{ "uniprot_canonical_ac": "A2BE28-1", "ptm_annotation": [], "sequence": { "header": "sp|A2BE28-1|LAS1L_MOUSE Isoform 1 of Ribosomal biogenesis protein LAS1L OS=Mus musculus OX=10090 GN=Las1l PE=1 SV=1 CANONICAL=A2BE28-1", "length": 776, "sequence": "MDRVWRAWDGQSFKENQPESPSARGIVVSWLSRAEWEQVTVYLFCDDHKLQQYALNRITVWRSRLGNELPLAVASTADLVRCKLIDAAGTLGTDELRLLYGMALVRFVNLISERKTKCSNLPLKYLAQEVNIPDWIVELRHNLTHKKMPHINECRRGCYFVLNWLQKTYWSRQLEGSLKETWELDEDQLDAEDPEEEEREIIADDVLEEIPEPQDDDKDEELAVEDDANTKGNEEVASHPEPSSRHKELYEKARELLVSYEEEQFKVLEKHRHLLQAIKVWNNLSPRVQCILEELKSISWENRDAVLDAFLDDGFLIPTFEQLAALQIEYEDGQTEVQKGEVTEPNSHKNIDLNEVLVPKPFSQFWQPLLRGLHSQTFTQALLERMFSELSTVGSTGIRPTYILRWTVELIVANTKTGRNARRFSASQWEARKSWRLFNCSATLDWPQVIESCLGSPCWASPQLLQVVFKAMGQVLPDEEQEKLLRVCSIYTQNGENGLAKAIEGSSSSSTGKAPYTLDTLHEDLQPPGTNCESEESIQQKEQGNLKDVKQEEKKENEEEEKEEEEMEEEEEEEEEEKEEEEEEQEQEEHQEEEQEEEEEEENQKVFQDQMEADVEESDDVEEEEEVDDEEEDEDDDYDDDEEEDRMEVGAFSLAQGSSVFENTRTTSRKREALQGSAWQVSSEDVRWGTFPLGRLPGQTEDPAELMLDNYDTMYLLDQPVIEHRLEPQKSKSSTLSLCCGGSNTNSSSSSSSGNMEGLLWNQGQMHGLKAGLQLF" }, "uniprot_id": "LAS1L_MOUSE", "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17623809", "type": "PubMed", "id": "17623809" } ], "title": "Functional persistence of exonized mammalian-wide interspersed repeat elements (MIRs).", "journal": "Genome research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035.2", "id": "NP_690035.2", "database": "RefSeq" } ], "authors": "Krull M, Petrusma M, Makalowski W, Brosius J, Schmitz J", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22872859", "type": "PubMed", "id": "22872859" } ], "title": "Five friends of methylated chromatin target of protein-arginine-methyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation.", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035.2", "id": "NP_690035.2", "database": "RefSeq" } ], "authors": "Demmers J., Grosveld F., Gillemans N., Vadlamudi R.K., Fanis P., Philipsen S., Pourfarzad F., van Dijk T.B., Aghajanirefah A., Esteghamat F.", "date": "2012" } ], "uniprot_ac": "A2BE28", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2BE28", "type": "synonym", "resource": "RefSeq", "name": "1810030A06Rik; 5830482G23Rik" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2BE28", "type": "synonym", "resource": "RefSeq", "name": "Las1l" }, { "url": "https://www.uniprot.org/uniprot/A2BE28", "type": "recommended", "resource": "UniProtKB", "name": "Las1l" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2BE28#A2BE28-1", "isoform_ac": "A2BE28-1", "locus": { "end_pos": 95935523, "strand": "+", "start_pos": 95956848, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000113864", "id": "ENSMUST00000113864", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000109495", "id": "ENSMUSP00000109495", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2BE28-1|LAS1L_MOUSE Isoform 1 of Ribosomal biogenesis protein LAS1L OS=Mus musculus OX=10090 GN=Las1l PE=1 SV=1 CANONICAL=A2BE28-1", "length": 776, "sequence": "MDRVWRAWDGQSFKENQPESPSARGIVVSWLSRAEWEQVTVYLFCDDHKLQQYALNRITVWRSRLGNELPLAVASTADLVRCKLIDAAGTLGTDELRLLYGMALVRFVNLISERKTKCSNLPLKYLAQEVNIPDWIVELRHNLTHKKMPHINECRRGCYFVLNWLQKTYWSRQLEGSLKETWELDEDQLDAEDPEEEEREIIADDVLEEIPEPQDDDKDEELAVEDDANTKGNEEVASHPEPSSRHKELYEKARELLVSYEEEQFKVLEKHRHLLQAIKVWNNLSPRVQCILEELKSISWENRDAVLDAFLDDGFLIPTFEQLAALQIEYEDGQTEVQKGEVTEPNSHKNIDLNEVLVPKPFSQFWQPLLRGLHSQTFTQALLERMFSELSTVGSTGIRPTYILRWTVELIVANTKTGRNARRFSASQWEARKSWRLFNCSATLDWPQVIESCLGSPCWASPQLLQVVFKAMGQVLPDEEQEKLLRVCSIYTQNGENGLAKAIEGSSSSSTGKAPYTLDTLHEDLQPPGTNCESEESIQQKEQGNLKDVKQEEKKENEEEEKEEEEMEEEEEEEEEEKEEEEEEQEQEEHQEEEQEEEEEEENQKVFQDQMEADVEESDDVEEEEEVDDEEEDEDDDYDDDEEEDRMEVGAFSLAQGSSVFENTRTTSRKREALQGSAWQVSSEDVRWGTFPLGRLPGQTEDPAELMLDNYDTMYLLDQPVIEHRLEPQKSKSSTLSLCCGGSNTNSSSSSSSGNMEGLLWNQGQMHGLKAGLQLF" } }, { "url": "https://www.uniprot.org/uniprot/A2BE28#A2BE28-2", "isoform_ac": "A2BE28-2", "locus": { "end_pos": 