{ "uniprot_canonical_ac": "Q8NDX2-1", "uniprot_ac": "Q8NDX2", "uniprot_id": "VGLU3_HUMAN", "mass": { "chemical_mass": 64991.0, "monoisotopic_mass": 64991.0 }, "refseq": { "ac": "NP_001138760", "name": "vesicular glutamate transporter 3 isoform 2", "summary": "This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" }, "gene_names": [ { "name": "SLC17A8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NDX2", "id": "Q8NDX2" }, { "name": "DFNA25; VGLUT3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760", "id": "NP_001138760" }, { "name": "SLC17A8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760", "id": "NP_001138760" }, { "name": "VGLUT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NDX2", "id": "Q8NDX2" } ], "protein_names": [ { "name": "Vesicular glutamate transporter 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NDX2" }, { "name": "Solute carrier family 17 member 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NDX2" }, { "name": "VGluT3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NDX2" }, { "name": "vesicular glutamate transporter 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760", "id": "NP_001138760" }, { "name": "vesicular glutamate transporter 3; solute carrier family 17 (vesicular glutamate transporter), member 8; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760", "id": "NP_001138760" } ], "function": [ { "annotation": "A point mutation in VGLUT3 dramatically reduces its expression in synaptic terminals without altering its function.", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" }, { "database": "PubMed", "id": "28314816", "url": "https://glygen.org/publication/PubMed/28314816" } ] }, { "annotation": "Human vesicular glutamate transporter 3 was cloned, shows 72% identity to both hVGLUT1 and hVGLUT2, and its expression in brain overlaps with hVGLUT1 and hVGLUT2", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" }, { "database": "PubMed", "id": "12151341", "url": "https://glygen.org/publication/PubMed/12151341" } ] }, { "annotation": "Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:33440152, PubMed:12151341). At the synaptic vesicle membrane, mainly functions as an uniporter that mediates the uptake of L-glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:12151341). The L-glutamate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:12151341). In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable). The symporter activity is electrogenic (PubMed:33440152). Moreover, operates synergistically with SLC18A3/VACHT under a constant H(+) gradient, thereby allowing striatal vesicular acetylcholine uptake (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2#function" }, { "database": "PubMed", "id": "12151341", "url": "https://glygen.org/publication/PubMed/12151341" }, { "database": "UniProtKB", "id": "Q7TSF2", "url": "https://www.uniprot.org/uniprot/Q7TSF2#function" }, { "database": "PubMed", "id": "33440152", "url": "https://glygen.org/publication/PubMed/33440152" } ] }, { "annotation": "Novel pathogenic splicing mutation in SLC17A8 gene identified in a family with hearing loss.", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" }, { "database": "PubMed", "id": "28647561", "url": "https://glygen.org/publication/PubMed/28647561" } ] }, { "annotation": "Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" }, { "database": "PubMed", "id": "32873747", "url": "https://glygen.org/publication/PubMed/32873747" } ] }, { "annotation": "The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" }, { "database": "PubMed", "id": "34145196", "url": "https://glygen.org/publication/PubMed/34145196" } ] }, { "annotation": "This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" } ] } ], "disease": [ { "disease_id": "DOID:0110555", "recommended_name": { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "autosomal dominant nonsyndromic deafness 25", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23." }, "synonyms": [ { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "DFNA25", "description": "" }, { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "autosomal dominant deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic hearing loss 25", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "DFNA25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "SLC17A8 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness type 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "deafness, autosomal dominant 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "deafness, autosomal dominant type 25", "description": "" }, { "id": "MIM:605583", "resource": "MIM", "url": "https://www.omim.org/entry/605583", "name": "Deafness, autosomal dominant, 25", "description": "Deafness, autosomal dominant, 25" } ], "evidence": [ { "id": "605583", "database": "MIM", "url": "https://www.omim.org/entry/605583" } ] } ], "snv": [ { "evidence": [ { "id": "rs749102850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749102850" }, { "id": "rs749102850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749102850" }, { "id": "rs749102850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749102850" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "12", "chr_pos": "100380921", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212155738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212155738" }, { "id": "rs1212155738", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212155738#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).", "chr_id": "12", "chr_pos": "100380922", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8NDX2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NDX2" }, { "id": "rs199746996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199746996" }, { "id": "rs199746996", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199746996" }, { "id": "rs199746996", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199746996" }, { "id": "rs199746996", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199746996" }, { "id": "rs199746996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199746996#frequency_tab" }, { "id": "rs199746996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199746996" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 37, "end_pos": 37, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "12", "chr_pos": "100380708", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D37", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:0110555", "recommended_name": { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "autosomal dominant nonsyndromic deafness 25", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23." }, "synonyms": [ { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "DFNA25", "description": "" }, { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "autosomal dominant deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic hearing loss 25", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "DFNA25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "SLC17A8 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness type 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "deafness, autosomal dominant 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "deafness, autosomal dominant type 25", "description": "" }, { "id": "MIM:605583", "resource": "MIM", "url": "https://www.omim.org/entry/605583", "name": "Deafness, autosomal dominant, 25", "description": "Deafness, autosomal dominant, 25" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs774391972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774391972" }, { "id": "rs774391972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774391972" }, { "id": "rs774391972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774391972#frequency_tab" }, { "id": "rs774391972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774391972" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 384, "end_pos": 384, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "12", "chr_pos": "100404135", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8NDX2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NDX2" } ], "glycoeffect": [], "start_pos": 527, "end_pos": 527, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "100419968", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E527", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": 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"https://www.uniprot.org/uniprot/Q8NDX2-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSKFSTPWKRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS", "length": 589, "header": "sp|Q8NDX2-1|VGLU3_HUMAN Isoform 1 of Vesicular glutamate transporter 3 OS=Homo sapiens OX=9606 GN=SLC17A8 PE=1 SV=1 CANONICAL=Q8NDX2-1" }, "isoforms": [ { "isoform_ac": "Q8NDX2-1", "url": "", "sequence": { "sequence": "MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSKFSTPWKRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS", "length": 589, "header": "sp|Q8NDX2-1|VGLU3_HUMAN Isoform 1 of Vesicular glutamate transporter 3 OS=Homo sapiens OX=9606 GN=SLC17A8 PE=1 SV=1 CANONICAL=Q8NDX2-1" }, "locus": { "chromosome": "12", "start_pos": 100420156, "end_pos": 100357392, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323346.10", "url": "https://www.ensembl.org/id/ENST00000323346.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000316909.4", "url": "https://www.ensembl.org/id/ENSP00000316909.4" } ] } }, { "isoform_ac": "Q8NDX2-2", "url": "", "sequence": { "sequence": "MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS", "length": 539, "header": "sp|Q8NDX2-2|VGLU3_HUMAN Isoform 2 of Vesicular glutamate transporter 3 OS=Homo sapiens OX=9606 GN=SLC17A8 PE=1 SV=1 CANONICAL=Q8NDX2-1" }, "locus": { "chromosome": "12", "start_pos": 100420156, "end_pos": 100357392, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392989.3", "url": "https://www.ensembl.org/id/ENST00000392989.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000376715.3", "url": "https://www.ensembl.org/id/ENSP00000376715.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "Q8NDX2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NDX2#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.", "journal": "Cell", "date": "1999", "authors": "Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9662360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360" } ], "reference": [ { "type": "PubMed", "id": "10025409", "url": "https://glygen.org/publication/PubMed/10025409" } ] }, { "title": "RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function.", "journal": "Neuron", "date": "2000", "authors": "Schmitz F, Konigstorfer A, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9662360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360" } ], "reference": [ { "type": "PubMed", "id": "11163272", "url": "https://glygen.org/publication/PubMed/11163272" } ] }, { "title": "Identification of differentiation-associated brain-specific phosphate transporter as a second vesicular glutamate transporter (VGLUT2).", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2001", "authors": "Takamori S, Rhee JS, Rosenmund C, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "11698620", "url": "https://glygen.org/publication/PubMed/11698620" } ] }, { "title": "Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fiermonte G, Palmieri L, Todisco S, Agrimi G, Palmieri F, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "11897791", "url": "https://glygen.org/publication/PubMed/11897791" } ] }, { "title": "Identification and characterization of a putative human iodide transporter located at the apical membrane of thyrocytes.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Rodriguez AM, Perron B, Lacroix L, Caillou B, Leblanc G, Schlumberger M, Bidart JM, Pourcher T", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "12107270", "url": "https://glygen.org/publication/PubMed/12107270" } ] }, { "title": "Molecular cloning and functional characterization of human vesicular glutamate transporter 3.", "journal": "EMBO Rep.", "date": "2002", "authors": "Takamori S, Malherbe P, Broger C, Jahn R", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" }, { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" }, { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" } ], "reference": [ { "type": "PubMed", "id": "12151341", "url": "https://glygen.org/publication/PubMed/12151341" } ] }, { "title": "Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.", "journal": "American journal of human genetics", "date": "2005", "authors": "Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "15592994", "url": "https://glygen.org/publication/PubMed/15592994" } ] }, { "title": "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.", "journal": "Am. J. Hum. Genet.", "date": "2008", "authors": "Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" }, { "database": "Reactome", "id": "R-HSA-5619076", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619076" } ], "reference": [ { "type": "PubMed", "id": "18674745", "url": "https://glygen.org/publication/PubMed/18674745" } ] }, { "title": "Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2017", "authors": "Ramet L, Zimmermann J, Bersot T, Poirel O, De Gois S, Silm K, Sakae DY, Mansouri-Guilani N, Bourque MJ, Trudeau LE, Pietrancosta N, Daumas S, Bernard V, Rosenmund C, El Mestikawy S", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" } ], "reference": [ { "type": "PubMed", "id": "28314816", "url": "https://glygen.org/publication/PubMed/28314816" } ] }, { "title": "Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.", "journal": "Gene", "date": "2017", "authors": "Ryu N, Lee S, Park HJ, Lee B, Kwon TJ, Bok J, Park CI, Lee KY, Baek JI, Kim UK", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" } ], "reference": [ { "type": "PubMed", "id": "28647561", "url": "https://glygen.org/publication/PubMed/28647561" } ] }, { "title": "Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior.", "journal": "Molecular pharmacology", "date": "2020", "authors": "Ibrahim KS, Abd-Elrahman KS, El Mestikawy S, Ferguson SSG", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" } ], "reference": [ { "type": "PubMed", "id": "32873747", "url": "https://glygen.org/publication/PubMed/32873747" } ] }, { "title": "Vesicular Glutamate Transporters (SLCA17 A6, 7, 8) Control Synaptic Phosphate Levels.", "journal": "Cell Rep.", "date": "2021", "authors": "Jahn R., Ahnert-Hilger G., Cheret C., Ganzella M., Preobraschenski J.", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "reference": [ { "type": "PubMed", "id": "33440152", "url": "https://glygen.org/publication/PubMed/33440152" } ] }, { "title": "The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.", "journal": "Neuroreport", "date": "2021", "authors": "Qi Y, Gong S, Liu K, Song Y", "evidence": [ { "database": "RefSeq", "id": "NP_001138760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760" } ], "reference": [ { "type": "PubMed", "id": "34145196", "url": "https://glygen.org/publication/PubMed/34145196" } ] }, { "title": "Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23.", "journal": "Genomics", "date": "1993", "authors": "Chong SS, Kristjansson K, Zoghbi HY, Hughes MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "8288239", "url": "https://glygen.org/publication/PubMed/8288239" } ] }, { "title": "Molecular cloning, expression, and chromosomal localization of a human brain-specific Na(+)-dependent inorganic phosphate cotransporter.", "journal": "Journal of neurochemistry", "date": "1996", "authors": "Ni B, Du Y, Wu X, DeHoff BS, Rosteck PR Jr, Paul SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "8632143", "url": "https://glygen.org/publication/PubMed/8632143" } ] }, { "title": "Cloning of the human sodium lodide symporter.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Smanik PA, Liu Q, Furminger TL, Ryu K, Xing S, Mazzaferri EL, Jhiang SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "8806637", "url": "https://glygen.org/publication/PubMed/8806637" } ] }, { "title": "Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.", "journal": "Nature genetics", "date": "1997", "authors": "Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N", "evidence": [ { "database": "Reactome", "id": "R-HSA-428643", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643" } ], "reference": [ { "type": "PubMed", "id": "9171822", "url": "https://glygen.org/publication/PubMed/9171822" } ] } ], "pathway": [ { "id": "hsa:246213", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:246213", "resource": "KEGG Pathway" }, { "id": "R-HSA-428643", "name": "Organic anion transporters", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428643", "resource": "Reactome", "description": "Organic anion transporters" }, { "id": "R-HSA-5619076", "name": "Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619076", "resource": "Reactome", "description": "Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)" }, { "id": "R-HSA-9662360", "name": "Sensory processing of sound by inner hair cells of the cochlea", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360", "resource": "Reactome", "description": "Sensory processing of sound by inner hair cells of the cochlea" } ], "orthologs": [ { "uniprot_canonical_ac": "Q7TSF2-1", "protein_name": "Vesicular glutamate transporter 3", "gene_name": "Slc17a8", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPFNAFDTFKEKILKPGKEGVKNAVGDSLGILQRKLDGTNEEGDAIELSEEGRPVQTSRARAPVCDCSCCGIPKRYIIAVMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIVTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARVHYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWASVFYIYGMFGIIWYMFWLLQAYECPAVHPTISNEERTYIETSIGEGANLASLSKFNTPWRRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRKILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTKHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQDWADPENLSEEKCGIIDQDELAEETELNHEAFVSPRKKMSYGATTQNCEVQKTDRRQQRESAFEGEEPLSYQNEEDFSETS", "length": 588 }, "evidence": [ { "id": "45228437", "url": "http://www.informatics.jax.org/homology/45228437", "database": "MGI" }, { "id": "Q8NDX2", "url": "https://omabrowser.org/oma/group/Q8NDX2/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BFU8-1", "protein_name": "Vesicular glutamate transporter 3", "gene_name": "Slc17a8", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTNEEEDAIELNEEGRPVQTSRAHRPVCDCSCCGIPKRYICDCSCCGIPKRYIIAVMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPETVGLIHGSFFWGYIVTQIPGGFISNKFAASRVFGAAIFLTSTLNMFIPSAARVHYGCVMGVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWASVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNAERTYIETSIGEGANLASLSKFNTPWRRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRKILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTKHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQDWADPENLSEDKCGIIDQDELAEETELNHETFVSPRKKMSYGATTQNCEVQKTEWRQQRESAFDGEEPLSYQAEGDFSETS", "length": 601 }, "evidence": [ { "id": "45228437", "url": "http://www.informatics.jax.org/homology/45228437", "database": "MGI" }, { "id": "Q8NDX2", "url": "https://omabrowser.org/oma/group/Q8NDX2/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transporter activity", "id": "GO:0005313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005313", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "pmid": "" }, { "name": "sodium:phosphate symporter activity", "id": "GO:0005436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005436", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "pmid": "" }, { "name": "L-glutamate uniporter activity", "id": "GO:0140788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140788", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "Q8NDX2", "url": "https://www.uniprot.org/uniprot/Q8NDX2" } ], "pmid": "" }, { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": 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