FOLR1 folate receptor alpha [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (72189709..72196323)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (72116250..72122864)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (71900753..71907367)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PARP-1, EpCAM, and FRalpha as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis.
Title: PARP-1, EpCAM, and FRα as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis.
Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
Title: Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
Cancer-associated fibroblasts induce sorafenib resistance of hepatocellular carcinoma cells through CXCL12/FOLR1.
Title: Cancer-associated fibroblasts induce sorafenib resistance of hepatocellular carcinoma cells through CXCL12/FOLR1.
Folate receptor alpha is widely expressed and a potential therapeutic target in uterine and ovarian carcinosarcoma.
Title: Folate receptor alpha is widely expressed and a potential therapeutic target in uterine and ovarian carcinosarcoma.
Elevated expression of receptors for EGF, PDGF, transferrin and folate within murine and human lupus nephritis kidneys.
Title: Elevated expression of receptors for EGF, PDGF, transferrin and folate within murine and human lupus nephritis kidneys.
Folate receptor alpha in ovarian cancer tissue and patient serum is associated with disease burden and treatment outcomes.
Title: Folate receptor alpha in ovarian cancer tissue and patient serum is associated with disease burden and treatment outcomes.
High Expression of Folate Receptor Alpha (FOLR1) is Associated With Aggressive Tumor Behavior, Poor Response to Chemoradiotherapy, and Worse Survival in Rectal Cancer.
Title: High Expression of Folate Receptor Alpha (FOLR1) is Associated With Aggressive Tumor Behavior, Poor Response to Chemoradiotherapy, and Worse Survival in Rectal Cancer.
High expression of folate receptor alpha is associated with poor prognosis in patients with cervical cancer.
Title: High expression of folate receptor alpha is associated with poor prognosis in patients with cervical cancer.
Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.", trans "FOLR1FOLR2.
Title: Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.
Emerging roles for folate receptor FOLR1 in signaling and cancer.
Title: Emerging roles for folate receptor FOLR1 in signaling and cancer.

Submit: New GeneRIF Correction See all GeneRIFs (118)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebral folate transport deficiency MedGen: C2751584 OMIM: 613068 GeneReviews: FOLR1-Related Cerebral Folate Transport Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80816 (e-PCR)
- UniSTS:87825

SHGC-6023 (e-PCR)
- UniSTS:10786

FOLR1 (e-PCR)
- UniSTS:34872

RH78123 (e-PCR)
- UniSTS:30369

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

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	HDA more info	PubMed
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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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)

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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

NG_015863.1 RefSeqGene

Range

7583..11742

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000802.3 → NP_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:36 → 211

Folate_rec; Folate receptor family
NM_016724.3 → NP_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:36 → 211

Folate_rec; Folate receptor family
NM_016725.3 → NP_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:36 → 211

Folate_rec; Folate receptor family
NM_016729.3 → NP_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:36 → 211

Folate_rec; Folate receptor family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

72189709..72196323

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

72116250..72122864

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_016730.1: Suppressed sequence

Description

NM_016730.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.