{ "uniprot_canonical_ac": "Q9Y277-1", "uniprot_ac": "Q9Y277", "uniprot_id": "VDAC3_HUMAN", "mass": { "chemical_mass": 30659.0, "monoisotopic_mass": 30659.0 }, "refseq": { "ac": "NP_001129166", "name": "voltage-dependent anion-selective channel protein 3 isoform 2", "summary": "This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" }, "gene_names": [ { "name": "VDAC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Y277", "id": "Q9Y277" }, { "name": "HD-VDAC3; VDAC-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166", "id": "NP_001129166" }, { "name": "VDAC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166", "id": "NP_001129166" } ], "protein_names": [ { "name": "Voltage-dependent anion-selective channel protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Y277" }, { "name": "Outer mitochondrial membrane protein porin 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y277" }, { "name": "VDAC-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y277" }, { "name": "hVDAC3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y277" }, { "name": "voltage-dependent anion-selective channel protein 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166", "id": "NP_001129166" }, { "name": "voltage-dependent anion-selective channel protein 3; outer mitochondrial membrane protein porin 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166", "id": "NP_001129166" } ], "function": [ { "annotation": "A High Resolution Mass Spectrometry Study Reveals the Potential of Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion Selective Channel Isoforms (hVDACs). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" }, { "database": "PubMed", "id": "32098132", "url": "https://glygen.org/publication/PubMed/32098132" } ] }, { "annotation": "A lower affinity to cytosolic proteins reveals VDAC3 isoform-specific role in mitochondrial biology.", "evidence": [ { "database": "RefSeq", "id": "NP_001129166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" }, { "database": "PubMed", "id": "31935282", "url": "https://glygen.org/publication/PubMed/31935282" } ] }, { "annotation": "Expression of voltage-dependent anion channels in endometrial cancer and its potential prognostic significance.", "evidence": [ { "database": "RefSeq", "id": "NP_001129166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" }, { "database": "PubMed", "id": "32829673", "url": "https://glygen.org/publication/PubMed/32829673" } ] }, { "annotation": "Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity). Involved in male fertility and sperm mitochondrial sheath formation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9Y277", "url": "https://www.uniprot.org/uniprot/Q9Y277#function" }, { "database": "UniProtKB", "id": "Q60931", "url": "https://www.uniprot.org/uniprot/Q60931#function" }, { "database": "UniProtKB", "id": "P21796", "url": "https://www.uniprot.org/uniprot/P21796#function" } ] }, { "annotation": "Specific Post-Translational Modifications of VDAC3 in ALS-SOD1 Model Cells Identified by High-Resolution Mass Spectrometry. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" }, { "database": "PubMed", "id": "36555496", "url": "https://glygen.org/publication/PubMed/36555496" } ] }, { "annotation": "This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001129166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" } ] }, { "annotation": "VDAC3 role in the melanoma drug resistance to erastin.Erastin-induced resistance mediated by FOXM1-Nedd4-VDAC2/VDAC3 negative feedback loop in melanoma.Nedd4 ubiquitinates and degrades VDAC3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166" }, { "database": "PubMed", "id": "31974380", "url": "https://glygen.org/publication/PubMed/31974380" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs141938008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141938008" }, { "id": "rs141938008", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141938008" }, { "id": "rs141938008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141938008" }, { "id": "rs141938008", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141938008#frequency_tab" }, { "id": "rs141938008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141938008" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 70, "end_pos": 70, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFT->NFT); o-glyco-site-loss (T->N).", "chr_id": "8", "chr_pos": "42398803", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.001198", "site_lbl": "T70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9Y277" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 109, "end_pos": 109, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "8", "chr_pos": "42401791", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K109", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751683750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751683750" }, { "id": "rs751683750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751683750" }, { "id": "rs751683750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751683750" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 132, "end_pos": 132, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "8", "chr_pos": "42401858", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9Y277" }, { "id": "rs752791425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752791425" }, { "id": "rs752791425", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752791425" }, { "id": "rs752791425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752791425#frequency_tab" }, { "id": "rs752791425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752791425" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 170, "end_pos": 170, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFA->NFS).", "chr_id": "8", "chr_pos": "42401972", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A170", "disease": [ { "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 cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic 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"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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9Y277" }, { "id": "rs752791425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752791425" }, { "id": "rs752791425", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752791425" }, { "id": "rs752791425", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752791425" }, { "id": "rs752791425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752791425#frequency_tab" }, { "id": "rs752791425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752791425" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 170, "end_pos": 170, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "8", "chr_pos": "42401972", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A170", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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}, "locus": { "chromosome": "8", "start_pos": 42398740, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518495.5", "url": "https://www.ensembl.org/id/ENST00000518495.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430373.1", "url": "https://www.ensembl.org/id/ENSP00000430373.1" } ] } }, { "isoform_ac": "E5RFP6-1", "url": "", "sequence": { "sequence": "MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVMEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKRDCFSVGLGFELEA", "length": 134, "header": "tr|E5RFP6-1|VDAC3_HUMAN Computationally mapped isoform of Voltage-dependent anion-selective channel protein 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=1 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42405459, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522572.5", "url": "https://www.ensembl.org/id/ENST00000522572.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428029.1", "url": "https://www.ensembl.org/id/ENSP00000428029.1" } ] } }, { "isoform_ac": "E5RHE1-1", "url": "", "sequence": { "sequence": "MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKKEEWEIEGLL", "length": 100, "header": "tr|E5RHE1-1|VDAC3_HUMAN Computationally mapped isoform of Voltage-dependent anion-selective channel protein 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=1 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42401817, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522010.1", "url": "https://www.ensembl.org/id/ENST00000522010.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430908.1", "url": "https://www.ensembl.org/id/ENSP00000430908.1" } ] } }, { "isoform_ac": "E5RHZ6-1", "url": "", "sequence": { "sequence": "MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKRDCFSVGSNVDIDFSGPTIYGWAVLAFEGWLAGYQMSFDTAKSKLS", "length": 165, "header": "tr|E5RHZ6-1|E5RHZ6_HUMAN Computationally mapped isoform of Voltage dependent anion channel 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=1 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42401959, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520115.5", "url": "https://www.ensembl.org/id/ENST00000520115.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428519.1", "url": "https://www.ensembl.org/id/ENSP00000428519.1" } ] } }, { "isoform_ac": "E5RJN6-1", "url": "", "sequence": { "sequence": "MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKRDCFSVGSNVDIDFSGPTIYGWAVLAFEGWLAGYQMSFD", "length": 158, "header": "tr|E5RJN6-1|VDAC3_HUMAN Computationally mapped isoform of Voltage-dependent anion-selective channel protein 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=8 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42401938, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522069.5", "url": "https://www.ensembl.org/id/ENST00000522069.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429006.1", "url": "https://www.ensembl.org/id/ENSP00000429006.1" } ] } }, { "isoform_ac": "E5RK27-1", "url": "", "sequence": { "sequence": "MSSTKDMEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKRDCFSVGSNVDIDFSGPTIYG", "length": 108, "header": "tr|E5RK27-1|E5RK27_HUMAN Computationally mapped isoform of Voltage dependent anion channel 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=1 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42401884, "end_pos": 42394258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518563.5", "url": "https://www.ensembl.org/id/ENST00000518563.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428977.1", "url": "https://www.ensembl.org/id/ENSP00000428977.1" } ] } }, { "isoform_ac": "Q9Y277-1", "url": "", "sequence": { "sequence": "MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKRDCFSVGSNVDIDFSGPTIYGWAVLAFEGWLAGYQMSFDTAKSKLSQNNFALGYKAADFQLHTHVNDGTEFGGSIYQKVNEKIETSINLAWTAGSNNTRFGIAAKYMLDCRTSLSAKVNNASLIGLGYTQTLRPGVKLTLSALIDGKNFSAGGHKVGLGFELEA", "length": 283, "header": "sp|Q9Y277-1|VDAC3_HUMAN Isoform 1 of Voltage-dependent anion-selective channel protein 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=1 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42405459, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000022615.9", "url": "https://www.ensembl.org/id/ENST00000022615.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000022615.4", "url": "https://www.ensembl.org/id/ENSP00000022615.4" } ] } }, { "isoform_ac": "Q9Y277-2", "url": "", "sequence": { "sequence": "MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVMEFSTSGHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKRDCFSVGSNVDIDFSGPTIYGWAVLAFEGWLAGYQMSFDTAKSKLSQNNFALGYKAADFQLHTHVNDGTEFGGSIYQKVNEKIETSINLAWTAGSNNTRFGIAAKYMLDCRTSLSAKVNNASLIGLGYTQTLRPGVKLTLSALIDGKNFSAGGHKVGLGFELEA", "length": 284, "header": "sp|Q9Y277-2|VDAC3_HUMAN Isoform 2 of Voltage-dependent anion-selective channel protein 3 OS=Homo sapiens OX=9606 GN=VDAC3 PE=1 SV=1 CANONICAL=Q9Y277-1" }, "locus": { "chromosome": "8", "start_pos": 42405459, "end_pos": 42394212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521158.5", "url": "https://www.ensembl.org/id/ENST00000521158.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428845.1", "url": "https://www.ensembl.org/id/ENSP00000428845.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 70, "start_aa": "Thr", "end_pos": 70, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr70", "evidence": [ { "id": "Q9Y277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y277" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" } ] } ], "phosphorylation": [ { "start_pos": 195, "end_pos": 195, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y277" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr195" }, { "start_pos": 241, "end_pos": 241, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y277", "url": "https://www.uniprot.org/uniprot/Q9Y277" } ], "site_lbl": "Ser241" }, { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y277", "url": "https://www.uniprot.org/uniprot/Q9Y277" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y277" } ], "site_lbl": "Thr4" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification, functional characterization, and chromosomal localization of USP15, a novel human ubiquitin-specific protease related to the UNP oncoprotein, and a systematic nomenclature for human ubiquitin-specific proteases.", "journal": "Genomics", "date": "1999", "authors": "Baker RT, Wang XW, Woollatt E, White JA, Sutherland GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10444327", "url": "https://glygen.org/publication/PubMed/10444327" } ] }, { "title": "Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis.", "journal": "Mamm. Genome", "date": "1999", "authors": "Towbin J.A., Bowles K.R., Craigen W.J., Decker W.K., Schatte E.C.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y277", "url": "https://www.uniprot.org/uniprot/Q9Y277" } ], "reference": [ { "type": "PubMed", "id": "10501981", "url": "https://glygen.org/publication/PubMed/10501981" } ] }, { "title": "The tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo.", "journal": "Mol. Genet. Metab.", "date": "2000", "authors": "Craigen W.J., Decker W.K.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y277", "url": "https://www.uniprot.org/uniprot/Q9Y277" } ], "reference": [ { "type": "PubMed", "id": "10833333", "url": "https://glygen.org/publication/PubMed/10833333" } ] }, { "title": "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kato M, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10982817", "url": "https://glygen.org/publication/PubMed/10982817" } ] }, { "title": "A novel active site-directed probe specific for deubiquitylating enzymes reveals proteasome association of USP14.", "journal": "The EMBO journal", "date": "2001", "authors": "Borodovsky A, Kessler BM, Casagrande R, Overkleeft HS, Wilkinson KD, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11566882", "url": "https://glygen.org/publication/PubMed/11566882" } ] }, { "title": "Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization.", "journal": "Nature", "date": "2002", "authors": "Li M, Chen D, Shiloh A, Luo J, Nikolaev AY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11923872", "url": "https://glygen.org/publication/PubMed/11923872" } ] }, { "title": "Recombinant expression of the voltage-dependent anion channel enhances the transfer of Ca2+ microdomains to mitochondria.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Rapizzi E, Pinton P, Szabadkai G, Wieckowski MR, Vandecasteele G, Baird G, Tuft RA, Fogarty KE, Rizzuto R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "12438411", "url": "https://glygen.org/publication/PubMed/12438411" } ] }, { "title": "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.", "journal": "Nature", "date": "2003", "authors": "Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917689", "url": "https://glygen.org/publication/PubMed/12917689" } ] }, { "title": "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.", "journal": "Nature", "date": "2003", "authors": "Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917691", "url": "https://glygen.org/publication/PubMed/12917691" } ] }, { "title": "Two isoforms of otubain 1 regulate T cell anergy via GRAIL.", "journal": "Nature immunology", "date": "2004", "authors": "Soares L, Seroogy C, Skrenta H, Anandasabapathy N, Lovelace P, Chung CD, Engleman E, Fathman CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "14661020", "url": "https://glygen.org/publication/PubMed/14661020" } ] }, { "title": "A dynamic role of HAUSP in the p53-Mdm2 pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Li M, Brooks CL, Kon N, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "15053880", "url": "https://glygen.org/publication/PubMed/15053880" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9Y277-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y277-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Electroneutral K+/H+ exchange in mitochondrial membrane vesicles involves Yol027/Letm1 proteins.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Froschauer E, Nowikovsky K, Schweyen RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "15904662", "url": "https://glygen.org/publication/PubMed/15904662" } ] }, { "title": "Loss of HAUSP-mediated deubiquitination contributes to DNA damage-induced destabilization of Hdmx and Hdm2.", "journal": "Molecular cell", "date": "2005", "authors": "Meulmeester E, Maurice MM, Boutell C, Teunisse AF, Ovaa H, Abraham TE, Dirks RW, Jochemsen AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "15916963", "url": "https://glygen.org/publication/PubMed/15916963" } ] }, { "title": "Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB.", "journal": "Cellular signalling", "date": "2006", "authors": "Tzimas C, Michailidou G, Arsenakis M, Kieff E, Mosialos G, Hatzivassiliou EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "16214042", "url": "https://glygen.org/publication/PubMed/16214042" } ] }, { "title": "A role for the deubiquitinating enzyme USP28 in control of the DNA-damage response.", "journal": "Cell", "date": "2006", "authors": "Zhang D, Zaugg K, Mak TW, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "16901786", "url": "https://glygen.org/publication/PubMed/16901786" } ] }, { "title": "FOXO4 transcriptional activity is regulated by monoubiquitination and USP7/HAUSP.", "journal": "Nature cell biology", "date": "2006", "authors": "van der Horst A, de Vries-Smits AM, Brenkman AB, van Triest MH, van den Broek N, Colland F, Maurice MM, Burgering BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "16964248", "url": "https://glygen.org/publication/PubMed/16964248" } ] }, { "title": "Chaperone-mediated coupling of endoplasmic reticulum and mitochondrial Ca2+ channels.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Szabadkai G, Bianchi K, Varnai P, De Stefani D, Wieckowski MR, Cavagna D, Nagy AI, Balla T, Rizzuto R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "17178908", "url": "https://glygen.org/publication/PubMed/17178908" } ] }, { "title": "The deubiquitinating enzyme USP2a regulates the p53 pathway by targeting Mdm2.", "journal": "The EMBO journal", "date": "2007", "authors": "Stevenson LF, Sparks A, Allende-Vega N, Xirodimas DP, Lane DP, Saville MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": 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"R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17873522", "url": "https://glygen.org/publication/PubMed/17873522" } ] }, { "title": "Human USP3 is a chromatin modifier required for S phase progression and genome stability.", "journal": "Current biology : CB", "date": "2007", "authors": "Nicassio F, Corrado N, Vissers JH, Areces LB, Bergink S, Marteijn JA, Geverts B, Houtsmuller AB, Vermeulen W, Di Fiore PP, Citterio E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17980597", "url": "https://glygen.org/publication/PubMed/17980597" } ] }, { "title": "Regulation of early wave of germ cell apoptosis and spermatogenesis by deubiquitinating enzyme CYLD.", "journal": "Developmental cell", "date": "2007", "authors": "Wright A, Reiley WW, Chang M, Jin W, Lee AJ, Zhang M, Sun SC", 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"https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y277" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y277" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y277" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y277" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Specific Post-Translational Modifications of VDAC3 in ALS-SOD1 Model Cells Identified by High-Resolution Mass Spectrometry.", "journal": 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