InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC5A7

Summary

InnateDB Protein

IDBP-294984.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC5A7

Protein Name

solute carrier family 5 (choline transporter), member 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000387346

InnateDB Gene

IDBG-64864 (SLC5A7)

Protein Structure

UniProt Annotation

Function

Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion- dependent. {ECO:0000269PubMed:11027560}.

Subcellular Localization

Membrane {ECO:0000269PubMed:11027560}; Multi-pass membrane protein {ECO:0000269PubMed:11027560}.

Disease Associations

Neuronopathy, distal hereditary motor, 7A (HMN7A) [MIM:158580]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve. {ECO:0000269PubMed:23141292}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005307	choline:sodium symporter activity
GO:0015220	choline transmembrane transporter activity

Biological Process

GO:0006810	transport
GO:0006814	sodium ion transport
GO:0007268	synaptic transmission
GO:0007269	neurotransmitter secretion
GO:0008219	cell death
GO:0008292	acetylcholine biosynthetic process
GO:0055085	transmembrane transport