SLC5A7 - solute carrier family 5 member 7 Gene

Homo sapiens

Also known as CHT; CHT1; CMS20; HMN7A

Gene ID: 60482 | Gene type: protein coding

About SLC5A7

Cytogenetic location: 2q12.3 Genomic coordinates (GRCh38): 2:107,986,524-108,013,994 (from NCBI)

This gene has 2 transcripts (splice variants), 289 orthologues, 11 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

SLC5A7 Products(4)

mRNA	Protein	Name
NM_001305005.3	NP_001291934.1	high affinity choline transporter 1 isoform a
NM_001305006.3	NP_001291935.1	high affinity choline transporter 1 isoform b
NM_001305007.3	NP_001291936.1	high affinity choline transporter 1 isoform c
NM_021815.5	NP_068587.1	high affinity choline transporter 1 isoform a

SLC5A7 Protein Structure

SSF

0
100
200
300
400
500
580 a.a.

Protein Preferred Names

Protein Names

high affinity choline transporter 1

high affinity choline transporter

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 20, Presynaptic

Congenital Myasthenic Syndrome 20	CMS20
Congenital Myasthenic Syndrome 20 Presynaptic	Myasthenic Syndrome, Congenital, Type 20, Presynaptic

Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A	Hmn Viia
Dhmn7a	Neuropathy, Distal Hereditary Motor, Type Viia
Dhmnvp	Harper-Young Myopathy
Distal Hereditary Motor Neuronopathy Type 7a	Distal Hereditary Motor Neuropathy Type Viia
Neuronopathy, Distal Hereditary Motor, Type 7a	Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a	Harper-Young Myopath
Neuronopathy, Distal Hereditary Motor, 7a	Distal Hereditary Motor Neuronopathy Type Viia
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Neuropathy, Motor, Distal, Hereditary, Type Viia

Distal Hereditary Motor Neuropathy Type 7

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Dhmn7

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy	Autosomal Dominant Dhmn
Autosomal Dominant Distal Spinal Muscular Atrophy

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Cycloplegia

Ciliary Muscle Paresis	Cycloplegic Paralysis Of Accommodation
Paresis Of Accommodation	Visual Accommodation Paralysis
Accommodation Paralysis	Intrinsic Paralysis Of Eye Muscle
Cycloplegic

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7	Dhmnvpy
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Degenerative Myopia

Pathological Myopia	Myopia, Degenerative
Degenerative Progressive High Myopia	Progressive High Myopia
Progressive High Myopia

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Eye Accommodation Disease

Anisometropia

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Tracheal Cancer

Tracheal Carcinoma	Malignant Neoplasm Of Trachea
Tracheal Neoplasms	Pancoast Tumor
Pulmonary Sulcus Neoplasm	Pancoast Syndrome

Ataxia With Vitamin E Deficiency

Ataxia With Isolated Vitamin E Deficiency	AVED
Familial Isolated Vitamin E Deficiency	Friedreich-Like Ataxia
Familial Isolated Deficiency Of Vitamin E	Isolated Vitamin E Deficiency
Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency	Vitamin E Deficiency, Familial Isolated
Ved	Friedreich-Like Ataxia With Selective Vitamin E Deficiency
Five	Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency
Vitamin E Familial Isolated, Deficiency Of	Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Gastric Teratoma

Teratoma Of Stomach

Refractive Error

Refractive Errors

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13293	SLC5A7 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC5A7	VGNC	VGNC:65405
Mus musculus	SLC5A7	MGD	MGI:1927126
Rattus norvegicus	SLC5A7	RGD	RGD:69270
Bos taurus	SLC5A7	VGNC	VGNC:34910
Canis familiaris	SLC5A7	VGNC	VGNC:46450
Macaca mulatta	SLC5A7	VGNC	VGNC:77700

Name
Email *

	Sorry, but the email address you supplied was invalid.