{ "uniprot_canonical_ac": "A2AQH1-1", "ptm_annotation": [], "sequence": { "header": "tr|A2AQH1-1|A2AQH1_MOUSE Isoform 1 of Ceramide kinase-like isoform 1 OS=Mus musculus OX=10090 GN=Cerkl PE=2 SV=1 CANONICAL=A2AQH1-1", "length": 525, "sequence": "MFRGRRRSRVGALEEAPPENPKAAAEPERVLLRGIFEIRRESCDVALGERALRWRRIQPELPAGGTRHDLLSKEESLELEDIFSVKLKRRCWAKHPGRDTLLGITLFICLKEQRNKLKDSTLDLINFSEDHCDIWFRQFKKILDGFTSRPKALKILLNPQSHRKESVHVYYEKVEPLLKLAGIETDVTITEYEGHALSLLDECELRGFDGVVCVGGDGSASEAARALLLRAQKNAGVEMDCIPTLVGAELPLGFIPAGSTNALAHSLFGTPHVVTATMHIILGHIRSVDVCTFSSAGKLLCFGFSAMFGFGGRTLALAEKYRWMSPSQRRDFAIIKALAKLKPEDCKISFLLAGCSQNKQERKSQRSAESDCGGHWQTIQGQFLNISIMAMPCPCSMAPRGFTPDTRLHNGSMALRVVRNTTRSEFVKHLKRHSSVKNQFNFPFVETYIIEEVKIHPKSNSNGYSPQEEGGNHTTASEHGFPWNVDGDLMEAASEVHIRLHPRLIRLYGGSLEEMNDCKVACDCI" }, "uniprot_id": "A2AQH1_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/14681825", "type": [ "PubMed" ], "id": "14681825" } ], "title": "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Tuson M, Marfany G, Gonzalez-Duarte R", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16183747", "type": [ "PubMed" ], "id": "16183747" } ], "title": "Diversification of stem cell molecular repertoire by alternative splicing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Pritsker M, Doniger TT, Kramer LC, Westcot SE, Lemischka IR", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18555012", "type": [ "PubMed" ], "id": "18555012" } ], "title": "Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Graf C, Niwa S, Muller M, Kinzel B, Bornancin F", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21151604", "type": [ "PubMed" ], "id": "21151604" } ], "title": "Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina.", "journal": "Molecular vision", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Vekslin S, Ben-Yosef T", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21508105", "type": [ "PubMed" ], "id": "21508105" } ], "title": "High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse.", "journal": "Invest. Ophthalmol. Vis. Sci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Gonzalez-Duarte R., Marfany G., Garanto A., de Castro-Miro M., Abril J.F., Permanyer J., Pomares E., Riera M., Sava F.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22549043", "type": [ "PubMed" ], "id": "22549043" } ], "title": "Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.", "journal": "Biochimica et biophysica acta", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Garanto A, Vicente-Tejedor J, Riera M, de la Villa P, Gonzalez-Duarte R, Blanco R, Marfany G", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22678504", "type": [ "PubMed" ], "id": "22678504" } ], "title": "Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.", "journal": "Investigative ophthalmology & visual science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Nevet MJ, Vekslin S, Dizhoor AM, Olshevskaya EV, Tidhar R, Futerman AH, Ben-Yosef T", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23142158", "type": [ "PubMed" ], "id": "23142158" } ], "title": "Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene.", "journal": "Experimental eye research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Mandal NA, Tran JT, Saadi A, Rahman AK, Huynh TP, Klein WH, Cho JH", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23501591", "type": [ "PubMed" ], "id": "23501591" } ], "title": "Specific sphingolipid content decrease in Cerkl knockdown mouse retinas.", "journal": "Experimental eye research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Garanto A, Mandal NA, Egido-Gabas M, Marfany G, Fabrias G, Anderson RE, Casas J, Gonzalez-Duarte R", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24735978", "type": [ "PubMed" ], "id": "24735978" } ], "title": "CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis.", "journal": "Biochimica et biophysica acta", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ], "authors": "Li C, Wang L, Zhang J, Huang M, Wong F, Liu X, Liu F, Cui X, Yang G, Chen J, Liu Y, Wang J, Liao S, Gao M, Hu X, Shu X, Wang Q, Yin Z, Tang Z, Liu M", "date": "2014" } ], "uniprot_ac": "A2AQH1", "site_annotation": [ { "end_pos": 128, "annotation": "n_glycosylation_sequon", "start_pos": 126 }, { "end_pos": 387, "annotation": "n_glycosylation_sequon", "start_pos": 385 }, { "end_pos": 412, "annotation": "n_glycosylation_sequon", "start_pos": 410 }, { "end_pos": 422, "annotation": "n_glycosylation_sequon", "start_pos": 420 }, { "end_pos": 474, "annotation": "n_glycosylation_sequon", "start_pos": 472 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1#A2AQH0-1", "isoform_ac": "A2AQH0-1", "locus": { "end_pos": 79332578, "strand": "+", "start_pos": 79338603, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000156731", "id": "ENSMUST00000156731", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000121353", "id": "ENSMUSP00000121353", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AQH0-1|A2AQH1_MOUSE Computationally mapped isoform of Ceramide kinase-like isoform 1 OS=Mus musculus OX=10090 GN=Cerkl PE=2 SV=1 CANONICAL=A2AQH1-1", "length": 107, "sequence": "RNTTRSEFVKHLKRHSSVKNQFNFPFVETYIIEEVKIHPKSNSNGYSPQEEGGNHTTASEHGFPWNVDGDLMEAASEVHIRLHPRLIRLYGGSLEEMNDCKVACDCI" } }, { "url": "https://www.uniprot.org/uniprot/A2AQH1#A2AQH1-1", "isoform_ac": "A2AQH1-1", "locus": { "end_pos": 79332578, "strand": "+", "start_pos": 79428891, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000143974", "id": "ENSMUST00000143974", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000114325", "id": "ENSMUSP00000114325", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AQH1-1|A2AQH1_MOUSE Isoform 1 of Ceramide kinase-like isoform 1 OS=Mus musculus OX=10090 GN=Cerkl PE=2 SV=1 CANONICAL=A2AQH1-1", "length": 525, "sequence": "MFRGRRRSRVGALEEAPPENPKAAAEPERVLLRGIFEIRRESCDVALGERALRWRRIQPELPAGGTRHDLLSKEESLELEDIFSVKLKRRCWAKHPGRDTLLGITLFICLKEQRNKLKDSTLDLINFSEDHCDIWFRQFKKILDGFTSRPKALKILLNPQSHRKESVHVYYEKVEPLLKLAGIETDVTITEYEGHALSLLDECELRGFDGVVCVGGDGSASEAARALLLRAQKNAGVEMDCIPTLVGAELPLGFIPAGSTNALAHSLFGTPHVVTATMHIILGHIRSVDVCTFSSAGKLLCFGFSAMFGFGGRTLALAEKYRWMSPSQRRDFAIIKALAKLKPEDCKISFLLAGCSQNKQERKSQRSAESDCGGHWQTIQGQFLNISIMAMPCPCSMAPRGFTPDTRLHNGSMALRVVRNTTRSEFVKHLKRHSSVKNQFNFPFVETYIIEEVKIHPKSNSNGYSPQEEGGNHTTASEHGFPWNVDGDLMEAASEVHIRLHPRLIRLYGGSLEEMNDCKVACDCI" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:228094", "resource": "KEGG Pathway", "id": "mmu:228094", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "annotation": "An unexpected multiplicity of CERKL transcriptional start sites (four in each species) plus a high variety of alternative splicing events primarily affecting the 5' half of the gene generate >20 fully validated mRNA isoforms in human and 23 in mouse. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "annotation": "Cerkl-/- knockdown shows a mild retinal phenotype, with increased levels of cellular stress and apoptosis indicators, and clear signs of functional alteration at the ganglion cell layer, but no detectable morphological changes.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "annotation": "In conclusion, the retina had the highest level of Cerkl mRNA and protein expression, which reached its maximum in the adult retina; and its expression decreased in NeuroD1 knock-out retina.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "annotation": "The purpose of this work was to investigate alternative splicing, and the temporal and spatial expression pattern of CERKL in the mouse retina. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "annotation": "This work shows that CerkL does not contribute to phosphorylation of Cer and has no impact on Cer and C16-C1P levels in the retina.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "M0R652-1", "protein_name": "Ceramide kinase-like", "sequence": { "length": 509, "sequence": "MLRRRLGSRVGALEEGAPVGCPELPKAAAEPERVLLRGIFEIGRESCDVALGERALRWQRIRPELPAGGARCDPLGKEESLDLEDIFSVKLKRRCSAKHPGSGTLLGITLFICLKEQQNKLKDSTLDLINFSEDHCDIWFRQFKRILEGFANRPKALKILLNPQSHRKESVQVYYEKVEPLLKLAGIKTDVTITEYEGHALSLLDECELRGFDGVVCVGGDGSASEAAHALLLRAQKNAGVEMDSSPTLTGAQLPLGLIPAGSTNVLAHSLFGIPHVVTATMHIILGHIQSVDVCTFSSAGKLLRFGFSAMFGFGGRTLALAEKYRWMSPSQRRDFAVIKALAKLKKAQRSPESDCGGHWQTIRGQFLNISIMAIPCLCSVAPRGLAPDTRLNNGSMALIAVRNTTRPEFVKHLKSYSSVKNQFNFPFGETYTIEEVKIHPKSNSNGYSPQEEGGHHATVSENGFPWNIDGDLMEAASEVHIRLHPRLIKLYGGSLEEMNDSKVACNCI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AQH1/", "id": "A2AQH1", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Cerkl", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q49MI3-1", "protein_name": "Ceramide kinase-like protein", "sequence": { "length": 558, "sequence": "MPWRRRRNRVSALEGGREEEAPPEAAAVPPALLTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAGDSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILAGFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQMIQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AQH1/", "id": "A2AQH1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/52396", "id": "52396", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "CERKL", "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_001041641.1", "ac": "NP_001041641.1", "name": "ceramide kinase-like protein", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001727", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "lipid kinase activity", "id": "GO:0001727" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046625", "pmid": "23501591", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "sphingolipid binding", "id": "GO:0046625" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003951", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "NAD+ kinase activity", "id": "GO:0003951" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "21151604", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "23142158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "21151604", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "pmid": "21151604", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "perinuclear region of cytoplasm", "id": "GO:0048471" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "pmid": "23142158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "photoreceptor inner segment", "id": "GO:0001917" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "pmid": "23142158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "photoreceptor outer segment", "id": "GO:0001750" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "Golgi apparatus", "id": "GO:0005794" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 11, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "sphingolipid metabolic process", "id": "GO:0006665" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "pmid": "23501591", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "sphingolipid biosynthetic process", "id": "GO:0030148" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "phosphorylation", "id": "GO:0016310" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "negative regulation of apoptotic process", "id": "GO:0043066" } ], "total": 4, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQH1", "type": "synonym", "resource": "RefSeq", "name": "Cerkl" }, { "url": "https://www.uniprot.org/uniprot/A2AQH1", "type": "recommended", "resource": "UniProtKB", "name": "Cerkl" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQH1", "type": "synonym", "resource": "RefSeq", "name": "Gm1958; Rp; Rp26" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000075256", "id": "ENSMUSG00000075256", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/228094", "id": "228094", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001206", "id": "IPR001206", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016064", "id": "IPR016064", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017438", "id": "IPR017438", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:228094", "id": "mmu:228094", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:3037816", "id": "3037816", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/INPSSHK/", "id": "INPSSHK", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=681139at2759", "id": "681139at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00781", "id": "PF00781", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AQH1", "id": "PR_A2AQH1", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0012024", "url": "https://monarchinitiative.org/disease/MONDO:0012024", "resource": "MONDO", "name": "CERKL retinitis pigmentosa", "description": "" }, { "id": "MONDO:0012024", "url": "https://monarchinitiative.org/disease/MONDO:0012024", "resource": "MONDO", "name": "retinitis pigmentosa caused by mutation in CERKL", "description": "" }, { "id": "MONDO:0012024", "url": "https://monarchinitiative.org/disease/MONDO:0012024", "resource": "MONDO", "name": "RP 26", "description": "" }, { "id": "MONDO:0012024", "url": "https://monarchinitiative.org/disease/MONDO:0012024", "resource": "MONDO", "name": "retinitis pigmentosa type 26", "description": "" }, { "id": "MONDO:0012024", "url": "https://monarchinitiative.org/disease/MONDO:0012024", "resource": "MONDO", "name": "retinitis pigmentosa 26; RP26", "description": "" }, { "id": "MONDO:0012024", "url": "https://monarchinitiative.org/disease/MONDO:0012024", "resource": "MONDO", "name": "RP26", "description": "" }, { "id": "DOID:0110368", "url": "http://disease-ontology.org/term/DOID:0110368", "resource": "Disease Ontology", "name": "RP26", "description": "" } ], "recommended_name": { "id": "DOID:0110368", "url": "http://disease-ontology.org/term/DOID:0110368", "resource": "Disease Ontology", "name": "retinitis pigmentosa 26", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0110368#disease-associations", "id": "0110368", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0019200", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "resource": "MONDO", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "resource": "MONDO", "name": "Rod-cone dystrophy", "description": "" }, { "id": "DOID:10584", "url": "http://disease-ontology.org/term/DOID:10584", "resource": "Disease Ontology", "name": "pericentral pigmentary retinopathy", "description": "" } ], "recommended_name": { "id": "DOID:10584", "url": "http://disease-ontology.org/term/DOID:10584", "resource": "Disease Ontology", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/10584#disease-associations", "id": "10584", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 58725.0, "chemical_mass": 58725.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "name": "Cerkl", "locus": { "end_pos": 79330543, "strand": "-", "start_pos": 79456785, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000075256", "id": "ENSMUSG00000075256", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Ceramide kinase-like isoform 1" }, { "url": "https://www.uniprot.org/uniprot/A2AQH1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Ceramide kinase-like" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQH1", "type": "synonym", "resource": "RefSeq", "name": "ceramide kinase-like protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQH1", "type": "synonym", "resource": "RefSeq", "name": "retinitis pigmentosa 26 (autosomal recessive)" } ] }