FOLR1 - folate receptor alpha Gene

Also Known as FBP; FOLR; NCFTD; FRalpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2348

About FOLR1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,189,709-72,196,323 (from NCBI)

This gene has 5 transcripts (splice variants), 222 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 83.5), kidney (RPKM 59.8) and 4 other tissues.

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]

FOLR1 Products (4)

mRNA Protein Name
NM_000802.3 NP_000793.1 folate receptor alpha precursor
NM_016724.3 NP_057936.1 folate receptor alpha precursor
NM_016725.3 NP_057937.1 folate receptor alpha precursor
NM_016729.3 NP_057941.1 folate receptor alpha precursor
Molecular Function GO Annotation Evidence References Source
enables folic acid binding IDA
IDA: Inferred from direct assay
2527252 GOA
enables folic acid receptor activity IMP
IMP: Inferred from mutant phenotype
8033114 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to folic acid IDA
IDA: Inferred from direct assay
14722620 GOA
involved in folic acid transport IMP
IMP: Inferred from mutant phenotype
8033114 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
10787414 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
10787414 GOA
located in external side of plasma membrane IDA
IDA: Inferred from direct assay
2527252 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23243496 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOLR1 Protein Structure

Folate_rec

Folate_rec: Folate receptor family (36 - 211)

  • 0
  • 100
  • 200
  • 257 a.a.
Protein Preferred Names Protein Names

folate receptor alpha

  • FR-alpha

FOLR1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FOLR1 P15328 SLC35F6 Homo sapiens Q8N357 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FOLR1 Proteins

Cat. No. Product Name Accession Purity
HY-P70296 FOLR1 Protein, Human (HEK293, His) P15328 (R25-S234) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P72371 FOLR1 Protein, Human (Biotinylated, HEK293, His-Avi) P15328 (R25-S234) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P78445 FOLR1 Protein, Human (HEK293, His-Avi) P15328 (R25-M233) ≥ 95%, as determined by Bis-Tris PAGE.

FOLR1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810310 FOLR1 Antibody (YA9643) WB, IHC-P, IF-Tissue Human
HY-P81354 FOLR1 Antibody (YA1099) IHC-P, mIHC Human
HY-P81354A FOLR1 Antibody (YA1099)(PBS only) IHC-P Human
HY-P84112 Folate Binding Protein Antibody (YA3809) IHC-P, ICC/IF, FC, ELISA Human
HY-P84112A Folate Binding Protein Antibody (YA3809)(PBS only) IHC-P, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Neurodegeneration Due To Cerebral Folate Transport Deficiency
  • Cerebral Folate Transport Deficiency

  • Cerebral Folate Deficiency

  • NCFTD

  • Cerebral Folate Deficiency Syndrome

  • Folr1 Deficiency

  • Neurodegenerative Syndrome Due To Cerebral Folate Transport Deficiency

Neural Tube Defects
  • Spina Bifida

  • Neural Tube Defect

  • NTD

  • Neural Tube Defects, Susceptibility To

  • Spinal Dysraphism

  • Spina Bifida, Susceptibility To

  • Rachischisis

  • Cleft Spine

  • Open Spine

  • Hydrocele Spinalis

  • Neural Tube Defect Nos

  • Sb - [Spina Bifida]

  • Spinal Hernia Nos

  • Spinal Fissure Nos

Myelomeningocele
  • Meningomyelocele

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Choriocarcinoma Of The Testis
  • Testicular Choriocarcinoma

Anencephaly
  • Aprosencephaly

  • Anencephalus

  • Congenital Absence Of Brain

  • Absence Of A Large Part Of The Brain And The Skull

  • Anencephalia

  • Anencephalic Monster

  • Brain Absence

  • Brain Agenesis

  • Brain Aplasia

  • Absent Brain

  • Anencephalic

  • Congenital Absence Of Cerebrum

  • Congenital Hemicrania

  • Incomplete Anencephaly

Folate Malabsorption, Hereditary
  • Hereditary Folate Malabsorption

  • Congenital Defect Of Folate Absorption

  • Congenital Folate Malabsorption

  • Folic Acid Transport Defect

  • HFM

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Fallopian Tube Adenocarcinoma
  • Adenocarcinoma Of The Fallopian Tube

Leukodystrophy
  • Leukodystrophies

Serine Deficiency
Charcot-Marie-Tooth Disease, Axonal, Type 2dd
  • CMT2DD

  • Charcot-Marie-Tooth Neuropathy, Type 2dd

  • Charcot-Marie-Tooth Disease Type 2dd

  • Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Atp1a1-Related Cmt2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

  • Charcot-Marie-Tooth Disease 2dd

Epilepsy, Pyridoxine-Dependent
  • Pyridoxine-Dependent Epilepsy

  • PDE

  • Pyridoxine Dependency With Seizures

  • Vitamin B6-Dependent Seizures

  • EPD

  • Aasa Dehydrogenase Deficiency

  • Antiquitin Deficiency

  • Pyridoxine Dependency

  • Glutamate Decarboxylase Deficiency

  • Pyridoxine-Dependent Seizures

  • Deficiency Of Glutamate Decarboxylase

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus FOLR1 VGNC VGNC:102889
Macaca mulatta FOLR1 VGNC VGNC:72689
Rattus norvegicus FOLR1 RGD RGD:71032
Mus musculus FOLR1 MGD MGI:95568
Others FOLR1 NCBI