InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FOLR1

Summary

InnateDB Protein

IDBP-243133.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FOLR1

Protein Name

folate receptor 1 (adult)

Synonyms

FBP; FOLR;

Species

Homo sapiens

Ensembl Protein

ENSP00000377281

InnateDB Gene

IDBG-63244 (FOLR1)

Protein Structure

UniProt Annotation

Function

Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation. {ECO:0000269PubMed:23851396, ECO:0000269PubMed:23934049, ECO:0000269PubMed:2527252, ECO:0000269PubMed:8033114, ECO:0000269PubMed:8567728}.

Subcellular Localization

Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000305}. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Endosome. Apical cell membrane {ECO:0000250}. Note=Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.

Disease Associations

Neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]: A neurodegenerative 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. {ECO:0000269PubMed:19732866}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Primarily expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum. Detected in placenta and thymus epithelium. {ECO:0000269PubMed:2527252, ECO:0000269PubMed:2768245, ECO:0000269PubMed:9063895}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005542	folic acid binding
GO:0008517	folic acid transporter activity

Biological Process

GO:0006898	receptor-mediated endocytosis
GO:0008219	cell death
GO:0015884	folic acid transport

Cellular Component

GO:0005768	endosome
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0030136	clathrin-coated vesicle
GO:0031362	anchored component of external side of plasma membrane
GO:0070062	extracellular vesicular exosome