SLC17A7 (solute carrier family 17 member 7)

Gene

• Entrez ID: 57030
• Gene name: Solute carrier family 17 member 7
• Gene symbol: SLC17A7
• Synonyms (NCBI Gene): BNPI, VGLUT1
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in gl

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017615	hsa-miR-335-5p	Microarray	18185580
MIRT1353545	hsa-miR-106a	CLIP-seq
MIRT1353546	hsa-miR-106b	CLIP-seq
MIRT1353547	hsa-miR-1245	CLIP-seq
MIRT1353548	hsa-miR-1273f	CLIP-seq
MIRT1353549	hsa-miR-17	CLIP-seq
MIRT1353550	hsa-miR-20a	CLIP-seq
MIRT1353551	hsa-miR-20b	CLIP-seq
MIRT1353552	hsa-miR-3160-3p	CLIP-seq
MIRT1353553	hsa-miR-3177-3p	CLIP-seq
MIRT1353554	hsa-miR-4300	CLIP-seq
MIRT1353555	hsa-miR-4428	CLIP-seq
MIRT1353556	hsa-miR-4765	CLIP-seq
MIRT1353557	hsa-miR-488	CLIP-seq
MIRT1353558	hsa-miR-519a	CLIP-seq
MIRT1353559	hsa-miR-519b-3p	CLIP-seq
MIRT1353560	hsa-miR-519c-3p	CLIP-seq
MIRT1353561	hsa-miR-519d	CLIP-seq
MIRT1353562	hsa-miR-548t	CLIP-seq
MIRT1353563	hsa-miR-920	CLIP-seq
MIRT1353564	hsa-miR-93	CLIP-seq
MIRT2104626	hsa-miR-1286	CLIP-seq
MIRT2104627	hsa-miR-1827	CLIP-seq
MIRT2104628	hsa-miR-4436a	CLIP-seq
MIRT2104629	hsa-miR-940	CLIP-seq
MIRT2329079	hsa-miR-1184	CLIP-seq
MIRT2329080	hsa-miR-1205	CLIP-seq
MIRT2329081	hsa-miR-1301	CLIP-seq
MIRT2329082	hsa-miR-223	CLIP-seq
MIRT2329083	hsa-miR-3158-5p	CLIP-seq
MIRT2329084	hsa-miR-4660	CLIP-seq
MIRT2329085	hsa-miR-4697-3p	CLIP-seq
MIRT2329086	hsa-miR-4704-3p	CLIP-seq
MIRT2329087	hsa-miR-5047	CLIP-seq
MIRT2329088	hsa-miR-622	CLIP-seq
MIRT2459506	hsa-miR-1270	CLIP-seq
MIRT2459507	hsa-miR-4254	CLIP-seq
MIRT2459508	hsa-miR-4292	CLIP-seq
MIRT2459509	hsa-miR-4308	CLIP-seq
MIRT2459510	hsa-miR-4683	CLIP-seq
MIRT2459511	hsa-miR-4781-5p	CLIP-seq
MIRT2459512	hsa-miR-577	CLIP-seq
MIRT2459513	hsa-miR-620	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003407	Process	Neural retina development	IEA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005313	Function	L-glutamate transmembrane transporter activity	TAS
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IBA
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	10820226
GO:0005436	Function	Sodium:phosphate symporter activity	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	TAS	8632143
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	ISS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006817	Process	Phosphate ion transport	IEA
GO:0006817	Process	Phosphate ion transport	ISS
GO:0006817	Process	Phosphate ion transport	TAS	8632143
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	ISS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008068	Function	Extracellularly glutamate-gated chloride channel activity	IEA
GO:0015291	Function	Secondary active transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015386	Function	Potassium:proton antiporter activity	IEA
GO:0015386	Function	Potassium:proton antiporter activity	ISS
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	ISS
GO:0016020	Component	Membrane	IDA	10820226
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8632143
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0044300	Component	Cerebellar mossy fiber	IEA
GO:0044341	Process	Sodium-dependent phosphate transport	IEA
GO:0044341	Process	Sodium-dependent phosphate transport	ISS
GO:0045202	Component	Synapse	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0050803	Process	Regulation of synapse structure or activity	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051938	Process	L-glutamate import	IEA
GO:0055062	Process	Phosphate ion homeostasis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060076	Component	Excitatory synapse	IBA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060203	Component	Clathrin-sculpted glutamate transport vesicle membrane	TAS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IBA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0140787	Function	Phosphate ion uniporter activity	IEA
GO:0140787	Function	Phosphate ion uniporter activity	ISS
GO:0140788	Function	L-glutamate uniporter activity	IEA
GO:0140788	Function	L-glutamate uniporter activity	ISS
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 605208
• HGNC: 16704
• e!Ensembl: ENSG00000104888

