{ "uniprot_canonical_ac": "Q8BGQ1-1", "uniprot_ac": "Q8BGQ1", "uniprot_id": "SPE39_MOUSE", "mass": { "chemical_mass": 56625.0, "monoisotopic_mass": 56625.0 }, "refseq": { "ac": "NP_001136052", "name": "spermatogenesis-defective protein 39 homolog isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052" }, "gene_names": [ { "name": "Vipas39", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8BGQ1", "id": "Q8BGQ1" }, { "name": "6720456H09Rik; 9330175H22Rik; hSPE-39; SPE-39; Spe39; Vipar", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052", "id": "NP_001136052" }, { "name": "Spe39", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8BGQ1", "id": "Q8BGQ1" }, { "name": "Vipar", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8BGQ1", "id": "Q8BGQ1" }, { "name": "Vipas39", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052", "id": "NP_001136052" } ], "protein_names": [ { "name": "Spermatogenesis-defective protein 39 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8BGQ1" }, { "name": "VPS33B-interacting protein in apical-basolateral polarity regulator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8BGQ1" }, { "name": "VPS33B-interacting protein in polarity and apical restriction", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8BGQ1" }, { "name": "hSPE-39", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8BGQ1" }, { "name": "protein spe-39 homolog; VPS33B-interacting protein in polarity and apical restriction; VPS33B-interacting protein in apical-basolateral polarity regulator; spermatogenesis-defective protein 39 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052", "id": "NP_001136052" }, { "name": "spermatogenesis-defective protein 39 homolog isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052", "id": "NP_001136052" } ], "function": [ { "annotation": "Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be independent of VPS33B (By similarity). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1#function" }, { "database": "UniProtKB", "id": "Q23288", "url": "https://www.uniprot.org/uniprot/Q23288#function" }, { "database": "PubMed", "id": "20190753", "url": "https://glygen.org/publication/PubMed/20190753" }, { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1#function" } ] }, { "annotation": "VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function", "evidence": [ { "database": "RefSeq", "id": "NP_001136052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052" }, { "database": "PubMed", "id": "29409756", "url": "https://glygen.org/publication/PubMed/29409756" } ] } ], "disease": [ { "disease_id": "DOID:0050763", "recommended_name": { "id": "DOID:0050763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050763", "name": "ARC syndrome", "description": "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0050763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050763", "name": "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS", "description": "" }, { "id": "DOID:0050763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050763", "name": "Arthrogryposis-renal dysfunction-cholestasis", "description": "" }, { "id": "DOID:0050763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050763", "name": "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome", "description": "" }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "arthrogryposis, renal dysfunction, and cholestasis 1", "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome", "description": "" }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "arthrogryposis, renal dysfunction, and cholestasis 1", "description": "" }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "arthrogryposis, renal dysfunction, and cholestasis type 1", "description": "" }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B", "description": "" }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "ARCS1", "description": "" }, { "id": "MONDO:0008822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008822", "name": "Arc syndrome", "description": "" }, { "id": "MIM:208085", "resource": "MIM", "url": "https://www.omim.org/entry/208085", "name": "Arthrogryposis, renal dysfunction and cholestasis syndrome 1", "description": "Arthrogryposis, renal dysfunction and cholestasis syndrome 1" } ], "evidence": [ { "id": "0050763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050763" } ] }, { "disease_id": "DOID:0111354", "recommended_name": { "id": "DOID:0111354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111354", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111354", "name": "ARCS2", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis, renal dysfunction, and cholestasis type 2", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "ARCS2", "description": "" }, { "id": "MIM:613404", "resource": "MIM", "url": "https://www.omim.org/entry/613404", "name": "Arthrogryposis, renal dysfunction and cholestasis syndrome 2", "description": "Arthrogryposis, renal dysfunction and cholestasis syndrome 2" } ], "evidence": [ { "id": "0111354", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111354" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Vipas39", "url": "https://www.uniprot.org/uniprot/Q8BGQ1", "locus": { "chromosome": "12", "start_pos": 87285642, "end_pos": 87313030, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000021038", "url": "https://www.ensembl.org/id/ENSMUSG00000021038" } ] } } ], "crossref": [ { "id": "ENSMUSG00000021038", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000021038", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "104799", "url": "https://www.ncbi.nlm.nih.gov/gene/104799", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q8BGQ1", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q8BGQ1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006925", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006925", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:104799", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:104799", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2144805", "url": "http://www.informatics.jax.org/marker/MGI:2144805", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "YWNRSSR", "url": "https://omabrowser.org/oma/group/YWNRSSR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2945298at2759", "url": "http://www.orthodb.org/?query=2945298at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13364", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13364", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13364:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13364:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04840", "url": "http://pfam.xfam.org/family/PF04840", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8BGQ1", "url": "http://purl.obolibrary.org/obo/PR_Q8BGQ1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001136052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BGQ1-1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BGQ1-2", "url": "https://www.uniprot.org/uniprot/Q8BGQ1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDIVDDDDDDDLERVSWTGEPVGSISWSIKETAGSSGSTPEGREQLKGRNSFYTQLPKPPSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSLSDTVQRLRRGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRAEELALSHYREHLNIQDPEKRKEFLKTCIGLPFSAEDAAHVQDHYTLLERQIIIEANDRHLESSGQTDIFRKHPRKASILNMPLVTTLFYACFYHYTESEGTFSSPINLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNSAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTCRDLKDRQQLLAYRSKVDKGSAEEEKIDAILSSSQIRWKN", "length": 491, "header": "sp|Q8BGQ1-1|SPE39_MOUSE Isoform 1 of Spermatogenesis-defective protein 39 homolog OS=Mus musculus OX=10090 GN=Vipas39 PE=1 SV=1 CANONICAL=Q8BGQ1-1" }, "isoforms": [ { "isoform_ac": "Q8BGQ1-1", "url": "", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDIVDDDDDDDLERVSWTGEPVGSISWSIKETAGSSGSTPEGREQLKGRNSFYTQLPKPPSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSLSDTVQRLRRGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRAEELALSHYREHLNIQDPEKRKEFLKTCIGLPFSAEDAAHVQDHYTLLERQIIIEANDRHLESSGQTDIFRKHPRKASILNMPLVTTLFYACFYHYTESEGTFSSPINLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNSAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTCRDLKDRQQLLAYRSKVDKGSAEEEKIDAILSSSQIRWKN", "length": 491, "header": "sp|Q8BGQ1-1|SPE39_MOUSE Isoform 1 of Spermatogenesis-defective protein 39 homolog OS=Mus musculus OX=10090 GN=Vipas39 PE=1 SV=1 CANONICAL=Q8BGQ1-1" }, "locus": { "chromosome": "12", "start_pos": 87310771, "end_pos": 87286593, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000072744", "url": "https://www.ensembl.org/id/ENSMUST00000072744" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000072527", "url": "https://www.ensembl.org/id/ENSMUSP00000072527" } ] } }, { "isoform_ac": "Q8BGQ1-2", "url": "", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDIVDDDDDDDLERVSWTGEPVGSISWSIKETAGSSGSTPEGREQLKGRNSFYTQLPKPPSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRAEELALSHYREHLNIQDPEKRKEFLKTCIGLPFSAEDAAHVQDHYTLLERQIIIEANDRHLESSGQTDIFRKHPRKASILNMPLVTTLFYACFYHYTESEGTFSSPINLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNSAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTCRDLKDRQQLLAYRSKVDKGSAEEEKIDAILSSSQIRWKN", "length": 472, "header": "sp|Q8BGQ1-2|SPE39_MOUSE Isoform 2 of Spermatogenesis-defective protein 39 homolog OS=Mus musculus OX=10090 GN=Vipas39 PE=1 SV=1 CANONICAL=Q8BGQ1-1" }, "locus": { "chromosome": "12", "start_pos": 87310771, "end_pos": 87286593, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000179379", "url": "https://www.ensembl.org/id/ENSMUST00000179379" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000137190", "url": "https://www.ensembl.org/id/ENSMUSP00000137190" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 115, "end_pos": 115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" } ], "site_lbl": "Thr115" }, { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "phospho.ELM", "id": "Q8BGQ1", "url": "http://phospho.elm.eu.org/byAccession/Q8BGQ1.html" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ], "site_lbl": "Ser119" }, { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "phospho.ELM", "id": "Q8BGQ1", "url": "http://phospho.elm.eu.org/byAccession/Q8BGQ1.html" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" } ], "site_lbl": "Ser122" }, { "start_pos": 128, "end_pos": 128, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "site_lbl": "Ser128" }, { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "site_lbl": "Thr130" }, { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "phospho.ELM", "id": "Q8BGQ1", "url": "http://phospho.elm.eu.org/byAccession/Q8BGQ1.html" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" } ], "site_lbl": "Thr21" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Phosphoproteomic analysis of the developing mouse brain.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Ballif BA, Villen J, Beausoleil SA, Schwartz D, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" } ], "reference": [ { "type": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] }, { "title": "Large-scale phosphorylation analysis of mouse liver.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Villen J, Beausoleil SA, Gerber SA, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" } ], "reference": [ { "type": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ] }, { "title": "Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.", "journal": "Nat. Genet.", "date": "2010", "authors": "Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "reference": [ { "type": "PubMed", "id": "20190753", "url": "https://glygen.org/publication/PubMed/20190753" } ] }, { "title": "A tissue-specific atlas of mouse protein phosphorylation and expression.", "journal": "Cell", "date": "2010", "authors": "Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" }, { "database": "iPTMnet", "id": "Q8BGQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGQ1" } ], "reference": [ { "type": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] }, { "title": "VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2018", "authors": "Rogerson C, Gissen P", "evidence": [ { "database": "RefSeq", "id": "NP_001136052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136052" } ], "reference": [ { "type": "PubMed", "id": "29409756", "url": "https://glygen.org/publication/PubMed/29409756" } ] } ], "pathway": [ { "id": "mmu:104799", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:104799", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5PQN6-1", "protein_name": "Spermatogenesis-defective protein 39 homolog", "gene_name": "Vipas39", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWTGEPVGSISWSIKETAGSSGSTSEGREQMKGRNSFYTQLPKPPSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKTYSPELGRPKGEYRDYSNDWSLSDTVRRLRQGKVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPEKRKEFLKTCIGLPFSAEDSAHVQDQYTLLERQIIIEANDRHLESSGQTEIFRKHPRKASILNMPLVTTLFYACFYHYTESEGTFSSPVNLKKTFKIPDRQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNSAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTCRDLKDRQQLLAYRSKVDKGSAEEEKIDVILSSSQIRWKN", "length": 460 }, "evidence": [ { "id": "45226158", "url": "http://www.informatics.jax.org/homology/45226158", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9H9C1-1", "protein_name": "Spermatogenesis-defective protein 39 homolog", "gene_name": "VIPAS39", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETAGNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN", "length": 493 }, "evidence": [ { "id": "45226158", "url": "http://www.informatics.jax.org/homology/45226158", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9VAG4-1", "protein_name": "Vacuolar protein sorting-associated protein 16B", "gene_name": "Vps16B", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": 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"database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "pmid": "" }, { "name": "vesicle tethering complex", "id": "GO:0099023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099023", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ1", "url": "https://www.uniprot.org/uniprot/Q8BGQ1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 13, "end_pos": 15, "annotation": 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