Endometriosis Knowledgebase

Search Result

Gene id

2348

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FOLR1 Gene UCSC Ensembl

Aliases

FBP, FOLR

Gene name

folate receptor 1

Alternate names

folate receptor alpha, FR-alpha, KB cells FBP, adult folate-binding protein, folate binding protein, folate receptor 1 (adult), folate receptor, adult, ovarian tumor-associated antigen MOv18,

Gene location

11q13.4 (72189557: 72196322) Exons: 7 NC_000011.10

Gene summary(Entrez)

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]

OMIM

136430

Protein Summary

Protein general information

P15328

Name: Folate receptor alpha (FR alpha) (Adult folate binding protein) (FBP) (Folate receptor 1) (Folate receptor, adult) (KB cells FBP) (Ovarian tumor associated antigen MOv18)

Length: 257 Mass: 29,819

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

Sequence

MAQRMTTQLLLLLVWVAVVGEAQTRIAWARTELLNVCMNAKHHKEKPGPEDKLHEQCRPWRKNACCSTNTSQEAH
KDVSYLYRFNWNHCGEMAPACKRHFIQDTCLYECSPNLGPWIQQVDQSWRKERVLNVPLCKEDCEQWWEDCRTSY
TCKSNWHKGWNWTSGFNKCAVGAACQPFHFYFPTPTVLCNEIWTHSYKVSNYSRGSGRCIQMWFDPAQGNPNEEV
ARFYAAAMSGAGPWAAWPFLLSLALMLLWLLS

Structural information

Interpro:	IPR004269 IPR018143 IPR032935
Pfam:	PF03024
PDB:	4KM6 4KM7 4KMX 4LRH 5IZQ
PDBsum:	4KM6 4KM7 4KMX 4LRH 5IZQ
STRING:	ENSP00000308137;

