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FLASH GENE

Symbol

SLC32A1

contributors: mct - updated : 05-06-2024

HGNC name	solute carrier family 32 (GABA vesicular transporter), member 1
HGNC id	11018

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEE114 developmental and epileptic encephalopathy 114
Location	20q11.23      Physical location : 37.353.104 - 37.358.016
Synonym name	vesicular inhibitory amino acid transporter
Synonym symbol(s)	bA122O1.1, VIAAT, VGAT, DEE114, GEFSP12

DNA

TYPE	functioning gene
STRUCTURE	4.89 kb     2 Exon(s)

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_080552 2 - 2550 NP_542119 - 525 - 2021 34038384

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 Nervous brain forebrain       Homo sapiens Reproductive male system testis       Visual eye retina

cells

System Cell Pubmed Species Stage Rna symbol Nervous cholinergic neuron Homo sapiens Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION

vesicular transporter for monoamines

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEE114

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS