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    FOLR1 folate receptor alpha [ Homo sapiens (human) ]

    Gene ID: 2348, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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
     

    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
      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_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.