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FOLR1 folate receptor alpha [ Homo sapiens (human) ]

Gene ID: 2348, updated on 12-Oct-2019

Summary

Official Symbol
FOLR1provided by HGNC
Official Full Name
folate receptor alphaprovided 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; 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

Genomic context

See FOLR1 in Genome Data Viewer
Location:
11q13.4
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (72189709..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 Functions

What'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 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
    5152..11742
    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_016724.3NP_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_016725.3NP_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
    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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    72189709..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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