SLC5A7
entrez
60482
canonical
uniprot
Q9GZV3
canonical
ensembl
ENSG00000115665
resolver
ensp
ENSP00000264047
resolver
ensp
ENSP00000387346
resolver
ensp
ENSP00000620114
resolver
enst
ENST00000264047
resolver
enst
ENST00000409059
resolver
genesymbol
SLC5A7
resolver
genesymbol_syn
CHT1
resolver
hgnc
HGNC:14025
resolver
uniprot
B2RCU2
resolver
uniprot
B4DUU7
resolver
uniprot
Q2T9H3
resolver
uniprot
Q53TF2
resolver
uniprot_entry
B2RCU2_HUMAN
resolver
uniprot_entry
B4DUU7_HUMAN
resolver
uniprot_entry
Q2T9H3_HUMAN
resolver
uniprot_entry
SC5A7_HUMAN
resolver
uniprot_sec
Q53TF2
resolver
activity_regulation
ACTIVITY REGULATION: Choline uptake activity is regulated by SLC5A7/CHT1 internalization (inactive form) from the cell surface and recycling of internalized SLC5A7/CHT1 into the cell surface (active form) (Probable) (PubMed:12969261, PubMed:15953352). Activated by extracellular chloride ion (PubMed:11068039, PubMed:12237312, PubMed:17005849). Specifically inhibited by nanomolar concentrations of hemicholinium 3 (PubMed:11027560, PubMed:11068039, PubMed:12237312, PubMed:12969261, PubMed:17005849, PubMed:23132865). {ECO:0000269|PubMed:11027560, ECO:0000269|PubMed:11068039, ECO:0000269|PubMed:12237312, ECO:0000269|PubMed:12969261, ECO:0000269|PubMed:15953352, ECO:0000269|PubMed:17005849, ECO:0000269|PubMed:23132865, ECO:0000305|PubMed:17005849}.
uniprot
proteins
amino_acid_sequence
MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTATWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQIYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSWLDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDWNQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQLLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 7 (HMND7) [MIM:158580]: A form of distal hereditary motor neuronopathy, 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. HMND7 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:0000269|PubMed:23141292}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing. {ECO:0000269|PubMed:27569547}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: High-affinity Na(+)-coupled choline transmembrane symporter (PubMed:11027560, PubMed:11068039, PubMed:12237312, PubMed:12969261, PubMed:17005849, PubMed:23132865, PubMed:23141292, PubMed:27569547, PubMed:40972734). Functions as an electrogenic, voltage-dependent transporter with variable charge/choline stoichiometry (PubMed:17005849). Choline uptake and choline-induced current is also Cl(-)-dependent where Cl(-) is likely a regulatory ion rather than cotransported ion (PubMed:11068039, PubMed:12237312, PubMed:17005849). Plays a critical role in acetylcholine (ACh) synthesis by taking up the substrate choline from the synaptic cleft into the presynaptic nerve terminals after neurotransmitter release (PubMed:27569547). SLC5A7/CHT1-mediated choline high-affinity transport in cholinergic neurons is the rate-limiting step for production of ACh, thereby facilitating communication by subsequent action potentials (PubMed:11027560). Localized predominantly in presynaptic terminal intracellular organelles, and translocated to the plasma membrane in active form in response to neuronal activity (PubMed:12969261, PubMed:15953352). {ECO:0000269|PubMed:11027560, ECO:0000269|PubMed:11068039, ECO:0000269|PubMed:12237312, ECO:0000269|PubMed:12969261, ECO:0000269|PubMed:15953352, ECO:0000269|PubMed:17005849, ECO:0000269|PubMed:23132865, ECO:0000269|PubMed:23141292, ECO:0000269|PubMed:27569547}.
uniprot
proteins
mass_dalton
63204
uniprot
proteins
mutagenesis
MUTAGEN 89; /note="I->A: Decreased choline transmembrane transporter activity, only 20% of wild-type choline uptake activity."; /evidence="ECO:0000269|PubMed:23132865"; MUTAGEN 451; /note="E->Q: Decreased choline transmembrane transporter activity, only 5% of wild-type choline uptake activity."; /evidence="ECO:0000269|PubMed:23132865"; MUTAGEN 530; /note="I->A: No change in protein internalization. No change in choline transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:15953352"; MUTAGEN 531..532; /note="LV->AA: Decreased protein internalization; when associated with V-538. Increased choline transmembrane transporter activity; when associated with V-538."; /evidence="ECO:0000269|PubMed:17005849"; MUTAGEN 531; /note="L->A: Loss of protein internalization to vesicular structures in neurons. Increased choline transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:15953352"; MUTAGEN 532; /note="V->A: Decreased protein internalization. Increased choline transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:15953352"; MUTAGEN 538; /note="K->V: Decreased protein internalization; when associated with 531-L-V-532. Increased choline transmembrane transporter activity; when associated with 531-L-V-532."; /evidence="ECO:0000269|PubMed:17005849
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250|UniProtKB:Q8BGY9}.
uniprot
proteins
protein_family
Sodium:solute symporter (SSF) (TC 2.A.21) family
uniprot
proteins
pubmed
11027560
uniprot
proteins
pubmed
11068039
uniprot
proteins
pubmed
12237312
uniprot
proteins
pubmed
12969261
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15953352
uniprot
proteins
pubmed
17005849
uniprot
proteins
pubmed
17092608
uniprot
proteins
pubmed
23132865
uniprot
proteins
pubmed
23141292
uniprot
proteins
pubmed
27569547
uniprot
proteins
pubmed
40972734
uniprot
proteins
sequence_length
580
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Presynaptic cell membrane {ECO:0000269|PubMed:11027560, ECO:0000269|PubMed:12969261, ECO:0000269|PubMed:27569547}; Multi-pass membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q8BGY9}. Early endosome membrane {ECO:0000269|PubMed:12969261, ECO:0000269|PubMed:15953352}; Multi-pass membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:12969261}; Multi-pass membrane protein {ECO:0000305}. Note=Localized at the neuromuscular junction (PubMed:27569547). Localization at the plasma membrane is transient due to the rapid endocytosis of SLC5A7/CHT1 via the clathrin-mediated pathway, where it localizes to early endosomes (PubMed:12969261, PubMed:15953352). Also localized to synaptic vesicles where it is likely mobilized to the cell surface by exocytosis (PubMed:12969261). {ECO:0000269|PubMed:12969261, ECO:0000269|PubMed:15953352, ECO:0000269|PubMed:27569547}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 49..69; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..102; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 126..146; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 165..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 192..212; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 238..258; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 275..295; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 318..338; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 377..397; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 436..456; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 482..502; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins