SLC5A7 - solute carrier family 5 member 7 Gene

Also Known as CHT; CHT1; CMS20; HMN7A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60482

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables choline transmembrane transporter activity	IDA IDA: Inferred from direct assay	11027560	GOA
enables choline transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	11068039	GOA
enables choline:sodium symporter activity	IDA IDA: Inferred from direct assay	11068039	GOA
enables choline:sodium symporter activity	IMP IMP: Inferred from mutant phenotype	12237312	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in acetylcholine biosynthetic process	IDA IDA: Inferred from direct assay	11027560	GOA
involved in acetylcholine biosynthetic process	IMP IMP: Inferred from mutant phenotype	11068039	GOA
involved in choline transport	IDA IDA: Inferred from direct assay	11027560	GOA
involved in choline transport	IMP IMP: Inferred from mutant phenotype	12237312	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome membrane	IDA IDA: Inferred from direct assay	12969261	GOA
located in early endosome membrane	IMP IMP: Inferred from mutant phenotype	15953352	GOA
located in membrane	IDA IDA: Inferred from direct assay	11027560	GOA
located in neuromuscular junction	IDA IDA: Inferred from direct assay	27569547	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12237312	GOA
located in presynaptic membrane	IDA IDA: Inferred from direct assay	12969261	GOA
located in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	12969261	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13293	SLC5A7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21938	Slc5a7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SLC5A7	NCBI