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FLASH GENE

Symbol

SLC19A1

contributors: - updated : 20-06-2006

HGNC name	solute carrier family 19 (folate transporter), member 1
HGNC id	10937

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	27.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	alternative promoter
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	seven non-coding exons
	A1/A2 promoter
	regulated by unique cis -elements and transcription factors, including stimulating protein (Sp) 1 and Sp3 and the basic leucine zipper family of proteins
	a highly GC-rich direct repeat element containing at least three putative SP1 and three putative MZF1 sites in promoter 2
	transcription factor binding to three E-box elements and one GATA site

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - PFKL PFKL - C21orf2 - SUMO3 - ITGB2 - ADARB1 - COL18A1 - SLC19A1 - COL6A1 - LSS - COL6A2 - PCNT2 - PRMT2 - qter
Authors	Lapenta (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed SLC19A1 - - 2700 - - - Prasad KS32 - - 630 - - K562 cells Zhang KS1 - - 990 - - K562 cells Zhang reverse transcription SLC19A1 Ia - splicing 2839 - 591 - Cao SLC19A1 Ib - splicing 3263 - 473 - Cao

EXPRESSION

Type	ubiquitous

constitutive of

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 blood / hematopoietic thymus       highly Digestive intestine small intestine         liver         Nervous brain         Reproductive male system testis         male system prostate       Respiratory lung       lowly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

twelve transmembrane spanning segments (12TM)

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Slc19a1
	homolog to Drosophila CG6574

intraspecies

homolog to C.elegans C50E3

Homologene

FAMILY

solute carrier family 19, folate

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

playing a role in maintaining intracellular concentrations of folate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to spina bifida and neural tube defect

Variant & Polymorphism SNP	80G>A in spina bifida
	polymorphism 61bp in the promoter protective against neural tube defect

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS