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FLASH GENE

Symbol

SLC23A1

contributors: mct/npt - updated : 06-07-2010

HGNC name	solute carrier family 23 (nucleobase transporters), member 1
HGNC id	10974

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q31.2      Physical location : 138.702.890 - 138.719.039
Synonym name	yolk sac permease-like molecule 2
	solute carrier family 23 (nucleobase transporters), member 2
	Na(+)/L-ascorbic acid transporter 1
Synonym symbol(s)	NBTL, SVCT1, YSPL3, SLC23A2

DNA

TYPE	functioning gene
STRUCTURE	16.15 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D5S1995 - APC - SLC23A2 - D5S436 - FBN2 - qter
Authors	Shalakis (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005847 14 - 2366 NP_005838 70 598 - Wang (1999) NM_152685 14 splicing 2378 NP_689898 - 602 intestine Wang (1999)

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 Digestive intestine small intestine     highly   liver       highly Homo sapiens Adult Reproductive male system prostate       Urinary kidney       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	11-14 transmembrane spanning segments
	two potential N-linked glycosylation motifs
	a conserved signaling motif
	multiple potential phosphorylation sites
	potential sites for N-glycosylation in its extracellular domains (Asn-138, Asn-144), essential for vitamin C transporter functionality (Subramanian 2008)

HOMOLOGY

intraspecies

paralog to SLC23A2

Homologene

FAMILY	xanthine/uracil permease family
	SLC23A subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	role in transporting the dietary essential micronutrient ascorbic acid, the reduced and active form of vitamin C (Reidling 2008)
	role as a possible intracellular transporter and N-glycosylation is potentially required for SLC23A1 membrane targeting (Velho 2009)
	expressed mainly in epithelial tissues and is responsible for intestinal absorption and kidney reabsorption of ascorbic acid

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with HNF1a, HNF1B (HNF-1alpha and/or HNF-1beta binding is required for its expression and may be involved in the coordinate regulation of whole body vitamin C status) (Michels 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to preterm delivery

Variant & Polymorphism SNP	increasing the risk for preterm delivery (Erichsen 2006)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS