC:3791
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; NCFTD; FRalpha
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
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Genomic context

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See FOLR1 in Genome Data Viewer
Location:
11q13.4
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72189709..72196323)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72116250..72122864)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71900753..71907367)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene folate receptor 1 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71875770-71876579 Neighboring gene folate receptor 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3716 Neighboring gene folate receptor beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3717 Neighboring gene skeletal muscle cis-regulatory module in INPPL1 intron Neighboring gene inositol polyphosphate phosphatase like 1 Neighboring gene paired like homeobox 2A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. High Expression of Folate Receptor Alpha (FOLR1) is Associated With Aggressive Tumor Behavior, Poor Response to Chemoradiotherapy, and Worse Survival in Rectal Cancer. Chen CI, et al. Technol Cancer Res Treat, 2022 Jan-Dec. PMID 36426547, Free PMC Article
  2. Folate receptor alpha in ovarian cancer tissue and patient serum is associated with disease burden and treatment outcomes. Bax HJ, et al. Br J Cancer, 2023 Jan. PMID 36402875, Free PMC Article
  3. High expression of folate receptor alpha is associated with poor prognosis in patients with cervical cancer. Yazaki S, et al. J Gynecol Oncol, 2022 Nov. PMID 36245230, Free PMC Article
  4. Emerging roles for folate receptor FOLR1 in signaling and cancer. Nawaz FZ, et al. Trends Endocrinol Metab, 2022 Mar. PMID 35094917, Free PMC Article
  5. Site-specific glycoproteomic analysis revealing increased core-fucosylation on FOLR1 enhances folate uptake capacity of HCC cells to promote EMT. Jia L, et al. Theranostics, 2021. PMID 34093861, Free PMC Article

See all (165) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
    Title: Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
  2. Cancer-associated fibroblasts induce sorafenib resistance of hepatocellular carcinoma cells through CXCL12/FOLR1.
    Title: Cancer-associated fibroblasts induce sorafenib resistance of hepatocellular carcinoma cells through CXCL12/FOLR1.
  3. Folate receptor alpha is widely expressed and a potential therapeutic target in uterine and ovarian carcinosarcoma.
    Title: Folate receptor alpha is widely expressed and a potential therapeutic target in uterine and ovarian carcinosarcoma.
  4. Elevated expression of receptors for EGF, PDGF, transferrin and folate within murine and human lupus nephritis kidneys.
    Title: Elevated expression of receptors for EGF, PDGF, transferrin and folate within murine and human lupus nephritis kidneys.
  5. Folate receptor alpha in ovarian cancer tissue and patient serum is associated with disease burden and treatment outcomes.
    Title: Folate receptor alpha in ovarian cancer tissue and patient serum is associated with disease burden and treatment outcomes.
  6. High Expression of Folate Receptor Alpha (FOLR1) is Associated With Aggressive Tumor Behavior, Poor Response to Chemoradiotherapy, and Worse Survival in Rectal Cancer.
    Title: High Expression of Folate Receptor Alpha (FOLR1) is Associated With Aggressive Tumor Behavior, Poor Response to Chemoradiotherapy, and Worse Survival in Rectal Cancer.
  7. High expression of folate receptor alpha is associated with poor prognosis in patients with cervical cancer.
    Title: High expression of folate receptor alpha is associated with poor prognosis in patients with cervical cancer.
  8. Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.", trans "FOLR1FOLR2.
    Title: Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.
  9. Emerging roles for folate receptor FOLR1 in signaling and cancer.
    Title: Emerging roles for folate receptor FOLR1 in signaling and cancer.
  10. CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
    Title: CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
Submit: New GeneRIF Correction See all GeneRIFs (117)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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)

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NEW Try the new Transcript table

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
    7583..11742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000802.3 → NP_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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    Related
    ENSP00000502440.1, ENST00000675784.1
    Conserved Domains (1) summary
    pfam03024
    Location:36 → 211
    Folate_rec; Folate receptor family

  2. NM_016724.3 → NP_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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    Related
    ENSP00000377286.2, ENST00000393681.6
    Conserved Domains (1) summary
    pfam03024
    Location:36 → 211
    Folate_rec; Folate receptor family

  3. NM_016725.3 → NP_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)
    J05013
    Consensus CDS
    CCDS8211.1
    UniProtKB/Swiss-Prot
    P15328, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    Related
    ENSP00000308137.4, ENST00000312293.9
    Conserved Domains (1) summary
    pfam03024
    Location:36 → 211
    Folate_rec; Folate receptor family

  4. NM_016729.3 → NP_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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    Related
    ENSP00000377281.3, ENST00000393676.5
    Conserved Domains (1) summary
    pfam03024
    Location:36 → 211
    Folate_rec; Folate receptor family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    72189709..72196323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    72116250..72122864
    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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15328.3 GenPept UniProtKB/Swiss-Prot:P15328

Gene LinkOut

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