Protein

• UniProt ID: Q9P2U7
• Protein name: Vesicular glutamate transporter 1 (VGluT1) (Brain-specific Na(+)-dependent inorganic phosphate cotransporter) (Solute carrier family 17 member 7)
• Protein function: Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate (PubMed:10820226). At the synaptic vesicle membrane, mainly functions as an uniporter which transports pre
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	68 → 453	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in several regions of the brain including amygdala, cerebellum, cerebral cortex, hippocampus, frontal lobe, medulla, occipital lobe, putamen and temporal lobe. {ECO:0000269|PubMed:10820226}.
• Sequence:

  MEFRQEEFRKLAGRALGKLHRLLEKRQEGAETLELSADGRPVTTQTRDPPVVDCTCFGLP
  RRYIIAIMSGLGFCISFGIRCNLGVAIVSMVNNSTTHRGGHVVVQKAQFSWDPETVGLIH
  GSFFWGYIVTQIPGGFICQKFAANRVFGFAIVATSTLNMLIPSAARVHYGCVIFVRILQG
  LVEGVTYPACHGIWSKWAPPLERSRLATTAFCGSYAGAVVAMPLAGVLVQYSGWSSVFYV
  YGSFGIFWYLFWLLVSYESPALHPSISEEERKYIEDAIGESAKLMNPLTKFSTPWRRFFT
  SMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGLVSALPHLVMTIIVPIGGQ
  IADFLRSRRIMSTTNVRKLMNCGGFGMEATLLLVVGYSHSKGVAISFLVLAVGFSGFAIS
  GFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKHKTREEWQYVFLIASLVHY
  GGVIFYGVFASGEKQPWAEPEEMSEEKCGFVGHDQLAGSDDSEMEDEAEPPGAPPAPPPS
  YGATHSTFQPPRPPPPVRDY

• Sequence length: 560

Pathways

KEGG:

Synaptic vesicle cycle
Retrograde endocannabinoid signaling
Glutamatergic synapse
Nicotine addiction

Reactome:

Glutamate Neurotransmitter Release Cycle
Organic anion transporters

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANHEDONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Learning Disorders	Learning Disorders	CTD_human_DG	21295146		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	21295146		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38552733, 39650656	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29297151		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	PSYGENET_DG	19409534, 22707231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	BEFREE	28778545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	31711131		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31711131		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19839996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19839996, 20079890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	20079890	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36499607	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	29259026		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31612869	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	17531353		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29343737		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	29343737	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28778545, 30566581, 31711131		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17711980		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	28286184		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	29259026		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	29259026		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	40527859	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	30587990		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25749033		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25749033, 29890994	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36766715	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25749033		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30297697		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33765507, 36766715	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	37041519	Associate	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	21295146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	21295146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	21295146		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29755340		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19839996, 23706640, 24743714		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	21295146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28778545, 30566581, 31711131		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25749033, 29890994		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31711131		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	29890994	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	16563567	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29343737		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15124027, 15653259, 18155679, 19720501, 19839996, 19917116, 21145444, 21396926, 23356950, 27550734, 31062628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15653259, 18155679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21145444, 21396926, 22197296, 23356950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30109491		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18495095		★☆☆☆☆ Found in Text Mining only