{ "uniprot_canonical_ac": "A2AKQ0-1", "sequence": { "header": "sp|A2AKQ0-1|S35D1_MOUSE Isoform 1 of UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter OS=Mus musculus OX=10090 GN=Slc35d1 PE=2 SV=2 CANONICAL=A2AKQ0-1", "length": 355, "sequence": "MAEVHRRQHAPVKGEAPAKSSTHRDEEELGMAPAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKTLRVVKFPDFDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGALLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYVFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAMEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEASNKLDTKGKGAV" }, "uniprot_id": "S35D1_MOUSE", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter isoform 2", "UDP-GlcA/UDP-GalNAc transporter; solute carrier family 35 member D1; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter" ], "uniprotkb": [ "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter", "UDP-GlcA/UDP-GalNAc transporter", "Solute carrier family 35 member D1" ] }, "gene": { "refseq": [ "Slc35d1", "AI834976", "C330011J09", "mKIAA0260", "UGTREL7" ], "uniprotkb": [ "Slc35d1", "AI834976", "C330011J09", "mKIAA0260", "UGTREL7" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "recommendedname": { "full": "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; UDP-GlcA/UDP-GalNAc transporter; Solute carrier family 35 member D1.", "short": "UDP-GlcA/UDP-GalNAc transporter" }, "publication": [ { "title": "Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17952091", "journal": "Nature medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808400.1", "id": "NP_808400.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AKQ0/publications", "id": "A2AKQ0", "database": "UniProtKB" } ], "authors": "Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S", "date": "2007", "pmid": "17952091" }, { "title": "Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12819125", "journal": "Genome research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808400.1", "id": "NP_808400.1", "database": "RefSeq" } ], "authors": "Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J, Hayashizaki Y", "date": "2003", "pmid": "12819125" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0#A2AKQ0-1", "isoform_ac": "A2AKQ0-1", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A2AKQ0-1|S35D1_MOUSE Isoform 1 of UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter OS=Mus musculus OX=10090 GN=Slc35d1 PE=2 SV=2 CANONICAL=A2AKQ0-1", "length": 355, "sequence": "MAEVHRRQHAPVKGEAPAKSSTHRDEEELGMAPAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKTLRVVKFPDFDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGALLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYVFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAMEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEASNKLDTKGKGAV" } }, { "url": "https://www.uniprot.org/uniprot/A2AKQ0#A0A217FL58-1", "isoform_ac": "A0A217FL58-1", "locus": { "end_pos": 103173675, "start_pos": 103214803, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000036195", "id": "ENSMUST00000036195", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000037617", "id": "ENSMUSP00000037617", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A217FL58-1|S35D1_MOUSE Computationally mapped isoform of UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter OS=Mus musculus OX=10090 GN=Slc35d1 PE=2 SV=1 CANONICAL=A2AKQ0-1", "length": 334, "sequence": "THRDEEELGMAPAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKTLRVVKFPDFDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGALLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYVFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAMEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEASNKLDTKGKGAV" } }, { "url": "https://www.uniprot.org/uniprot/A2AKQ0#A2AKQ0-2", "isoform_ac": "A2AKQ0-2", "locus": { "end_pos": 103173675, "start_pos": 103214866, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000150285", "id": "ENSMUST00000150285", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000122124", "id": "ENSMUSP00000122124", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AKQ0-2|S35D1_MOUSE Isoform 2 of UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter OS=Mus musculus OX=10090 GN=Slc35d1 PE=2 SV=2 CANONICAL=A2AKQ0-1", "length": 306, "sequence": "MAEVHRRQHAPVKGEAPAKSSTHRDEEELGMAPAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKTLRVVKFPDFDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGALLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYVFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEASNKLDTKGKGAV" } }, { "url": "https://www.uniprot.org/uniprot/A2AKQ0#V9GX08-1", "isoform_ac": "V9GX08-1", "locus": { "end_pos": 103208050, "start_pos": 103214803, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000183432", "id": "ENSMUST00000183432", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000138926", "id": "ENSMUSP00000138926", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|V9GX08-1|S35D1_MOUSE Computationally mapped isoform of UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter OS=Mus musculus OX=10090 GN=Slc35d1 PE=2 SV=1 CANONICAL=A2AKQ0-1", "length": 211, "sequence": "THRDEEELGMAPAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKTLRVVKFPDFDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGALLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYVFILINDVLTAANGAYVKQKLDSKVSSTLQLLHWMLKDGGESVE" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:242585", "resource": "KEGG Pathway", "id": "mmu:242585", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-173599", "resource": "Reactome", "id": "R-MMU-173599", "name": "Formation of the active cofactor, UDP-glucuronate" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-727802", "resource": "Reactome", "id": "R-MMU-727802", "name": "Transport of nucleotide sugars" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0#function", "annotation": "Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen. Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0#function", "id": "A2AKQ0", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808400.1", "annotation": "Deficient mice develop a lethal form of skeletal dysplasia with severe shortening of limbs and facial structures.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808400.1", "id": "NP_808400.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZVG2-1", "protein_name": "Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (Predicted); Solute carrier family 35 member D1.", "sequence": { "length": 325, "sequence": "MAPAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKALRVVKFPDFDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGALLKKTFSWGIKMTVFAMIIGAFIAASSDLAFDLEGYVFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAMEFEGWADALFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSETSNKLDTKGKGAV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/22870", "id": "22870", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9NTN3-1", "protein_name": "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; UDP-GlcA/UDP-GalNAc transporter; UDP-galactose transporter-related protein 7; UGTrel7; Solute carrier family 35 member D1.", "sequence": { "length": 355, "sequence": "MAEVHRRQHARVKGEAPAKSSTLRDEEELGMASAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKALRVVKFPDLDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGVLLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYAFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAVEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEANNKLDIKGKGAV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/22870", "id": "22870", "database": "MGI" } ], "organism": "Homo sapiens", "tax_id": 9606 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808400.1", "ac": "NP_808400.1", "name": "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter isoform 2; UDP-GlcA/UDP-GalNAc transporter; solute carrier family 35 member D1; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "transmembrane transporter activity", "id": "GO:0022857" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "antiporter activity", "id": "GO:0015297" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015165", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "pyrimidine nucleotide-sugar transmembrane transporter activity", "id": "GO:0015165" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005461", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "UDP-glucuronic acid transmembrane transporter activity", "id": "GO:0005461" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005462", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "UDP-N-acetylglucosamine transmembrane transporter activity", "id": "GO:0005462" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005463", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "UDP-N-acetylgalactosamine transmembrane transporter activity", "id": "GO:0005463" } ], "total": 6, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "Golgi apparatus", "id": "GO:0005794" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090481", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "pyrimidine nucleotide-sugar transmembrane transport", "id": "GO:0090481" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030206", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "chondroitin sulfate biosynthetic process", "id": "GO:0030206" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "embryonic skeletal system development", "id": "GO:0048706" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008643", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "id": "A2AKQ0", "database": "UniProtKB" } ], "name": "carbohydrate transport", "id": "GO:0008643" } ], "total": 4, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 62, "annotation": "n_glycosylation_sequon", "start_pos": 60 }, { "end_pos": 320, "annotation": "n_glycosylation_sequon", "start_pos": 318 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808400.1", "id": "NP_808400.1", "database": "RefSeq" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-173599", "id": "R-MMU-173599", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-727802", "id": "R-MMU-727802", "database": "Reactome" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:242585", "id": "mmu:242585", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000028521", "id": "ENSMUSG00000028521", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004853", "id": "IPR004853", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF03151", "id": "PF03151", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2AKQ0", "id": "PR_A2AKQ0", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/242585", "id": "242585", "database": "GeneID" }, { "url": "http://www.informatics.jax.org/marker/MGI:2140361", "id": "2140361", "database": "MGI" } ], "expression_disease": [], "uniprot_ac": "A2AKQ0", "disease": [], "mass": { "monoisotopic_mass": 39272.0, "chemical_mass": 39272.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AKQ0", "name": "Slc35d1; AI834976; C330011J09; mKIAA0260; UGTREL7.", "locus": { "end_pos": 103170649, "start_pos": 103215164, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000028521", "id": "ENSMUSG00000028521", "database": "Ensembl Gene" } ] } } ] }