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FLASH GENE

Symbol

SLC7A3

contributors: mct - updated : 14-01-2016

HGNC name	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
HGNC id	11061

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq13.1      Physical location : 70.145.434 - 70.150.975
Synonym name	cationic amino acid transporter 3
Synonym symbol(s)	ATRC3, CAT3, FLJ14541, CAT-3, MGC20687

DNA

TYPE	functioning gene
STRUCTURE	5.55 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001048164 12 - 2265 NP_001041629 - 619 - 2006 16332251 NM_032803 12 - 2289 NP_116192 - 619 - 2006 16332251

EXPRESSION

Type	ubiquitous

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 Lymphoid/Immune thymus         Homo sapiens Nervous           Homo sapiens   brain basal nuclei caudate nucleus     Homo sapiens   brain diencephalon hypothalamus     Homo sapiens   brain diencephalon thalamus     Homo sapiens   brain forebrain cerebral cortex     Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Nervous epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Slc7a3

Homologene

FAMILY

solute carrier family 7

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues.
	may also function as an ecotropic retroviral leukemia receptor
	SLC7A1, SLC7A3 mediate influences of NMDA receptor activation on the MTOR pathway that regulates neuronal processes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism spectrum disorders

Variant & Polymorphism other	hypomorphic variants of SLC7A3 in males with autism spectrum disorders

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS