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FOLR1 folate receptor alpha [ Homo sapiens (human) ]

Gene ID: 2348, updated on 6-Sep-2021

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; 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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (72189709..72196323)
105.20201022 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 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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 methotrexate binding IDA
Inferred from Direct Assay
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
PubMed 
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
PubMed 
involved_in cellular response to folic acid IDA
Inferred from Direct Assay
more info
PubMed 
involved_in folate import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
PubMed 

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)

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
    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
    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
    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 Updated Annotation Release 109.20210514

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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