folate receptor alpha

Summary
Gene Symbol
  • FOLR1
Aliases
  • FRĪ±
Organism
Homo sapiens (human)
External Links
NCBI Gene
2348
HGNC
3791
KEGG Gene ID
hsa:2348
PubChem
2348
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cell membrane
  • Cytoplasmic vesicle
  • Direct protein sequencing
  • Disulfide bond
  • Endosome
  • Folate-binding
  • GPI-anchor
  • Neurodegeneration
  • Receptor
  • Reference proteome
  • Secreted
  • Signal
  • Transport
Proteins
Displaying 1 entry
UniProt Protein Name
P15328
  • Adult folate-binding protein
  • Folate receptor 1
  • Folate receptor, adult
  • KB cells FBP
  • Ovarian tumor-associated antigen MOv18
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K13649
Name
folate receptor
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 111 in total
DO ID Disease Name Source
DOID:0050185 erythema multiforme
DOID:0050426 Stevens-Johnson syndrome
DOID:0050569 Seckel syndrome
DOID:0050719 cerebral folate receptor alpha deficiency
DOID:0050741 alcohol dependence
DOID:0050902 medulloblastoma
DOID:0060041 autism spectrum disorder
DOID:0060254 Robinow syndrome
DOID:0060326 myelomeningocele
DOID:0060578 Noonan syndrome 1
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0002180 Neurodegeneration
HP:0002376 Developmental regression
Displaying 1 entry
Disease ID Disease Name
OMIM:613068
  • neurodegenerative syndrome due to cerebral folate transport deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024