95935523, "strand": "+", "start_pos": 95956848, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000079987", "id": "ENSMUST00000079987", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000078901", "id": "ENSMUSP00000078901", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2BE28-2|LAS1L_MOUSE Isoform 2 of Ribosomal biogenesis protein LAS1L OS=Mus musculus OX=10090 GN=Las1l PE=1 SV=1 CANONICAL=A2BE28-1", "length": 759, "sequence": "MDRVWRAWDGQSFKENQPESPSARGIVVSWLSRAEWEQVTVYLFCDDHKLQQYALNRITVWRSRLGNELPLAVASTADLVRCKLIDAAGTLGTDELRLLYGMALVRFVNLISERKTKCSNLPLKYLAQEVNIPDWIVELRHNLTHKKMPHINECRRGCYFVLNWLQKTYWSRQLEGSLKETWELDEDQLDAEDPEEEEREIIADDVLEEIPEPQDDDKDEELAVEDDANTKGNEEVASHPEPSSRHKELYEKARELLVSYEEEQFKVLEKHRHLLQAIKVWNNLSPRVQCILEELKSISWENRDAVLDAFLDDGFLIPTFEQLAALQIEYEENIDLNEVLVPKPFSQFWQPLLRGLHSQTFTQALLERMFSELSTVGSTGIRPTYILRWTVELIVANTKTGRNARRFSASQWEARKSWRLFNCSATLDWPQVIESCLGSPCWASPQLLQVVFKAMGQVLPDEEQEKLLRVCSIYTQNGENGLAKAIEGSSSSSTGKAPYTLDTLHEDLQPPGTNCESEESIQQKEQGNLKDVKQEEKKENEEEEKEEEEMEEEEEEEEEEKEEEEEEQEQEEHQEEEQEEEEEEENQKVFQDQMEADVEESDDVEEEEEVDDEEEDEDDDYDDDEEEDRMEVGAFSLAQGSSVFENTRTTSRKREALQGSAWQVSSEDVRWGTFPLGRLPGQTEDPAELMLDNYDTMYLLDQPVIEHRLEPQKSKSSTLSLCCGGSNTNSSSSSSSGNMEGLLWNQGQMHGLKAGLQLF" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:76130", "resource": "KEGG Pathway", "id": "mmu:76130", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6791226", "description": "Major pathway of rRNA processing in the nucleolus and cytosol", "resource": "Reactome", "id": "R-MMU-6791226", "name": "Major pathway of rRNA processing in the nucleolus and cytosol" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2BE28#function", "annotation": "Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA (By similarity). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28#function", "id": "A2BE28", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035.2", "annotation": "Recruitment of the protein complex 5FMC to Zbp-89, a zinc-finger transcription factor, affects its sumoylation status and transactivation potential.[5FMC]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035.2", "id": "NP_690035.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F7FJR8-1", "protein_name": "LAS1-like, ribosome biogenesis factor", "sequence": { "length": 762, "sequence": "MERVWRAWDGQSVNENQPDSPGVAGMVVSWLSRAEWEQVTVYLFCDDQKLQQYALNRITVWRSRLGHDCVLFTAMSCQCVREHFIHGGGGLPLSEFLILFDLSQSRFVNLISERKSKSCNLPLKYLAHEVNIPEWIVELRHKLTHKKMPHINDCRRGCYFVLHWLQKTFWSRQLEDSLKETWGMEEDQVEADEPEEEETEIIIDDIIEEIPEFQDDDKGEELAVTDDANTKGNEEVASHPELSPRHKELYEKARELLVSYEEEQFKVLEKYRHLLQAIKVWNNLSPRVQGILEELKSISWENRDAVLDAFLDDGFLIPTYEQLAALQIEYEENIDLNEVLVPKPFSQFWQPLLRGLHSQTFTQALLERMFSELSTLGRTGIRPTYILRWTVELIVANTKTGRNARRFSAGQWEARRSWRLFNCSSTLDWPQVIEACLGSPCWASLQLLQVVFKAMGEVLPDEEQEKLLRVCSIYTQNGESGLAKAVEGSSSSSSSSSSTGKAPYTLDTLHQDLQPPATNCESEGNIQQKEQDNLTDVKPEEEEKENVEEEEEEEKEEAEMEEEEKEEEEEQEQEEHQEEEQEEEEEEEEEQKVFQDQMEADAEESDGLGEEEEVDEDEDDDEDDDYDDDDDDDEDGMDMGGFSLLQGSYVLENTRIMSQKREALQGSAWQLSSDDVRWGIFPIGRVPGQTEDPTELMLDNYDTMYLLDQPVLEHRLEPQKSKSSSTLGLCCGSNNNGGVGNMEGLLWNQGQMHGLKAGLQLF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2BE28/", "id": "A2BE28", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Las1l", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9Y4W2-1", "protein_name": "Ribosomal biogenesis protein LAS1L", "sequence": { "length": 734, "sequence": "MSWESGAGPGLGSQGMDLVWSAWYGKCVKGKGSLPLSAHGIVVAWLSRAEWDQVTVYLFCDDHKLQRYALNRITVWRSRSGNELPLAVASTADLIRCKLLDVTGGLGTDELRLLYGMALVRFVNLISERKTKFAKVPLKCLAQEVNIPDWIVDLRHELTHKKMPHINDCRRGCYFVLDWLQKTYWCRQLENSLRETWELEEFREGIEEEDQEEDKNIVVDDITEQKPEPQDDGKSTESDVKADGDSKGSEEVDSHCKKALSHKELYERARELLVSYEEEQFTVLEKFRYLPKAIKAWNNPSPRVECVLAELKGVTCENREAVLDAFLDDGFLVPTFEQLAALQIEYEDGQTEVQRGEGTDPKSHKNVDLNDVLVPKPFSQFWQPLLRGLHSQNFTQALLERMLSELPALGISGIRPTYILRWTVELIVANTKTGRNARRFSAGQWEARRGWRLFNCSASLDWPRMVESCLGSPCWASPQLLRIIFKAMGQGLPDEEQEKLLRICSIYTQSGENSLVQEGSEASPIGKSPYTLDSLYWSVKPASSSFGSEAKAQQQEEQGSVNDVKEEEKEEKEVLPDQVEEEEENDDQEEEEEDEDDEDDEEEDRMEVGPFSTGQESPTAENARLLAQKRGALQGSAWQVSSEDVRWDTFPLGRMPGQTEDPAELMLENYDTMYLLDQPVLEQRLEPSTCKTDTLGLSCGVGSGNCSNSSSSNFEGLLWSQGQLHGLKTGLQLF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/32746", "id": "32746", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2BE28/", "id": "A2BE28", "database": "OMA" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "LAS1L", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035.2", "ac": "NP_690035.2", "name": "ribosomal biogenesis protein LAS1L isoform 2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "endonuclease activity", "id": "GO:0004519" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030687", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "preribosome, large subunit precursor", "id": "GO:0030687" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "MLL1 complex", "id": "GO:0071339" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "Las1 complex", "id": "GO:0090730" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000460", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "maturation of 5.8S rRNA", "id": "GO:0000460" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000470", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "name": "maturation of LSU-rRNA", "id": "GO:0000470" } ], "total": 2, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 144, "annotation": "n_glycosylation_sequon", "start_pos": 142 }, { "end_pos": 285, "annotation": "n_glycosylation_sequon", "start_pos": 283 }, { "end_pos": 441, "annotation": "n_glycosylation_sequon", "start_pos": 439 }, { "end_pos": 748, "annotation": "n_glycosylation_sequon", "start_pos": 746 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000057421", "id": "ENSMUSG00000057421", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/76130", "id": "76130", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2BE28*", "id": "A2BE28", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007174", "id": "IPR007174", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:76130", "id": "mmu:76130", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1923380", "id": "1923380", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/GMDRVWS/", "id": "GMDRVWS", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=263288at2759", "id": "263288at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15002", "id": "PTHR15002", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF04031", "id": "PF04031", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2BE28", "id": "PR_A2BE28", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6791226", "id": "R-MMU-6791226", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035", "id": "NP_690035", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690035.2", "id": "NP_690035.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2BE28-1", "id": "A2BE28-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2BE28-2", "id": "A2BE28-2", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0060814", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0060814", "resource": "Disease Ontology", "description": "", "name": "X-linked intellectual disability-gynecomastia-obesity syndrome", "id": "DOID:0060814" }, { "url": "http://disease-ontology.org/term/DOID:0060814", "resource": "Disease Ontology", "description": "", "name": "MRXS6", "id": "DOID:0060814" }, { "url": "http://disease-ontology.org/term/DOID:0060814", "resource": "Disease Ontology", "description": "", "name": "WTS", "id": "DOID:0060814" }, { "url": "http://disease-ontology.org/term/DOID:0060814", "resource": "Disease Ontology", "description": "", "name": "mental retardation, X-linked, syndromic 6", "id": "DOID:0060814" }, { "url": "http://disease-ontology.org/term/DOID:0060814", "resource": "Disease Ontology", "description": "", "name": "mental retardation, X-linked, with gynecomastia and obesity", "id": "DOID:0060814" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.", "name": "Wilson-Turner syndrome", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "X-linked intellectual disability-gynecomastia-obesity syndrome", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "MRXS6", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "Wilson-TURNER X-linked mental retardation syndrome", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "WTS", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "Wilson Turner mental retardation syndrome (formerly)", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "mental retardation, X-linked, syndromic 6", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "Wilson-TURNER X-linked mental retardation syndrome; WTS", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "mental retardation, X-linked, with gynecomastia and obesity", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "mental retardation, X-linked, syndromic 6 (formerly)", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "X-linked intellectual disability - gynecomastia - obesity", "id": "MONDO:0010665" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010665", "resource": "MONDO", "description": "", "name": "mental retardation, X-linked, with gynecomastia and obesity (formerly)", "id": "MONDO:0010665" }, { "url": "https://www.omim.org/entry/309585", "resource": "MIM", "description": "Wilson-Turner X-linked mental retardation syndrome", "name": "Wilson-Turner X-linked mental retardation syndrome", "id": "MIM:309585" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0060814", "resource": "Disease Ontology", "description": "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.", "name": "Wilson-Turner syndrome", "id": "DOID:0060814" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060814#disease-associations", "id": "0060814", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [ { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "start_pos": 425, "end_pos": 425, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "start_pos": 509, "end_pos": 509, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "id": "A2BE28", "database": "UniProtKB" } ], "start_pos": 658, "end_pos": 658, "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 89414.0, "chemical_mass": 89414.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2BE28", "name": "Las1l", "locus": { "end_pos": 95935335, "strand": "-", "start_pos": 95956962, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000057421", "id": "ENSMUSG00000057421", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2BE28#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Protein LAS1 homolog" }, { "url": "https://www.uniprot.org/uniprot/A2BE28#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Ribosomal biogenesis protein LAS1L" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2BE28", "type": "synonym", "resource": "RefSeq", "name": "protein LAS1 homolog; ribosomal biogenesis protein LAS1L" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2BE28", "type": "synonym", "resource": "RefSeq", "name": "ribosomal biogenesis protein LAS1L isoform 2" } ] }