{ "uniprot_canonical_ac": "Q8CDD9-1", "uniprot_ac": "Q8CDD9", "uniprot_id": "LRIF1_MOUSE", "mass": { "chemical_mass": 82998.0, "monoisotopic_mass": 82998.0 }, "refseq": { "ac": "NP_001034567", "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034567" }, "gene_names": [ { "name": "Lrif1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8CDD9", "id": "Q8CDD9" }, { "name": "2010012G17Rik; 4933421E11Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273614", "id": "NP_001273614" }, { "name": "4933421E11Rik", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8CDD9", "id": "Q8CDD9" }, { "name": "Lrif1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273614", "id": "NP_001273614" } ], "protein_names": [ { "name": "Ligand-dependent nuclear receptor-interacting factor 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8CDD9" }, { "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034577", "id": "NP_001034577" }, { "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273614", "id": "NP_001273614" }, { "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034567", "id": "NP_001034567" } ], "function": [ { "annotation": "Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin. Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases.", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9#function" }, { "database": "UniProtKB", "id": "Q5T3J3", "url": "https://www.uniprot.org/uniprot/Q5T3J3#function" } ] } ], "disease": [ { "disease_id": "DOID:11727", "recommended_name": { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "facioscapulohumeral muscular dystrophy", "description": "" }, "synonyms": [ { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "Landouzy Dejerine muscular dystrophy", "description": "" }, { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "Landouzy-Dejerine muscular dystrophy", "description": "" }, { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "Muscular dystrophy, Landouzy-Dejerine", "description": "" } ], "evidence": [ { "id": "11727", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11727" } ] } ], "snv": [ { "evidence": [ { "id": "rs33722280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33722280" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 607, "end_pos": 607, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "3", "chr_pos": "106641952", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs251642181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251642181" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 609, "end_pos": 609, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "3", "chr_pos": "106642722", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S609", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388650044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388650044" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 88, "end_pos": 88, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "3", "chr_pos": "106639179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S88", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Lrif1", "url": "https://www.uniprot.org/uniprot/Q8CDD9", "locus": { "chromosome": "3", "start_pos": 106643893, "end_pos": 106592303, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000056260", "url": "https://www.ensembl.org/id/ENSMUSG00000056260" } ] } } ], "crossref": [ { "id": "ENSMUSG00000056260", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000056260", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "321000", "url": "https://www.ncbi.nlm.nih.gov/gene/321000", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR026191", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026191", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:321000", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:321000", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2445214", "url": "http://www.informatics.jax.org/marker/MGI:2445214", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q8CDD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CDD9", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FIAGCMY", "url": "https://omabrowser.org/oma/group/FIAGCMY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5357329at2759", "url": "http://www.orthodb.org/?query=5357329at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR16131", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16131", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR16131:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16131:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15741", "url": "http://pfam.xfam.org/family/PF15741", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8CDD9", "url": "http://purl.obolibrary.org/obo/PR_Q8CDD9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001034577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034577", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D3YWW6", "url": "https://www.uniprot.org/uniprot/D3YWW6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YWW6-1", "url": "https://www.uniprot.org/uniprot/D3YWW6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z005", "url": "https://www.uniprot.org/uniprot/D3Z005", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z005-1", "url": "https://www.uniprot.org/uniprot/D3Z005-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z1H3", "url": "https://www.uniprot.org/uniprot/D3Z1H3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z1H3-1", "url": "https://www.uniprot.org/uniprot/D3Z1H3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3X9P5", "url": "https://www.uniprot.org/uniprot/G3X9P5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3X9P5-1", "url": "https://www.uniprot.org/uniprot/G3X9P5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E8M8", "url": "https://www.uniprot.org/uniprot/G5E8M8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E8M8-1", "url": "https://www.uniprot.org/uniprot/G5E8M8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8CDD9-1", "url": "https://www.uniprot.org/uniprot/Q8CDD9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8CDD9-2", "url": "https://www.uniprot.org/uniprot/Q8CDD9-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSNSLQSVILKTAEEKSGSRCISGCMYQVVPTIGSDGKKLLQLLPISKSSGNLIPVVQSPVMSHGLKANTEKPVQVTFQTQISSSSTSASVQLPVFQPANTTKCFFTGAIDTTGKDRVTSVRTGNFTPPVSNIQNHGVKIHKLTRQTFTIPPSTQNDSSHFIFNTPSLLPNVNSSILPSGNHLKIPAHAEVKSVLASSLPPLVQQKILGTATTSTSGTVEASQIPTVVYVHPVNSVKFVVTKKTQTIYPKPVTFNTLQIPPNVATETQLKGGQHPQAAPVNSIFQEYLQPGIPCIIPVKSSNNVATKVLNTFVGRKNLGDNTIDTPLLNTNSSGRTHSVSEPIKDNALIMFNGKVWLNEKGTCGLPSKIDQQNSVSSDIPLKDSSQLVSSSIVTEISREILNSVLVKSKSFQLKTKSLSNSQLASMANLRAEKNEKVERPSFSVTNPHTMNQSTHCLKQSKTVFINPVFPDGFRTGQNAPRKGNLVQNIEKICSSVDAATVTSQQCVFRDQESQTQYEMASIVKKEIQEKGNNKKYSQGSHTNIKASCLKNDAEFKKLFGLTKDLRVCLTRIPDHLSSGKSFNSFNSLMKSSSYKDANIVVKKEEKKQSFSKKRKAETMKMGNTKKIKIENADDTVMSIMNGTDVASSQPLSSILPTSDISQHNIVTSHSTTREDKRTEAEHCSHEKQEKGTLSSSTSFEQSTFLNKNFMEDIFPVTPPELEETIRDEKIRRLKQILREKEAALEELRKKMYQKQ", "length": 755, "header": "sp|Q8CDD9-1|LRIF1_MOUSE Isoform 1 of Ligand-dependent nuclear receptor-interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=2 CANONICAL=Q8CDD9-1" }, "isoforms": [ { "isoform_ac": "D3YWW6-1", "url": "", "sequence": { "sequence": "MYQVVPTIGSDGKKLLQLLPISKSSGNLIPVVQSPVMSHGLKANTEKPVQVTFQTQISSSSTSASVQLPVFQPANTTKCFFTGAIDTTGKDRVTSVRTGNFTPPVSNIQNHGVKIHKLTRQTFTIPPSTQNDSSHFIFNTPSLLPNVNSSILPSGNHLKIPAHAEVKSVLASSLPPLV", "length": 178, "header": "tr|D3YWW6-1|LRIF1_MOUSE Computationally mapped isoform of Ligand-dependent nuclear receptor-interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=1 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106639525, "end_pos": 106638992, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000130105.2", "url": "https://www.ensembl.org/id/ENSMUST00000130105.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000115110.2", "url": "https://www.ensembl.org/id/ENSMUSP00000115110.2" } ] } }, { "isoform_ac": "D3Z005-1", "url": "", "sequence": { "sequence": "MYQVVPTIGSDGKKLLQLLPISKSSGNLIPVVQSPVMSHGLKANTEKPVQVTFQTQISSSSTSASVQLPVFQPANTTKCFFTGAIDTTGKDRVTSVRTGNFTPPVSNIQNHGVKIHKLTRQTFT", "length": 124, "header": "tr|D3Z005-1|LRIF1_MOUSE Computationally mapped isoform of Ligand-dependent nuclear receptor-interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=1 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106639363, "end_pos": 106638992, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000154973.2", "url": "https://www.ensembl.org/id/ENSMUST00000154973.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000120350.2", "url": "https://www.ensembl.org/id/ENSMUSP00000120350.2" } ] } }, { "isoform_ac": "D3Z1H3-1", "url": "", "sequence": { "sequence": "MYQVVPTIGSDGKKLLQLLPISKSSGNLIPVVQSPVMSHGLKANTEKPVQVTFQTQISSSSTSASVQLPVFQPANTTKCFFTGAIDTTGKDRVTSVRTGNFTPPVSNIQNHGVKIHKLTRQTFTIPPST", "length": 129, "header": "tr|D3Z1H3-1|D3Z1H3_MOUSE Computationally mapped isoform of Ligand dependent nuclear receptor interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=4 SV=1 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106639378, "end_pos": 106638992, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000150513.2", "url": "https://www.ensembl.org/id/ENSMUST00000150513.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000119815.2", "url": "https://www.ensembl.org/id/ENSMUSP00000119815.2" } ] } }, { "isoform_ac": "G3X9P5-1", "url": "", "sequence": { "sequence": "MAGGTRARSRANKAKPTQYEMASIVKKEIQEKGNNKKYSQGSHTNIKASCLKNDAEFKKLFGLTKDLRVCLTRIPDHLSSGKSFNSFNSLMKSSSYKDANIVVKKEEKKQSFSKKRKAETMKMGNTKKIKIENADDTVMSIMNGTDVASSQPLSSILPTSDISQHNIVTSHSTTREDKRTEAEHCSHEKQEKGTLSSSTSFEQSTFLNKNFMEDIFPVTPPELEETIRDEKIRRLKQILREKEAALEELRKKMYQKQ", "length": 257, "header": "tr|G3X9P5-1|G3X9P5_MOUSE Computationally mapped isoform of Ligand dependent nuclear receptor interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=1 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106643161, "end_pos": 106592402, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000098751.10", "url": "https://www.ensembl.org/id/ENSMUST00000098751.10" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000096347.4", "url": "https://www.ensembl.org/id/ENSMUSP00000096347.4" } ] } }, { "isoform_ac": "G5E8M8-1", "url": "", "sequence": { "sequence": "MASIVKKEIQEKGNNKKYSQGSHTNIKASCLKNDAEFKKLFGLTKDLRVCLTRIPDHLSSGKSFNSFNSLMKSSSYKDANIVVKKEEKKQSFSKKRKAETMKMGNTKKIKIENADDTVMSIMNGTDVASSQPLSSILPTSDISQHNIVTSHSTTREDKRTEAEHCSHEKQEKGTLSSSTSFEQSTFLNKNFMEDIFPVTPPELEETIRDEKIRRLKQILREKEAALEELRKKMYQKQ", "length": 237, "header": "tr|G5E8M8-1|LRIF1_MOUSE Computationally mapped isoform of Ligand-dependent nuclear receptor-interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=1 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106643161, "end_pos": 106641686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000106736.3", "url": "https://www.ensembl.org/id/ENSMUST00000106736.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000102347.3", "url": "https://www.ensembl.org/id/ENSMUSP00000102347.3" } ] } }, { "isoform_ac": "Q8CDD9-1", "url": "", "sequence": { "sequence": "MSNSLQSVILKTAEEKSGSRCISGCMYQVVPTIGSDGKKLLQLLPISKSSGNLIPVVQSPVMSHGLKANTEKPVQVTFQTQISSSSTSASVQLPVFQPANTTKCFFTGAIDTTGKDRVTSVRTGNFTPPVSNIQNHGVKIHKLTRQTFTIPPSTQNDSSHFIFNTPSLLPNVNSSILPSGNHLKIPAHAEVKSVLASSLPPLVQQKILGTATTSTSGTVEASQIPTVVYVHPVNSVKFVVTKKTQTIYPKPVTFNTLQIPPNVATETQLKGGQHPQAAPVNSIFQEYLQPGIPCIIPVKSSNNVATKVLNTFVGRKNLGDNTIDTPLLNTNSSGRTHSVSEPIKDNALIMFNGKVWLNEKGTCGLPSKIDQQNSVSSDIPLKDSSQLVSSSIVTEISREILNSVLVKSKSFQLKTKSLSNSQLASMANLRAEKNEKVERPSFSVTNPHTMNQSTHCLKQSKTVFINPVFPDGFRTGQNAPRKGNLVQNIEKICSSVDAATVTSQQCVFRDQESQTQYEMASIVKKEIQEKGNNKKYSQGSHTNIKASCLKNDAEFKKLFGLTKDLRVCLTRIPDHLSSGKSFNSFNSLMKSSSYKDANIVVKKEEKKQSFSKKRKAETMKMGNTKKIKIENADDTVMSIMNGTDVASSQPLSSILPTSDISQHNIVTSHSTTREDKRTEAEHCSHEKQEKGTLSSSTSFEQSTFLNKNFMEDIFPVTPPELEETIRDEKIRRLKQILREKEAALEELRKKMYQKQ", "length": 755, "header": "sp|Q8CDD9-1|LRIF1_MOUSE Isoform 1 of Ligand-dependent nuclear receptor-interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=2 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106643161, "end_pos": 106629361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000098750", "url": "https://www.ensembl.org/id/ENSMUST00000098750" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000096346", "url": "https://www.ensembl.org/id/ENSMUSP00000096346" } ] } }, { "isoform_ac": "Q8CDD9-2", "url": "", "sequence": { "sequence": "MSNSLQSVILKTAEEKSGSRCISGCMYQVVPTIGSDGKKLLQLLPISKSSGNLIPVVQSPVMSHGLKANTEKPVQVTFQTQISSSSTSASVQLPVFQPANTTKCFFTGAIDTTGKDRVTSVRTGNFTPPVSNIQNHGVKIHKLTRQTFTIPPSTQNDSSHFIFNTPSLLPNVNSSILPSGNHLKIPAHAEVKSVLASSLPPLVQQKILGTATTSTSGTVEASQIPTVVYVHPVNSVKFVVTKKTQTIYPKPVTFNTLQIPPNVATETQLKGGQHPQAAPVNSIFQEYLQPGIPCIIPVKSSNNVATKVLNTFVGRKNLGDNTIDTPLLNTNSSGRTHSVSEPIKDNALIMFNGKVWLNEKGTCGLPSKIDQQNSVSSDIPLKDSSQLVSSSIVTEISREILNSVLVKSKSFQLKTKSLSNSQLASMANLRAEKNEKVERPSFSVTNPHTMNQSTHCLKQSKTVFINPVFPDGFRTGQNAPRKGNLVQNIEKICSSVDAATVTSQQCVFRDQESQLAKSIRQSQSQNKVQKIWTVIGLQR", "length": 539, "header": "sp|Q8CDD9-2|LRIF1_MOUSE Isoform 2 of Ligand-dependent nuclear receptor-interacting factor 1 OS=Mus musculus OX=10090 GN=Lrif1 PE=1 SV=2 CANONICAL=Q8CDD9-1" }, "locus": { "chromosome": "3", "start_pos": 106640727, "end_pos": 106629361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000127003", "url": "https://www.ensembl.org/id/ENSMUST00000127003" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000114163", "url": "https://www.ensembl.org/id/ENSMUSP00000114163" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 47, "start_aa": "Ser", "end_pos": 47, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser47", "evidence": [ { "id": "Q8CDD9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CDD9" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" } ] } ], "phosphorylation": [ { "start_pos": 391, "end_pos": 391, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "site_lbl": "Ser391" }, { "start_pos": 419, "end_pos": 419, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "site_lbl": "Ser419" }, { "start_pos": 425, "end_pos": 425, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "site_lbl": "Ser425" }, { "start_pos": 584, "end_pos": 584, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "site_lbl": "Ser584" }, { "start_pos": 717, "end_pos": 717, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "site_lbl": "Thr717" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.", "journal": "Mol. Cell. Biol.", "date": "2015", "authors": "Brideau NJ, Coker H, Gendrel AV, Siebert CA, Bezstarosti K, Demmers J, Poot RA, Nesterova TB, Brockdorff N", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "reference": [ { "type": "PubMed", "id": "26391951", "url": "https://glygen.org/publication/PubMed/26391951" } ] }, { "title": "Chemoproteomic and Transcriptomic Analysis Reveals that O-GlcNAc Regulates Mouse Embryonic Stem Cell Fate through the Pluripotency Network.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2023-02-27", "authors": "Hao Yi, Li Xiang, Qin Ke, Shi Yujie, He Yanwen, Zhang Che, Cheng Bo, Zhang Xiwen, Hu Guangyu, Liang Shuyu, Tang Qi, Chen Xing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8CDD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CDD9" } ], "reference": [ { "type": "PubMed", "id": "36852467", "url": "https://glygen.org/publication/PubMed/36852467" } ] } ], "pathway": [ { "id": "mmu:321000", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:321000", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q499M7-1", "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "Lrif1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSNRLQTVFLKTAEEKSGSHCISGCMYQVVPTIGTDGKKLLQLLPIPKSSGNLIPVVQSPVMSHGLKGNTEKPVQVTFQTQISSSSTSASVQLPVLQPANTTKYFLTGTIDTSGKDRVTSMGTGNFTPPISNTQNHGVKIHRLTRQTFTIPPSTQNDSSYFIVNTPSLPANVNSSTLPSGPPLTIPAHAEVKPVLASPLPPLVQQKILGTVTTSTSGTVEASQIPAVFYVSPVNSVKIIVDKKTQNIYHKPVTFSTSQIPPNVATKTQLNSGQHPQAAPVNLIFQEYLQPGIPCLVPVKSSNNVPSKVFNTFVDRKTLGDNTVGTPLLSTNSSSRTQSISVPIKDDGLIMFNGKVLLNKKGTYGLPSKIDQQNSVSSDIPLKDSSQVVSSSLVTEISREVLSSVLVKSKSFQLKTKSLSNSQPAPMAHIKPEKSEKVERPSFSVTSPHTTNQSTHCLKQSKIVFINPVFSDGFRTGQNTPRKENLIQNIRSSVDAATVTSQQCVFRDQEPQTQYEMASILKKDIQERSNKKYSQGNHTKASYLKNDAEFKKIFGLTKDLRVCLTRIPDHLSSTKSFDSFNNLKSSSYKDANVVMKEEKKQSFSKKRNAKPMKKMDYTKRRKIENASDMVMNVMNGTDVANSQLLSSILPISDIAQHNIITSHSTTREDKRTETEHCCHEKQEKGTLSSSTSFEQSNYFNKNYTEDIFPVTPPELEETIRDEKIRRLKQILREKEAALEELRKKMHQKQ", "length": 748 }, "evidence": [ { "id": "45240193", "url": "http://www.informatics.jax.org/homology/45240193", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q5T3J3-1", "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "LRIF1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MSNNLRRVFLKPAEENSGNASRCVSGCMYQVVQTIGSDGKNLLQLLPIPKSSGNLIPLVQSSVMSDALKGNTGKPVQVTFQTQISSSSTSASVQLPIFQPASSSNYFLTRTVDTSEKGRVTSVGTGNFSSSVSKVQSHGVKIDGLTMQTFAVPPSTQKDSSFIVVNTQSLPVTVKSPVLPSGHHLQIPAHAEVKSVPASSLPPSVQQKILATATTSTSGMVEASQMPTVIYVSPVNTVKNVVTKNFQNIYPKPVTEIAKPVILNTTQIPKNVATETQLKGGQHSQAAPVKWIFQDNLQPFTPSLVPVKSSNNVASKILKTFVDRKNLGDNTINMPPLSTIDPSGTRSKNMPIKDNALVMFNGKVYLLAKKGTDVLPSQIDQQNSVSPDTPVRKDTLQTVSSSPVTEISREVVNIVLAKSKSSQMETKSLSNTQLASMANLRAEKNKVEKPSPSTTNPHMNQSSNYLKQSKTLFTNPIFPVGFSTGHNAPRKVTAVIYARKGSVLQSIEKISSSVDATTVTSQQCVFRDQEPKIHNEMASTSDKGAQGRNDKKDSQGRSNKALHLKSDAEFKKIFGLTKDLRVCLTRIPDHLTSGEGFDSFSSLVKSGTYKETEFMVKEGERKQQNFDKKRKAKTNKKMDHIKKRKTENAYNAIINGEANVTGSQLLSSILPTSDVSQHNILTSHSKTRQEKRTEMEYYTHEKQEKGTLNSNAAYEQSHFFNKNYTEDIFPVTPPELEETIRDEKIRRLKQVLREKEAALEEMRKKMHQK", "length": 769 }, "evidence": [ { "id": "45240193", "url": "http://www.informatics.jax.org/homology/45240193", "database": "MGI" }, { "id": "Q8CDD9", "url": "https://omabrowser.org/oma/group/Q8CDD9/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" }, { "name": "dosage compensation by inactivation of X chromosome", "id": "GO:0009048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009048", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" }, { "name": "Barr body", "id": "GO:0001740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001740", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD9", "url": "https://www.uniprot.org/uniprot/Q8CDD9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 100, "end_pos": 102, "annotation": "n_glycosylation_sequon" }, { "start_pos": 125, "end_pos": 127, "annotation": "n_glycosylation_sequon" }, { "start_pos": 156, "end_pos": 158, "annotation": "n_glycosylation_sequon" }, { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 331, "end_pos": 333, "annotation": "n_glycosylation_sequon" }, { "start_pos": 451, "end_pos": 453, "annotation": "n_glycosylation_sequon" }, { "start_pos": 641, "end_pos": 643, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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_predicted", "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_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": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }