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FLASH GENE

Symbol

SLC46A1

contributors: mct/npt/pgu - updated : 20-07-2009

HGNC name	solute carrier family 46 (folate transporter), member 1
HGNC id	30521

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CFM congenital folate malabsorption
Location	17q11.2      Physical location : 26.721.660 - 26.733.228
Synonym name	heme carrier protein 1
	proton-coupled folate transporter
Synonym symbol(s)	HCP1, MGC9564, PCFT, G21, PCFT/HCP1

DNA

TYPE	functioning gene
STRUCTURE	11.57 kb     5 Exon(s)

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
text structure	basal promoter is rich in functional GC-box sites that play a key role in regulation of SLC46A1 gene expression

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 5 - 6505 isoform 1 - 459 - 2009 19074442

EXPRESSION

Type

widely

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 adrenal gland       highly   parathyroid       highly Lymphoid/Immune spleen       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY	major facilitator superfamily
	SLC46A family

CATEGORY

transport carrier channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	having a critical role to intestinal folate absorption and transport into the central nervous system
	might play also a role in another transport pathway, folate receptor (FR)-mediated endocytosis
	mediates intestinal folate uptake at acidic pH
	NRF1-responsive gene
	functions as a folate-proton co-transporter in the acidic microclimate of the upper small intestine

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CFM

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS