{ "uniprot_canonical_ac": "Q4VC17-1", "uniprot_ac": "Q4VC17", "uniprot_id": "ATS18_MOUSE", "mass": { "chemical_mass": 135244.0, "monoisotopic_mass": 135244.0 }, "refseq": { "ac": "NP_766054", "name": "A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform a precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" }, "gene_names": [ { "name": "Adamts18", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q4VC17", "id": "Q4VC17" }, { "name": "9630038L21; ADAMTS21; E130314N14Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054", "id": "NP_766054" }, { "name": "Adamts18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054", "id": "NP_766054" } ], "protein_names": [ { "name": "A disintegrin and metalloproteinase with thrombospondin motifs 18", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q4VC17" }, { "name": "3.4.24.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q4VC17" }, { "name": "A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054", "id": "NP_766054" }, { "name": "ADAM-TS 18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q4VC17" }, { "name": "ADAM-TS18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q4VC17" }, { "name": "ADAMTS-18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q4VC17" }, { "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18; a disintegrin and metalloproteinase with thrombospondin motifs 18; a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054", "id": "NP_766054" } ], "function": [ { "annotation": "ADAMTS18 deficiency leads to preputial gland hypoplasia and fibrosis in male mice.", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" }, { "database": "PubMed", "id": "34388417", "url": "https://glygen.org/publication/PubMed/34388417" } ] }, { "annotation": "ADAMTS18 regulates early branching morphogenesis of lacrimal gland and has a significant association with the risk of dry eye in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" }, { "database": "PubMed", "id": "35240198", "url": "https://glygen.org/publication/PubMed/35240198" } ] }, { "annotation": "ADAMTS18 regulates vaginal opening through influencing the fusion of Mullerian duct and apoptosis of vaginal epithelial cells in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" }, { "database": "PubMed", "id": "34271244", "url": "https://glygen.org/publication/PubMed/34271244" } ] }, { "annotation": "Adamts18 Deficiency Causes Spontaneous SMG Fibrogenesis in Adult Mice.", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" }, { "database": "PubMed", "id": "34323105", "url": "https://glygen.org/publication/PubMed/34323105" } ] }, { "annotation": "Adamts18 is expressed in the lens and retina in the developing murine eye.", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" }, { "database": "PubMed", "id": "21862674", "url": "https://glygen.org/publication/PubMed/21862674" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs3388995324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995324" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 865, "end_pos": 865, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->KVT).", "chr_id": "8", "chr_pos": "114441062", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N865", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Adamts18", "url": "https://www.uniprot.org/uniprot/Q4VC17", "locus": { "chromosome": "8", "start_pos": 114423758, "end_pos": 114575370, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000053399", "url": "https://www.ensembl.org/id/ENSMUSG00000053399" } ] } } ], "crossref": [ { "id": "ENSMUSG00000053399", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000053399", "database": "Bgee", "categories": [ "Gene Expression" ] }, { 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"Protein Classification" ] }, { "id": "IPR010909", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010909", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013273", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013273", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024079", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024079", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036383", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036383", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041645", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041645", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045371", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045371", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:208936", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:208936", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2442600", "url": "http://www.informatics.jax.org/marker/MGI:2442600", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "ICELVGC", "url": "https://omabrowser.org/oma/group/ICELVGC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2910701at2759", "url": "http://www.orthodb.org/?query=2910701at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13723", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13723", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13723:SF167", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13723:SF167", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00090", "url": "http://pfam.xfam.org/family/PF00090", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01421", "url": "http://pfam.xfam.org/family/PF01421", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01562", "url": "http://pfam.xfam.org/family/PF01562", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05986", "url": "http://pfam.xfam.org/family/PF05986", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08686", "url": "http://pfam.xfam.org/family/PF08686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17771", "url": "http://pfam.xfam.org/family/PF17771", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19030", "url": "http://pfam.xfam.org/family/PF19030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19236", "url": "http://pfam.xfam.org/family/PF19236", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q4VC17", "url": "http://purl.obolibrary.org/obo/PR_Q4VC17", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-5173214", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5173214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1D5RLA5", "url": "https://www.uniprot.org/uniprot/A0A1D5RLA5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1D5RLA5-1", "url": "https://www.uniprot.org/uniprot/A0A1D5RLA5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1D5RLE1", "url": "https://www.uniprot.org/uniprot/A0A1D5RLE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1D5RLE1-1", "url": "https://www.uniprot.org/uniprot/A0A1D5RLE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4VC17-1", "url": "https://www.uniprot.org/uniprot/Q4VC17-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MECALLCLCALRAAGPGPPWGPAGLGRLAKALQLCCFCCASVAVALASDSGSSGGSGLNDDYVFVVPVEVDSGGSYISHDILHHRKRRSAHGASNSLHYRVSAFGQDLHLELKPSAILSSHFRVQVLGKDGASETREPEVPQCLYQGFIRNDSSSSVAVSTCAGLSGLIRTRDNEFLISPLPQLLAQEHNYSSPAGHHPHVLYKRTAEKRVRWYQDYPGSQRTYPGHSPSHTPPASQSQEPEYSHRRWQKRHFCGRRKKYAPKPPAEDAYLRFDEYGGTGRPRRSAGKSQNGLNVETLVVADAKMVEKHGKDDVTTYILTVMNMVSSLFKDGTIGSDINIVVVSLILLEEEPEGLLINHHADQSLNSFCQWQSALVGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSCTINEDTGLGLAFTIAHESGHNFGMVHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQYLKKFLSTPQAGCLVDEPKQTGQYKYPDKLPGQIYDADMQCKWQFGAKAKLCSLGVMKDICKSLWCHRVGHRCETKFMPAAEGTACGLSMWCRQGQCVKLGELGPRPIHGQWSAWSKWSECSRTCGGGVKFQERHCSNPKPQYGGKYCPGSSRIYKLCNINPCPENSLDFRAQQCAEYNNKPFRGWLYRWKPYTKVEEEDRCKLYCKAENFEFFFAMSGKVKDGTPCSPHRNDVCIDGICELVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLSQHKANEYYPVVTIPAGARSIEIQELQLSSSYLAVRSLSQKYYLTGGWSIDWPGDFTFAGTTFEYQRSFNRPERLYAPGPTNETLVFEILTQGKNPGIAWKYALPKVMNVTQPATKRYHHTWRTVQSDCSVTCGGGYISIKAICLRDQHTQVNSSFCSVRTKPATEPKICNAFSCPAYWLPGEWSACSKSCAGGQQSRKIRCVQKKPFQKEEAVLHSLCPVSTPTQVQVCNSHACPPEWSPSPWSQCSKTCGRGVRRREVLCKSPAAETLPESLCSSSPRPEAQEGCVLGRCPKNNRLQWIASAWSECSATCGLGVRKRELKCVEKTLQGKLITFPERRCRNIKKPSLELEEACNQRTCPVYSMAVASWYSSPWQQCTVTCGGGVQTRSVHCMQQGRPSSSCLLHQKPPVLRACNTNFCPAPEKKDDPSCVDFFSWCHLVPQHGVCNHKFYGKQCCRSCTRKS", "length": 