Other Databases

GeneCards: FOLR1; Malacards: FOLR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0001947	heart looping	ISS	biological_process
GO:0003147	neural crest cell migrati on involved in heart form ation	ISS	biological_process
GO:0003253	cardiac neural crest cell migration involved in ou tflow tract morphogenesis	ISS	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	NAS	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006888	ER to Golgi vesicle-media ted transport	TAS	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0008144	drug binding	IPI	molecular_function
GO:0008517	folic acid transporter ac tivity	IMP	molecular_function
GO:0009986	cell surface	IDA	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0015884	folic acid transport	IMP	biological_process
GO:0016020	membrane	TAS	cellular_component
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	ISS	biological_process
GO:0030136	clathrin-coated vesicle	IEA	cellular_component
GO:0031103	axon regeneration	ISS	biological_process
GO:0031362	anchored component of ext ernal side of plasma memb rane	IDA	cellular_component
GO:0031362	anchored component of ext ernal side of plasma memb rane	IDA	cellular_component
GO:0031526	brush border membrane	IEA	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0046655	folic acid metabolic proc ess	IEA	biological_process
GO:0048208	COPII vesicle coating	TAS	biological_process
GO:0051870	methotrexate binding	IDA	molecular_function
GO:0060828	regulation of canonical W nt signaling pathway	ISS	biological_process
GO:0061626	pharyngeal arch artery mo rphogenesis	ISS	biological_process
GO:0061713	anterior neural tube clos ure	ISS	biological_process
GO:0061714	folic acid receptor activ ity	IC	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071231	cellular response to foli c acid	IDA	biological_process
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0001947	heart looping	IEA	biological_process
GO:0001947	heart looping	ISS	biological_process
GO:0003147	neural crest cell migrati on involved in heart form ation	IEA	biological_process
GO:0003147	neural crest cell migrati on involved in heart form ation	ISS	biological_process
GO:0003253	cardiac neural crest cell migration involved in ou tflow tract morphogenesis	IEA	biological_process
GO:0003253	cardiac neural crest cell migration involved in ou tflow tract morphogenesis	ISS	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005542	folic acid binding	IEA	molecular_function
GO:0005542	folic acid binding	IEA	molecular_function
GO:0005542	folic acid binding	IEA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	NAS	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005903	brush border	IEA	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0006888	ER to Golgi vesicle-media ted transport	TAS	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0008144	drug binding	IPI	molecular_function
GO:0008517	folic acid transporter ac tivity	IEA	molecular_function
GO:0008517	folic acid transporter ac tivity	IEA	molecular_function
GO:0008517	folic acid transporter ac tivity	IMP	molecular_function
GO:0009986	cell surface	IDA	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0015884	folic acid transport	IEA	biological_process
GO:0015884	folic acid transport	IEA	biological_process
GO:0015884	folic acid transport	IMP	biological_process
GO:0015884	folic acid transport	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	TAS	cellular_component
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IEA	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	ISS	biological_process
GO:0030136	clathrin-coated vesicle	IEA	cellular_component
GO:0031103	axon regeneration	IEA	biological_process
GO:0031103	axon regeneration	ISS	biological_process
GO:0031225	anchored component of mem brane	IEA	cellular_component
GO:0031362	anchored component of ext ernal side of plasma memb rane	IDA	cellular_component
GO:0031362	anchored component of ext ernal side of plasma memb rane	IDA	cellular_component
GO:0031410	cytoplasmic vesicle	IEA	cellular_component
GO:0031526	brush border membrane	IEA	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0046655	folic acid metabolic proc ess	IEA	biological_process
GO:0046658	anchored component of pla sma membrane	IEA	cellular_component
GO:0048208	COPII vesicle coating	TAS	biological_process
GO:0048678	response to axon injury	IEA	biological_process
GO:0051870	methotrexate binding	IDA	molecular_function
GO:0060828	regulation of canonical W nt signaling pathway	IEA	biological_process
GO:0060828	regulation of canonical W nt signaling pathway	ISS	biological_process
GO:0061626	pharyngeal arch artery mo rphogenesis	IEA	biological_process
GO:0061626	pharyngeal arch artery mo rphogenesis	ISS	biological_process
GO:0061713	anterior neural tube clos ure	IEA	biological_process
GO:0061713	anterior neural tube clos ure	ISS	biological_process
GO:0061714	folic acid receptor activ ity	IC	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071231	cellular response to foli c acid	IDA	biological_process
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0001947	heart looping	ISS	biological_process
GO:0003147	neural crest cell migrati on involved in heart form ation	ISS	biological_process
GO:0003253	cardiac neural crest cell migration involved in ou tflow tract morphogenesis	ISS	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	NAS	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	IDA	molecular_function
GO:0005542	folic acid binding	TAS	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006888	ER to Golgi vesicle-media ted transport	TAS	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0008144	drug binding	IPI	molecular_function
GO:0008517	folic acid transporter ac tivity	IMP	molecular_function
GO:0009986	cell surface	IDA	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0015884	folic acid transport	IMP	biological_process
GO:0015884	folic acid transport	TAS	biological_process
GO:0016020	membrane	TAS	cellular_component
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	ISS	biological_process
GO:0031103	axon regeneration	ISS	biological_process
GO:0031362	anchored component of ext ernal side of plasma memb rane	IDA	cellular_component
GO:0031362	anchored component of ext ernal side of plasma memb rane	IDA	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0033116	endoplasmic reticulum-Gol gi intermediate compartme nt membrane	TAS	cellular_component
GO:0048208	COPII vesicle coating	TAS	biological_process
GO:0051870	methotrexate binding	IDA	molecular_function
GO:0060828	regulation of canonical W nt signaling pathway	ISS	biological_process
GO:0061626	pharyngeal arch artery mo rphogenesis	ISS	biological_process
GO:0061713	anterior neural tube clos ure	ISS	biological_process
GO:0061714	folic acid receptor activ ity	IC	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071231	cellular response to foli c acid	IDA	biological_process

KEGG pathways

hsa04144 Endocytosis
hsa01523 Antifolate resistance

Diseases

Associated diseases	References
Cancer	PMID: 20037791
Cleft palate	PMID: 19048631
Endometrial cancer	PMID: 17582475
Endometriosis	PMID: 23332132
Female infertility	PMID: 19324355
Heart defects	PMID: 19493349
Homocystinuria	PMID: 14972645
Neural tube defects	PMID: 9545095
Endometriosis	INFBASE23332132
Rheumatoid arthritis	PMID: 19093297
Spinal dysraphism	PMID: 19161160

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23332132	Endometrio sis			18 patients wit h endometriosis	Female infertility	CXCR4 EpCAM ER PR VEGF-A FR-? HIF-1?	Show abstract