Human Gene FOLR1 (ENST00000393676.5_5) from GENCODE V47lift37
  Description: folate receptor alpha, transcript variant 4 (from RefSeq NM_016729.3)
Gencode Transcript: ENST00000393676.5_5
Gencode Gene: ENSG00000110195.14_8
Transcript (Including UTRs)
   Position: hg19 chr11:71,903,184-71,907,343 Size: 4,160 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr11:71,903,218-71,907,221 Size: 4,004 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:71,903,184-71,907,343)mRNA (may differ from genome)Protein (257 aa)
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-  Comments and Description Text from UniProtKB
  ID: FOLR1_HUMAN
DESCRIPTION: RecName: Full=Folate receptor alpha; Short=FR-alpha; AltName: Full=Adult folate-binding protein; Short=FBP; AltName: Full=Folate receptor 1; AltName: Full=Folate receptor, adult; AltName: Full=KB cells FBP; AltName: Full=Ovarian tumor-associated antigen MOv18; Flags: Precursor;
FUNCTION: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted (Probable).
TISSUE SPECIFICITY: Exclusively expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum.
PTM: Eight disulfide bonds are present (Probable).
PTM: The secreted form is derived from the membrane-bound form either by cleavage of the GPI anchor, or/and by proteolysis catalyzed by a metalloprotease.
DISEASE: Defects in FOLR1 are the cause of neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]. NCFTD is an autosomal recessive disorder resulting from brain- specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Note=Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
SIMILARITY: Belongs to the folate receptor family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FOLR1
Diseases sorted by gene-association score: neurodegeneration due to cerebral folate transport deficiency* (1381), cerebral folate deficiency* (400), acute necrotizing encephalitis (16), ovarian cancer, somatic (11), thiamine metabolism dysfunction syndrome 2 (6), pseudohyperkalemia, familial, 2, due to red cell leak (5), anencephaly (5), neural tube defects (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.23 RPKM in Lung
Total median expression: 146.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.0034-0.118 Picture PostScript Text
3' UTR -18.70122-0.153 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004269 - Folate_rcpt
IPR018143 - Folate_rcpt-like

Pfam Domains:
PF03024 - Folate receptor family

ModBase Predicted Comparative 3D Structure on P15328
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005542 folic acid binding
GO:0008144 drug binding
GO:0038023 signaling receptor activity
GO:0051870 methotrexate binding
GO:0061714 folic acid receptor activity

Biological Process:
GO:0001947 heart looping
GO:0003147 neural crest cell migration involved in heart formation
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006898 receptor-mediated endocytosis
GO:0007165 signal transduction
GO:0015884 folic acid transport
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0031103 axon regeneration
GO:0046655 folic acid metabolic process
GO:0048208 COPII vesicle coating
GO:0048678 response to axon injury
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0061626 pharyngeal arch artery morphogenesis
GO:0061713 anterior neural tube closure
GO:0071231 cellular response to folic acid
GO:1904447 folic acid import into cell

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005768 endosome
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005903 brush border
GO:0009986 cell surface
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030133 transport vesicle
GO:0030136 clathrin-coated vesicle
GO:0031225 anchored component of membrane
GO:0031362 anchored component of external side of plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0031526 brush border membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0046658 anchored component of plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  J05013 - Human folate-binding protein (FBP) mRNA, complete cds.
BC002947 - Homo sapiens folate receptor 1 (adult), mRNA (cDNA clone MGC:10473 IMAGE:3956659), complete cds.
AK223527 - Homo sapiens mRNA for folate receptor 1 precursor variant, clone: FCC124E04.
M28099 - Human folate-binding protein (FBP) mRNA, complete cds.
X62753 - H.sapiens mRNA for adult folate binding protein.
U78793 - Human folate receptor alpha (hFR) mRNA, partial cds.
JD556119 - Sequence 537143 from Patent EP1572962.
U78794 - Human folate receptor alpha (hFR) mRNA, alternatively spliced, partial cds.
AH004606 - Homo sapiens folate receptor alpha isoform mRNAs, partial cds.
AB590148 - Synthetic construct DNA, clone: pFN21AE1415, Homo sapiens FOLR1 gene for folate receptor 1, without stop codon, in Flexi system.
DQ892744 - Synthetic construct clone IMAGE:100005374; FLH189297.01X; RZPDo839D0874D folate receptor 1 (adult) (FOLR1) gene, encodes complete protein.
DQ895990 - Synthetic construct Homo sapiens clone IMAGE:100010450; FLH189293.01L; RZPDo839D0864D folate receptor 1 (adult) (FOLR1) gene, encodes complete protein.
CR542019 - Homo sapiens full open reading frame cDNA clone RZPDo834H0535D for gene FOLR1, folate receptor 1 (adult); complete cds, without stopcodon.
BT007158 - Homo sapiens folate receptor 1 (adult) mRNA, complete cds.
M25317 - Human folate binding protein (FBP) mRNA, 3' end.
M35069 - Human folate binding protein mRNA, partial cds.
KU257686 - Homo sapiens folate receptor mRNA, partial cds.
AF000381 - Homo sapiens folate binding protein mRNA, partial cds.
JD354723 - Sequence 335747 from Patent EP1572962.
JD424326 - Sequence 405350 from Patent EP1572962.
JD200424 - Sequence 181448 from Patent EP1572962.
JD399655 - Sequence 380679 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P15328 (Reactome details) participates in the following event(s):

R-HSA-5694410 TMED2:TMED10 tetramer binds GPI anchored proteins
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle
R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-5694530 Cargo concentration in the ER
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000393676.1, ENST00000393676.2, ENST00000393676.3, ENST00000393676.4, FOLR, FOLR1_HUMAN, NM_016729, P15328, Q53EW2, Q6FGT8, Q6LC90, Q9UCT2, uc318waz.1, uc318waz.2
UCSC ID: ENST00000393676.5_5
RefSeq Accession: NM_016729.3
Protein: P15328 (aka FOLR1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FOLR1:
folr1-cft-def (FOLR1-Related Cerebral Folate Transport Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.