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FLASH GENE

Symbol

SLC7A4

contributors: - updated : 31-08-2006

HGNC name	solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
HGNC id	11062

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q11.21      Physical location : 21.383.007 - 21.386.847
Synonym name	Ig heavy chain variable region
	VH 3 family gene
Synonym symbol(s)	CAAT3, CAT-4, CTR4, HCAT3, MGC129976, MGC129977, VH

DNA

TYPE	functioning gene
STRUCTURE	3.00 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

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 Nervous brain hindbrain medulla oblongata       brain diencephalon hypothalamus     Reproductive female system placenta         male system testis       Respiratory lung         Skin/Tegument skin

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	13 transmembrane-spanning domains,
	5 potential N-glycosylation sites,
	two putative protein kinase C phosphorylation sites

HOMOLOGY

Homologene

FAMILY

solute carrier family 7,cationic amino-acid

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

high affinity sodium independent, transporter of cationic aminoacids, but not sufficient to mediate alone in the plasma membrane the amino-acid transport

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in velo-cardio-facial syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS