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  2. FOLR1 - folate receptor alpha Gene

FOLR1 - folate receptor alpha Gene

Homo sapiens

Also known as FBP; FOLR; NCFTD; FRalpha

Gene ID: 2348 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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 Reference
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%
HY-P72371 FOLR1 Protein, Human (Biotinylated, HEK293, His-Avi) P15328 (R25-S234) ≥95%
HY-P78445 FOLR1 Protein, Human (HEK293, His-Avi) P15328 (R25-M233) ≥95%

FOLR1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81354 Folate Binding Protein Antibody (YA1099) IHC-P 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
Canis familiaris FOLR1 NCBI
Macaca fascicularis FOLR1 NCBI NCBI:102132305
Others FOLR1 NCBI