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FOLR1 folate receptor alpha [ Homo sapiens (human) ]

Gene ID: 2348, updated on 4-Jan-2025

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; 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

See FOLR1 in Genome Data Viewer
Location:
11q13.4
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72189709..72196323)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72116250..72122864)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables folic acid binding PubMed 
enables folic acid binding PubMed 
enables folic acid receptor activity  
enables folic acid receptor activity PubMed 
enables protein binding PubMed 
enables signaling receptor activity  
Process Evidence Code Pubs
involved_in anterior neural tube closure  
involved_in axon regeneration  
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis  
involved_in cell adhesion  
involved_in cellular response to folic acid PubMed 
involved_in folic acid metabolic process  
involved_in folic acid transport PubMed 
involved_in fusion of sperm to egg plasma membrane involved in single fertilization  
involved_in heart looping  
involved_in neural crest cell migration involved in heart formation  
involved_in pharyngeal arch artery morphogenesis  
involved_in receptor-mediated endocytosis PubMed 
involved_in regulation of canonical Wnt signaling pathway  
involved_in regulation of transforming growth factor beta receptor signaling pathway  
involved_in sperm-egg recognition  

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)

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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_000802.3NP_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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    Related
    ENSP00000502440.1, ENST00000675784.1
    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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    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, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2
    UniProtKB/TrEMBL
    A0A172Q3A8
    Related
    ENSP00000377281.3, ENST00000393676.5
    Conserved Domains (1) summary
    pfam03024
    Location:36211
    Folate_rec; Folate receptor family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)

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