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FLASH GENE

Symbol

SLC5A7

contributors: mct - updated : 12-01-2013

HGNC name	solute carrier family 5 (choline transporter), member 7
HGNC id	14025

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS20 congenital myasthenic syndrome, 20 DHMN7A distal hereditary motor neuronopathy, type 7
Location	2q12.3      Physical location : 108.602.994 - 108.630.439
Synonym name	high affinity choline transporter1, hemicholinium-3-sensitive choline transporter
	hemicholinium-3-sensitive choline transporter
	high-affinity choline transporter 1
Synonym symbol(s)	CHT, CHT1

DNA

TYPE	functioning gene
STRUCTURE	27.44 kb     9 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_021815 9 - 5158 NP_068587 - 580 - -

EXPRESSION

Type

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 basal nuclei putamen     Nervous brain hindbrain medulla oblongata       brain       specific Homo sapiens   spinal cord anterior horn       Homo sapiens Skin/Tegument skin         Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous cholinergic neuron Homo sapiens Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to rattus Cht1
	ortholog to murine Slc5a7
	homolog to drosophila CG7708
	ortholog to C.elegans cho-1

intraspecies

homolog to SGLT

Homologene

FAMILY

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	predominantly localized to the epithelial cell membranes, in case of ciliated tracheal cells it was restricted to the apical membrane

basic FUNCTION	expressed in cholinergic neurons and efficiently transported to axon terminals where it controls the rate-limiting step in acetylcholine synthesis
	is present in central cholinergic neurons and cholinergic neurotransmission is important for cognitive and behavioral functions
	critical determinant of synaptic acetylcholine (ACh) synthesis and release at the neuromuscular junction (NMJ)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	choline transporter

PATHWAY

metabolism

other

signaling

acetylcholine biosynthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

NEDD4L mediated ubiquitination regulates the cell surface expression of SLC5A7

cell & other

REGULATION

Other

overexpressed CHAT enhanced transcription of the SLC5A7 gene

ASSOCIATED DISORDERS

corresponding disease(s)

DHMN7A , CMS20

Susceptibility

to heart rate variability

Variant & Polymorphism other	heart rate variability is associated with polymorphic variation in SLC5A7

Candidate gene	SLC5A7 or its regulation should be considered as a potential contributor to idiopathic motor neuronopathies
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer drugs which inhibit the interaction between SLC5A7 and NEDD4L might be useful for diseases involving decrease in acetylcholine level such as Alzheimer disease

ANIMAL & CELL MODELS

Slc5a7-knockout mice display early postnatal paralysis, cyanosis, and lethality