1219, "header": "sp|Q4VC17-1|ATS18_MOUSE Isoform 1 of A disintegrin and metalloproteinase with thrombospondin motifs 18 OS=Mus musculus OX=10090 GN=Adamts18 PE=2 SV=2 CANONICAL=Q4VC17-1" }, "isoforms": [ { "isoform_ac": "A0A1D5RLA5-1", "url": "", "sequence": { "sequence": "XGKDGASETREPEVPQCLYQGFIRNDSSSSVAVSTCAGLSGLIRTRDNEFLISPLPQLLAQEHNYSSPAGHHPHVLYKRTAEKRVRWYQDYPGSQRTYPGHSPSHTPPASQSQEPEYSHRRWQKRHFCGRRKKCICPQASCRGRLSTL", "length": 148, "header": "tr|A0A1D5RLA5-1|A0A1D5RLA5_MOUSE Computationally mapped isoform of A disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18 OS=Mus musculus OX=10090 GN=Adamts18 PE=4 SV=1 CANONICAL=Q4VC17-1" }, "locus": { "chromosome": "8", "start_pos": 114571601, "end_pos": 114502040, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000212437.2", "url": "https://www.ensembl.org/id/ENSMUST00000212437.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000148288.2", "url": "https://www.ensembl.org/id/ENSMUSP00000148288.2" } ] } }, { "isoform_ac": "A0A1D5RLE1-1", "url": "", "sequence": { "sequence": "AVSTCAGLSGLIRTRDNEFLISPLPQLLAQEHNYSSPAGHHPHVLYKRTAEKRVRWYQDYPGSQRTYPGHSPSHTPPASQSQEPEYSHRRWQKRHFCGRRKKCICPQASCRGRLSTL", "length": 117, "header": "tr|A0A1D5RLE1-1|ATS18_MOUSE Computationally mapped isoform of A disintegrin and metalloproteinase with thrombospondin motifs 18 OS=Mus musculus OX=10090 GN=Adamts18 PE=2 SV=1 CANONICAL=Q4VC17-1" }, "locus": { "chromosome": "8", "start_pos": 114571510, "end_pos": 114502042, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000212665.2", "url": "https://www.ensembl.org/id/ENSMUST00000212665.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000148330.2", "url": "https://www.ensembl.org/id/ENSMUSP00000148330.2" } ] } }, { "isoform_ac": "Q4VC17-1", "url": "", "sequence": { "sequence": "MECALLCLCALRAAGPGPPWGPAGLGRLAKALQLCCFCCASVAVALASDSGSSGGSGLNDDYVFVVPVEVDSGGSYISHDILHHRKRRSAHGASNSLHYRVSAFGQDLHLELKPSAILSSHFRVQVLGKDGASETREPEVPQCLYQGFIRNDSSSSVAVSTCAGLSGLIRTRDNEFLISPLPQLLAQEHNYSSPAGHHPHVLYKRTAEKRVRWYQDYPGSQRTYPGHSPSHTPPASQSQEPEYSHRRWQKRHFCGRRKKYAPKPPAEDAYLRFDEYGGTGRPRRSAGKSQNGLNVETLVVADAKMVEKHGKDDVTTYILTVMNMVSSLFKDGTIGSDINIVVVSLILLEEEPEGLLINHHADQSLNSFCQWQSALVGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSCTINEDTGLGLAFTIAHESGHNFGMVHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQYLKKFLSTPQAGCLVDEPKQTGQYKYPDKLPGQIYDADMQCKWQFGAKAKLCSLGVMKDICKSLWCHRVGHRCETKFMPAAEGTACGLSMWCRQGQCVKLGELGPRPIHGQWSAWSKWSECSRTCGGGVKFQERHCSNPKPQYGGKYCPGSSRIYKLCNINPCPENSLDFRAQQCAEYNNKPFRGWLYRWKPYTKVEEEDRCKLYCKAENFEFFFAMSGKVKDGTPCSPHRNDVCIDGICELVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLSQHKANEYYPVVTIPAGARSIEIQELQLSSSYLAVRSLSQKYYLTGGWSIDWPGDFTFAGTTFEYQRSFNRPERLYAPGPTNETLVFEILTQGKNPGIAWKYALPKVMNVTQPATKRYHHTWRTVQSDCSVTCGGGYISIKAICLRDQHTQVNSSFCSVRTKPATEPKICNAFSCPAYWLPGEWSACSKSCAGGQQSRKIRCVQKKPFQKEEAVLHSLCPVSTPTQVQVCNSHACPPEWSPSPWSQCSKTCGRGVRRREVLCKSPAAETLPESLCSSSPRPEAQEGCVLGRCPKNNRLQWIASAWSECSATCGLGVRKRELKCVEKTLQGKLITFPERRCRNIKKPSLELEEACNQRTCPVYSMAVASWYSSPWQQCTVTCGGGVQTRSVHCMQQGRPSSSCLLHQKPPVLRACNTNFCPAPEKKDDPSCVDFFSWCHLVPQHGVCNHKFYGKQCCRSCTRKS", "length": 1219, "header": "sp|Q4VC17-1|ATS18_MOUSE Isoform 1 of A disintegrin and metalloproteinase with thrombospondin motifs 18 OS=Mus musculus OX=10090 GN=Adamts18 PE=2 SV=2 CANONICAL=Q4VC17-1" }, "locus": { "chromosome": "8", "start_pos": 114575108, "end_pos": 114425604, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000093113", "url": "https://www.ensembl.org/id/ENSMUST00000093113" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000090801", "url": "https://www.ensembl.org/id/ENSMUSP00000090801" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn151", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 745, "start_aa": "Asn", "end_pos": 745, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn745", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 838, "start_aa": "Asn", "end_pos": 838, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn838", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 865, "start_aa": "Asn", "end_pos": 865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn865", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 909, "start_aa": "Asn", "end_pos": 909, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn909", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.", "journal": "Journal of medical genetics", "date": "2011", "authors": "Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" } ], "reference": [ { "type": "PubMed", "id": "21862674", "url": "https://glygen.org/publication/PubMed/21862674" } ] }, { "title": "ADAMTS18 regulates vaginal opening through influencing the fusion of Mullerian duct and apoptosis of vaginal epithelial cells in mice.", "journal": "Reproductive biology", "date": "2021", "authors": "Lin X, Wang C, Zhang Q, Pan YH, Dang S, Zhang W", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" } ], "reference": [ { "type": "PubMed", "id": "34271244", "url": "https://glygen.org/publication/PubMed/34271244" } ] }, { "title": "Adamts18 Deficiency Causes Spontaneous SMG Fibrogenesis in Adult Mice.", "journal": "Journal of dental research", "date": "2022", "authors": "Yang N, Zhang Q, Ye S, Lu T, Sun M, Wang L, Wang M, Pan YH, Dang S, Zhang W", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" } ], "reference": [ { "type": "PubMed", "id": "34323105", "url": "https://glygen.org/publication/PubMed/34323105" } ] }, { "title": "ADAMTS18 deficiency leads to preputial gland hypoplasia and fibrosis in male mice.", "journal": "Reproductive biology", "date": "2021", "authors": "Lin X, Wu T, Wang L, Dang S, Zhang W", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" } ], "reference": [ { "type": "PubMed", "id": "34388417", "url": "https://glygen.org/publication/PubMed/34388417" } ] }, { "title": "ADAMTS18 regulates early branching morphogenesis of lacrimal gland and has a significant association with the risk of dry eye in mice.", "journal": "Experimental eye research", "date": "2022", "authors": "Wang L, Sun M, Zhang Q, Dang S, Zhang W", "evidence": [ { "database": "RefSeq", "id": "NP_766054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766054" } ], "reference": [ { "type": "PubMed", "id": "35240198", "url": "https://glygen.org/publication/PubMed/35240198" } ] } ], "pathway": [ { "id": "mmu:208936", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:208936", "resource": "KEGG Pathway" }, { "id": "R-MMU-5173214", "name": "O-glycosylation of TSR domain-containing proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5173214", "resource": "Reactome", "description": "O-glycosylation of TSR domain-containing proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z8G4-1", "protein_name": "ADAM metallopeptidase with thrombospondin type 1 motif, 18", "gene_name": "Adamts18", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MECALLFLCALRAAGPGPPWGPAGLARLAKALQLCCLCCASVAVALASDSGSSGGSGLNDDYVFVVPVEVDSGGSYISHDILHNRKRRSAHGASSSVHYRFSAFGQDLHLELKPSALLSSHFIVQVLGKDGASETREPAVVQQCLYQGFIRNDSLSSVAVSTCAGLSGLIRTRDNEFLISPLPQLLAQQHNYSLPAGHHPHVLYKRTAEKRVRRYQDYPASQRTYPGHSPSHTPPASQSQETEYRHRRWQKQHFCGRRKKYAPKPPAEDAYLRFDEYGGAGRPRRSARKSQKGLNVETLVVADAKMVEKHGKDDVTTYILTVMNMVSSLFKDGTIGSDINIVVVSLILLEDEPGGLLINHHADQSLNSFCQWQSALVGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSCTINEDTGLGLAFTIAHESGHNFGMVHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQYLKKFLSTPQAGCLVDEPKQTGQYKYPDKLPGQIYDADTQCKWQFGAKAKLCSLGVMKDICKSLWCHRVGHRCETKFMPAAEGTVCGLSMWCRQGQCVRLGDLGPRPIHGQWSAWSKWSECSRTCGGGVKYQERHCSNPKPQYGGKYCPGSSRIYKLCNINPCHENSLDFRAQQCAEYNNKPFRGWLYRWRPYTKVEEEDRCKLYCKAENFEFFFAMSGKVKDGTPCSPHRNDVCIDGICEPVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLSQHKANEYYPVVTIPAGARSIEIQELELSSSYLAVRSLSQKYYLTGGWNIDWPGDFTFAGTTFEYQRPFNRPERLYAPGPTNETLVFEILTQGKNPGITWKYALPKVMNVTQPAAKRHHHTWRTVQSDCSVTCGGGYISIKAICLRDQNTQVNSSFCSVRTKPATEPKLCNAFSCPAYWLPGEWSTCSKSCAGGQQSRKIRCVQKKPFQKEEAVLHSLCPVSTPTQVQVCNSHACPPEWSPGPWSQCSKTCGRGVRRREVLCTSPAAETLPESLCSSSPKPEAQEGCVLGRCPKNNRLQWIASAWTECSATCGLGVRKREFKCMEKTLQGKLMTFPERRCRNIKKPNLELEETCNRRACPVYSMAAGWYSSPWQQCTVTCGGGVQTRSVHCMQQGRPSSSCLLHQKPPVLRACNTNFCPVPEKRDDPSCVDFFSWCRLVPQHGVCNHKFYGKQCCRSCSRKS", "length": 