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FLASH GENE

Symbol

FOLR1

contributors: mct/npt - updated : 18-09-2014

HGNC name	folate receptor 1 (adult)
HGNC id	3791

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CFLTD cerebral folate transport defect
Location	11q13.4      Physical location : 71.900.601 - 71.907.366
Synonym name	folate receptor alpha
	ovarian cancer associated antigen
	folate binding protein 1
	KB cells FBP
Synonym symbol(s)	FOLR, FOL1, FBP1, FRA, MOv18, FR-alpha, FBP

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	6.76 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

P4 promoter has three GC rich regions binding SP1 or SP1 related nuclear proteins

MAPPING

cloned

Y

linked

Y

status

confirmed

regionally located

telomeric of the FGF3 locus

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000802 5 - 944 NP_000793 29 257 - Elwood, Ragoussis (1992) exons 2, 4 (partial), 5, 5 and 7 (partial) NM_016724 6 - 1032 NP_057936 29 257 - Elwood, Ragoussis (1992) exons 1(partial), 3 (partial), 4 (partial), 5, 6, 7 NM_016725 5 - 1104 NP_057937 29 257 - Elwood, Ragoussis (1992) exons 1, 4(partial), 5, 6, 7 (partial) NM_016729 4 - 939 NP_057941 29 257 - Elwood, Ragoussis (1992) exons 4, 5, 6, 7 (partial) NM_016730 5 - 1331 NP_057942 29 257 - Elwood, Ragoussis (1992) exons 3, 4 (partial), 5, 6, 7 (partial) NM_016731 4 - 929 NP_057943 29 257 - Elwood, Ragoussis (1992) exons 4 (partial), 5, 6, 7

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Nervous plexus choroid       highly Respiratory lung       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage
cell lines	ovarian cancer cell lines
fluid/secretion	serum and urine

at STAGE

physiological period

neonatal, pregnancy

Text	placenta, milk (soluble form)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	in C terminus, a signal peptide
	a potential membrane anchoring domain

secondary structure

eight disulfide bonds

conjugated

GlycoP

mono polymer

monomer

HOMOLOGY

interspecies	homolog to murine Folr1
	homolog to C.elegans F27C1.2

Homologene

FAMILY

folate receptor family

CATEGORY

antigen , receptor membrane , transport

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm
text	two forms are produced by splicing (one attached to the membrane by GPI anchor and another soluble and cytoplasmic or secreted)

basic FUNCTION	delivery of 5 methyltetrahydrofolate to the interior of cells
	key regulatory point of folate metabolism for milk protein synthesis within mammary epithelial cells (lactocytes)(Menzies 2009)
	having activity during differentiation of the cells towards visceral endoderm (Salbaum 2009)
	FOLR1, FOLR2, and FOLR3 are suggested to play essential roles in transporting folate from maternal intestinal lumen to the developing embryo

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport

text	folate and methotrexate transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	folic and reduced folic acid derivatives
	target for regulation by HNF4-alpha (Salbaum 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CFLTD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   higher FOLR1 and FOLR3 mRNA levels in ovarian carcinomas compared with both breast carcinomas and mesotheliomas

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Folr1 knockout mice