SLC17A7 solute carrier family 17 member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC17A7provided by HGNC
Official Full Name: solute carrier family 17 member 7provided by HGNC
Primary source: HGNC:HGNC:16704
See related: Ensembl:ENSG00000104888 MIM:605208; AllianceGenome:HGNC:16704
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BNPI; VGLUT1
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 glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 231.7) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49429401..49441527, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52426980..52439104, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49932658..49944784, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In mammals, VGLUT1 gained a proline-rich sequence that recruits endophilinA1 and turns the transporter into a regulator of synaptic vesicles organization and spontaneous release.
Title: A proline-rich motif on VGLUT1 reduces synaptic vesicle super-pool and spontaneous release frequency.
The findings of this study indicate that Slc17A7 located on 1p/19q may simultaneously influence tumor development.
Title: Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion.
Study revealed susceptibility of glutamatergic nerve terminals to Abeta induced toxicity and underlined the importance of VGLUT1 in the progression of Alzheimer's disease, as the decrease of this protein levels could increase the susceptibility to subsequent deleterious inputs by exacerbating Abeta induced neuroinflammation and synaptic plasticity disruption.
Title: Down-regulation of glutamatergic terminals (VGLUT1) driven by Aβ in Alzheimer's disease.
This study was the first to demonstrate an association between genetic polymorphism at rs7417284 SNP in the promoter region of the SLC17A7 gene and concussion severity and duration. Based upon these findings, rs74174284 is a potential predictive genetic marker for identifying athletes who are more susceptible for altered recovery times and worse motor speed ImPACT scores after sport-related concussion.
Title: Genetic variation in SLC17A7 promoter associated with response to sport-related concussions.
Results suggest that activation of JNK in Alzheimer's disease (AD) inhibits insulin signaling which could lead to a decreased expression of VGLUT1, therefore contributing to the glutamatergic deficit in AD
Title: JNK: A Putative Link Between Insulin Signaling and VGLUT1 in Alzheimer's Disease.
Loss of SLC17A7 expression is associated with glioblastoma.
Title: Global analysis of H3K4me3 and H3K27me3 profiles in glioblastoma stem cells and identification of SLC17A7 as a bivalent tumor suppressor gene.
Depressed patients showed significant decreases in synaptophysin (SYN) and VGLUT1 expression, whereas in bipolar patients, decreases in VGLUT1 expression have also been found.
Title: Alterations in the expression of PSA-NCAM and synaptic proteins in the dorsolateral prefrontal cortex of psychiatric disorder patients.
Data indicate that GABAergic axons were labeled with vesicular inhibitory aa transporter (VIAAT) antibodies, whereas glutamatergic axons were detected with antisera against the major vesicular glutamate transporter (VGLUT) isoforms, VGLUT1 and VGLUT2.
Title: Glutamatergic and GABAergic innervation of human gonadotropin-releasing hormone-I neurons.
We examined the ratio of excitatory to inhibitory vesicular neurotransmitter transporter mRNAs (VGluT1 to VGAT) and their ratio in the dorsolateral prefrontal cortex during normal human development and in people with schizophrenia
Title: Expression of VGluT1 and VGAT mRNAs in human dorsolateral prefrontal cortex during development and in schizophrenia.
this study suggests that the common genetic variants of the VGLUT1 gene appear not play a major role in conferring susceptibility to schizophrenia in Han population of Taiwan.
Title: Resequencing and association study of vesicular glutamate transporter 1 gene (VGLUT1) with schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC84149P1 (e-PCR)
- UniSTS:273440

HSCZSA032 (e-PCR)
- UniSTS:47649

Slc17a7 (e-PCR), detects polymorphism
- UniSTS:547911

RH11758 (e-PCR)
- UniSTS:846

G42190 (e-PCR)
- UniSTS:105108

MARC_9701-9702:996688535:1 (e-PCR)
- UniSTS:269974

SLC17A7_V147 (e-PCR)
- UniSTS:462530

SLC17A7_839.2 (e-PCR)
- UniSTS:462530

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-glutamate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-glutamate transmembrane transporter activity	TAS Traceable Author Statement more info
enables L-glutamate uniporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables neurotransmitter transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphate ion uniporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium:phosphate symporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-glutamate transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in neural retina development	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter loading into synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter transport	TAS Traceable Author Statement more info
involved_in phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse structure or activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium-dependent phosphate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in clathrin-sculpted glutamate transport vesicle membrane	TAS Traceable Author Statement more info
is_active_in excitatory synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: vesicular glutamate transporter 1

Names: brain-specific Na(+)-dependent inorganic phosphate cotransporter; brain-specific Na-dependent inorganic phosphate cotransporter; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7; solute carrier family 17 (vesicular glutamate transporter), member 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_020309.4 → NP_064705.1 vesicular glutamate transporter 1

See identical proteins and their annotated locations for NP_064705.1

Status: REVIEWED

Source sequence(s)

AB032436, AC010619, BC059379, BQ636968, BU732143

Consensus CDS

CCDS12764.1

UniProtKB/Swiss-Prot

B4DFR9, B4DG46, Q6PCD0, Q9P2U7

Related

ENSP00000221485.2, ENST00000221485.8

Conserved Domains (1) summary

cd17382
Location:66 → 490

MFS_SLC17A6_7_8_VGluT; Solute carrier family 17 members 6, 7, and 8 (also called Vesicular glutamate transporters) of the Major Facilitator Superfamily of transporters