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FLASH GENE

Symbol

SLC3A1

contributors: mct/npt - updated : 21-10-2009

HGNC name	solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
HGNC id	11025

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CSNU1 cystinuria-lysinuria type I HCYS hypotonia-cystinuria syndrome
Location	2p21      Physical location : 44.502.596 - 44.547.959
Synonym name	B(0,+)-type amino acid transport protein
Synonym symbol(s)	BATR, CDNAT, D2H, ATR1, rBAT, NBAT, FLJ34681

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	45.37 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000341 10 - 2353 NP_000332 - 685 - Bertran (1993) SLC3A1 variant B - - 2401 - 407 - Parvari (2005) SLC3A1 variant C - - 1426 - 391 - Parvari (2005) SLC3A1 variant D - - 1418 - 316 - Parvari (2005) SLC3A1 variant E - - 1537 - 502 - Parvari (2005) SLC3A1 variant F - - 2909 - 564 - Parvari (2005) SLC3A1 variant G - - 2256 - 551 - Parvari (2005)

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 Digestive intestine small intestine     highly Endocrine neuroendocrine pituitary     highly Urinary bladder           kidney

cells

System Cell Pubmed Species Stage Rna symbol Urinary epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

six potential N-glycosylation sites which might be functional in the oocyte (Bertran 1993)

conjugated

GlycoP

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

solute carrier family 3, neutral aminoacid

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	colocated in the brush border of the plasma membrane

basic FUNCTION	Na+ dependent dibasic (cystine,lysine),neutral aminoacid transport,high affinity
	mediating high affinity y+L-type transporter exchanging cationic aminoacids and/or neutral aminoacids

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterodimerizing with BO+AT (SLC3A1)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CSNU1 , HCYS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS