{ "uniprot_canonical_ac": "A2AQH1-1", "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": [], "synonyms": { "protein": { "refseq": [ "ceramide kinase-like protein", "retinitis pigmentosa 26 (autosomal recessive)" ], "uniprotkb": [ "Ceramide kinase-like isoform 1", "Ceramide kinase-like" ] }, "gene": { "refseq": [ "Cerkl", "Gm1958", "Rp26" ], "uniprotkb": [ "Cerkl", "Gm1958", "Rp26" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "recommendedname": { "full": "Ceramide kinase-like isoform 1; Ceramide kinase-like." }, "publication": [ { "title": "CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24735978", "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", "pmid": "24735978" }, { "title": "Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23142158", "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", "pmid": "23142158" }, { "title": "Specific sphingolipid content decrease in Cerkl knockdown mouse retinas.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23501591", "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", "pmid": "23501591" }, { "title": "Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22678504", "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", "pmid": "22678504" }, { "title": "Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22549043", "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", "pmid": "22549043" }, { "title": "High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21508105", "journal": "Investigative ophthalmology & visual science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AQH1/publications", "id": "A2AQH1", "database": "UniProtKB" } ], "authors": "Garanto A, Riera M, Pomares E, Permanyer J, de Castro-Miro M, Sava F, Abril JF, Marfany G, Gonzalez-Duarte R", "date": "2011", "pmid": "21508105" }, { "title": "Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21151604", "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", "pmid": "21151604" }, { "title": "Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18555012", "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", "pmid": "18555012" }, { "title": "Diversification of stem cell molecular repertoire by alternative splicing.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16183747", "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", "pmid": "16183747" }, { "title": "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).", "url": "https://www.ncbi.nlm.nih.gov/pubmed/14681825", "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", "pmid": "14681825" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1#A2AQH0-1", "isoform_ac": "A2AQH0-1", "locus": { "end_pos": 79332578, "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, "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/www_bget?mmu:228094", "resource": "KEGG Pathway", "id": "mmu:228094", "name": "" } ], "function": [ { "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": "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": "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": "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" } ], "organism": "Rattus norvegicus", "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" } ], "organism": "Homo sapiens", "tax_id": 9606 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "ac": "NP_001041641.1", "name": "ceramide kinase-like protein; retinitis pigmentosa 26 (autosomal recessive).", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046625", "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", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "NAD+ kinase activity", "id": "GO:0003951" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "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", "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", "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", "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", "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", "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:0005730", "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", "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", "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", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 10, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "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:0046834", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "lipid phosphorylation", "id": "GO:0046834" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "id": "A2AQH1", "database": "UniProtKB" } ], "name": "negative regulation of apoptotic process", "id": "GO:0043066" } ], "total": 3, "name": "Biological Process" } ] }, "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 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041641.1", "id": "NP_001041641.1", "database": "RefSeq" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:228094", "id": "mmu:228094", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000075256", "id": "ENSMUSG00000075256", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/SVMKECK/", "id": "SVMKECK", "database": "OMA" }, { "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": "http://pfam.xfam.org/family/PF00781", "id": "PF00781", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2AQH1", "id": "PR_A2AQH1", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/228094", "id": "228094", "database": "GeneID" }, { "url": "http://www.informatics.jax.org/marker/MGI:3037816", "id": "3037816", "database": "MGI" } ], "expression_disease": [], "uniprot_ac": "A2AQH1", "disease": [], "mass": { "monoisotopic_mass": 58725.0, "chemical_mass": 58725.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AQH1", "name": "Cerkl; Gm1958; Rp26.", "locus": { "end_pos": 79330543, "start_pos": 79456785, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000075256", "id": "ENSMUSG00000075256", "database": "Ensembl Gene" } ] } } ] }