[Term] id: PR:000005349 name: centrosomal protein of 290 kDa def: "A protein that is a translation product of the human CEP290 gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "CT87" EXACT [] synonym: "BBS14" RELATED Gene-based [] synonym: "NPHP6" RELATED Gene-based [] synonym: "CEP290" EXACT PRO-short-label [PRO:DNx] synonym: "cep290" EXACT [] synonym: "KIAA0373" RELATED Gene-based [] synonym: "nephrocystin-6" EXACT [] synonym: "tumor antigen se2-2" EXACT [] synonym: "cancer/testis antigen 87" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q6A078 name: centrosomal protein of 290 kDa (mouse) def: "A centrosomal protein of 290 kDa that is encoded in the genome of mouse." [OMA:Q6A078, PRO:DNx] comment: Category=organism-gene. synonym: "Nphp6" RELATED Gene-based [UniProtKB:Q6A078] synonym: "Cep290" RELATED Gene-based [UniProtKB:Q6A078] synonym: "mCEP290" EXACT PRO-short-label [PRO:DNx] synonym: "Kiaa0373" RELATED Gene-based [UniProtKB:Q6A078] synonym: "nephrocystin-6 (mouse)" EXACT [UniProtKB:Q6A078] synonym: "Bardet-Biedl syndrome 14 protein homolog (mouse)" EXACT [UniProtKB:Q6A078] xref: UniProtKB:Q6A078 intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus intersection_of: PR:000005349 ! centrosomal protein of 290 kDa relationship: has_gene_template MGI:2384917 ! Cep290 (mouse) [Term] id: PR:P85001 name: centrosomal protein of 290 kDa (zebrafish) def: "A centrosomal protein of 290 kDa that is encoded in the genome of zebrafish." [OMA:P85001, PANTHER:PTHR18879:SF3, PRO:DNx] comment: Category=organism-gene. synonym: "cep290" RELATED Gene-based [UniProtKB:P85001] synonym: "z-CEP290" EXACT PRO-short-label [PRO:DNx] synonym: "im:7145703" RELATED Gene-based [UniProtKB:P85001] synonym: "Cep290 (zebrafish)" EXACT [UniProtKB:P85001] xref: UniProtKB:P85001 intersection_of: only_in_taxon NCBITaxon:7955 ! Danio rerio intersection_of: PR:000005349 ! centrosomal protein of 290 kDa relationship: has_gene_template ZFIN:ZDB-GENE-041111-243 ! cep290 (zebrafish) [Term] id: PR:Q6A078-2 name: centrosomal protein of 290 kDa isoform m2 (mouse) def: "A centrosomal protein of 290 kDa (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6A078-2." [PRO:DNx, UniProtKB:Q6A078] comment: Category=organism-sequence. synonym: "mCEP290/iso:m2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q6A078-2 is_a: PR:Q6A078 ! centrosomal protein of 290 kDa (mouse) relationship: only_in_taxon NCBITaxon:10090 ! Mus musculus [Term] id: PR:Q6A078-1 name: centrosomal protein of 290 kDa isoform m1 (mouse) def: "A centrosomal protein of 290 kDa (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6A078-1." [PRO:DNx, UniProtKB:Q6A078] comment: Category=organism-sequence. synonym: "mCEP290/iso:m1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q6A078-1 is_a: PR:Q6A078 ! centrosomal protein of 290 kDa (mouse) relationship: only_in_taxon NCBITaxon:10090 ! Mus musculus [Term] id: PR:O15078 name: centrosomal protein of 290 kDa (human) def: "A centrosomal protein of 290 kDa that is encoded in the genome of human." [PRO:DNx, UniProtKB:O15078] comment: Category=organism-gene. synonym: "BBS14" RELATED Gene-based [UniProtKB:O15078] synonym: "NPHP6" RELATED Gene-based [UniProtKB:O15078] synonym: "CEP290" RELATED Gene-based [UniProtKB:O15078] synonym: "hCEP290" EXACT PRO-short-label [PRO:DNx] synonym: "KIAA0373" RELATED Gene-based [UniProtKB:O15078] synonym: "CT87 (human)" EXACT [UniProtKB:O15078] synonym: "Cep290 (human)" EXACT [UniProtKB:O15078] synonym: "nephrocystin-6 (human)" EXACT [UniProtKB:O15078] synonym: "tumor antigen se2-2 (human)" EXACT [UniProtKB:O15078] synonym: "cancer/testis antigen 87 (human)" EXACT [UniProtKB:O15078] synonym: "Bardet-Biedl syndrome 14 protein (human)" EXACT [UniProtKB:O15078] xref: Reactome:R-HSA-380275 "PR:O15078 located_in GO:0005829" xref: Reactome:R-HSA-6806291 "PR:O15078 located_in GO:0005576" xref: Reactome:R-HSA-6799524 "PR:O15078 located_in GO:0035580" xref: UniProtKB:O15078 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000005349 ! centrosomal protein of 290 kDa relationship: has_gene_template HGNC:29021 ! CEP290 (human)