1219 }, "evidence": [ { "id": "45229159", "url": "http://www.informatics.jax.org/homology/45229159", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8TE60-1", "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 18", "gene_name": "ADAMTS18", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MECALLLACAFPAAGSGPPRGLAGLGRVAKALQLCCLCCASVAAALASDSSSGASGLNDDYVFVTPVEVDSAGSYISHDILHNGRKKRSAQNARSSLHYRFSAFGQELHLELKPSAILSSHFIVQVLGKDGASETQKPEVQQCFYQGFIRNDSSSSVAVSTCAGLSGLIRTRKNEFLISPLPQLLAQEHNYSSPAGHHPHVLYKRTAEEKIQRYRGYPGSGRNYPGYSPSHIPHASQSRETEYHHRRLQKQHFCGRRKKYAPKPPTEDTYLRFDEYGSSGRPRRSAGKSQKGLNVETLVVADKKMVEKHGKGNVTTYILTVMNMVSGLFKDGTIGSDINVVVVSLILLEQEPGGLLINHHADQSLNSFCQWQSALIGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSCTINEDTGLGLAFTIAHESGHNFGMIHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQYLKKFLSTPQAGCLVDEPKQAGQYKYPDKLPGQIYDADTQCKWQFGAKAKLCSLGFVKDICKSLWCHRVGHRCETKFMPAAEGTVCGLSMWCRQGQCVKFGELGPRPIHGQWSAWSKWSECSRTCGGGVKFQERHCNNPKPQYGGLFCPGSSRIYQLCNINPCNENSLDFRAQQCAEYNSKPFRGWFYQWKPYTKVEEEDRCKLYCKAENFEFFFAMSGKVKDGTPCSPNKNDVCIDGVCELVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLNQHKANEYYPVVLIPAGARSIEIQELQVSSSYLAVRSLSQKYYLTGGWSIDWPGEFPFAGTTFEYQRSFNRPERLYAPGPTNETLVFEILMQGKNPGIAWKYALPKVMNGTPPATKRPAYTWSIVQSECSVSCGGGYINVKAICLRDQNTQVNSSFCSAKTKPVTEPKICNAFSCPAYWMPGEWSTCSKACAGGQQSRKIQCVQKKPFQKEEAVLHSLCPVSTPTQVQACNSHACPPQWSLGPWSQCSKTCGRGVRKRELLCKGSAAETLPESQCTSLPRPELQEGCVLGRCPKNSRLQWVASSWSECSATCGLGVRKREMKCSEKGFQGKLITFPERRCRNIKKPNLDLEETCNRRACPAHPVYNMVAGWYSLPWQQCTVTCGGGVQTRSVHCVQQGRPSSSCLLHQKPPVLRACNTNFCPAPEKREDPSCVDFFNWCHLVPQHGVCNHKFYGKQCCKSCTRKI", "length": 1221 }, "evidence": [ { "id": "45229159", "url": "http://www.informatics.jax.org/homology/45229159", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" }, { "name": "negative regulation of platelet aggregation", "id": "GO:0090331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090331", "evidence": [ { "database": "UniProtKB", "id": "Q4VC17", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 151, "end_pos": 153, "annotation": "n_glycosylation_sequon" }, { "start_pos": 190, "end_pos": 192, "annotation": "n_glycosylation_sequon" }, { "start_pos": 745, "end_pos": 747, "annotation": "n_glycosylation_sequon" }, { "start_pos": 838, "end_pos": 840, "annotation": "n_glycosylation_sequon" }, { "start_pos": 865, "end_pos": 867, "annotation": "n_glycosylation_sequon" }, { "start_pos": 909, "end_pos": 911, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-MMU-5173005", "name": "B3GALTL transfers glucose to O-fucosyl-proteins", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P59384-1", "Q769J6-1", "Q8BHT6-1", "Q8BNJ2-1", "Q8C9W3-1", "P57110-1", "P59509-1", "P59511-1", "P97857-1", "Q4VC17-1", "Q68SA9-1", "Q9R001-1", "P58459-1", "Q69Z28-1", "Q811B3-1" ], "evidence": [ { "id": "R-MMU-5173005", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5173005" } ] }, { "id": "R-MMU-5173192", "name": "POFUT2 transfers fucose to TSR domain-containing proteins", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P59384-1", "Q769J6-1", "Q8BNJ2-1", "Q8C9W3-1", "P57110-1", "P59509-1", "P59511-1", "P97857-1", "Q4VC17-1", "Q68SA9-1", "Q9R001-1", "P58459-1", "Q69Z28-1", "Q811B3-1", "Q8VHI3-1" ], "evidence": [ { "id": "R-MMU-5173192", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5173192" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P57110", "gene_name": "Adamts8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P57110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P57110" } ] } ] }, { "uniprot_ac": "P58459", "gene_name": "Adamts10", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P58459", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58459" } ] } ] }, { "uniprot_ac": "P59384", "gene_name": "Adamts15", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P59384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59384" } ] } ] }, { "uniprot_ac": "P59509", "gene_name": "Adamts19", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P59509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59509" } ] } ] }, { "uniprot_ac": "P59511", "gene_name": "Adamts20", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P59511", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59511" } ] } ] }, { "uniprot_ac": "P97857", "gene_name": "Adamts1", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P97857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97857" } ] } ] }, { "uniprot_ac": "Q4VC17", "gene_name": "Adamts18", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q4VC17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4VC17" } ] } ] }, { "uniprot_ac": "Q68SA9", "gene_name": "Adamts7", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q68SA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68SA9" } ] } ] }, { "uniprot_ac": "Q69Z28", "gene_name": "Adamts16", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q69Z28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q69Z28" } ] } ] }, { "uniprot_ac": "Q769J6", "gene_name": "Adamts13", "activity": [ { "ec_number": "3.4.24.87", "activity": "The enzyme cleaves the von Willebrand factor at bond 842-Tyr-|-Met-843 within the A2 domain.", "evidence": [ { "id": "Q769J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q769J6" } ] }, { "ec_number": "3.4.24.87", "activity": "", "evidence": [ { "id": "Q769J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q769J6" } ] } ] }, { "uniprot_ac": "Q811B3", "gene_name": "Adamts12", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q811B3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q811B3" } ] } ] }, { "uniprot_ac": "Q8BHT6", "gene_name": "B3glct", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q8BHT6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BHT6" } ] } ] }, { "uniprot_ac": "Q8BNJ2", "gene_name": "Adamts4", "activity": [ { "ec_number": "3.4.24.82", "activity": "Glutamyl endopeptidase. Bonds cleaved include 370-Thr-Glu-Gly-Glu-|-Ala-Arg-Gly-Ser-377 in the interglobular domain of mammalian aggrecan.", "evidence": [ { "id": "Q8BNJ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BNJ2" } ] }, { "ec_number": "3.4.24.82", "activity": "", "evidence": [ { "id": "Q8BNJ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BNJ2" } ] } ] }, { "uniprot_ac": "Q8C9W3", "gene_name": "Adamts2", "activity": [ { "ec_number": "3.4.24.14", "activity": "Cleaves the N-propeptide of collagen chain alpha1(I) at Pro-|-Gln and of alpha1(II) and alpha2(I) at Ala-|-Gln.", "evidence": [ { "id": "Q8C9W3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C9W3" } ] }, { "ec_number": "3.4.24.14", "activity": "", "evidence": [ { "id": "Q8C9W3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C9W3" } ] } ] }, { "uniprot_ac": "Q8VHI3", "gene_name": "Pofut2", "activity": [ { "ec_number": "2.4.1.221", "activity": "GDP-beta-L-fucose + L-threonyl-[protein] = 3-O-(alpha-L-fucosyl)-L-threonyl-[protein] + GDP + H(+).", "evidence": [ { "id": "Q8VHI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHI3" } ] }, { "ec_number": "2.4.1.221", "activity": "", "evidence": [ { "id": "Q8VHI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHI3" } ] } ] }, { "uniprot_ac": "Q9R001", "gene_name": "Adamts5", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9R001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R001" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }