[Term] id: PR:000046462 name: Bardet-Biedl syndrome 1 protein, initiator methionine removed form (human) def: "A Bardet-Biedl syndrome 1 protein (human) that has had the initiator methionine removed. UniProtKB:Q8NFJ9, 2-593." [PRO:DNx, Reactome:R-HSA-5617640] comment: Category=organism-modification. synonym: "PRO_0000064841" EXACT PRO-proteoform-ftid [PRO:DNx] synonym: "hBBS1/InitMet-" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:Q8NFJ9, 2-593" EXACT PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-5617640 "PR:000046462 located_in GO:0005829" intersection_of: lacks_part PR:000021937 ! initiator methionine intersection_of: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q8NFJ9-3 name: Bardet-Biedl syndrome 1 protein isoform h2 (human) def: "A Bardet-Biedl syndrome 1 protein (human) 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:Q8NFJ9-3." [PRO:DNx, UniProtKB:Q8NFJ9] comment: Category=organism-sequence. synonym: "hBBS1/iso:h2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q8NFJ9-3 is_a: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q8NFJ9 name: Bardet-Biedl syndrome 1 protein (human) def: "A Bardet-Biedl syndrome 1 protein that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q8NFJ9] comment: Category=organism-gene. synonym: "BBS1" RELATED Gene-based [UniProtKB:Q8NFJ9] synonym: "hBBS1" EXACT PRO-short-label [PRO:DNx] synonym: "BBS2L2" RELATED Gene-based [UniProtKB:Q8NFJ9] synonym: "BBS2-like protein 2 (human)" EXACT [UniProtKB:Q8NFJ9] xref: UniProtKB:Q8NFJ9 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000004663 ! Bardet-Biedl syndrome 1 protein relationship: has_gene_template HGNC:966 ! BBS1 (human) [Term] id: PR:000019119 name: Bardet-Biedl syndrome 1 protein, initiator methionine removed form def: "A Bardet-Biedl syndrome 1 protein that has had the initiator methionine removed." [PRO:DNx] comment: Category=modification. synonym: "BBS1/InitMet-" EXACT PRO-short-label [PRO:DNx] intersection_of: PR:000004663 ! Bardet-Biedl syndrome 1 protein intersection_of: lacks_part PR:000021937 ! initiator methionine [Term] id: PR:Q3V3N7 name: Bardet-Biedl syndrome 1 protein homolog (mouse) def: "A Bardet-Biedl syndrome 1 protein that is encoded in the genome of mouse." [OMA:Q3V3N7, PRO:DNx] comment: Category=organism-gene. synonym: "Bbs1" RELATED Gene-based [UniProtKB:Q3V3N7] synonym: "mBBS1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q3V3N7 intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus intersection_of: PR:000004663 ! Bardet-Biedl syndrome 1 protein relationship: has_gene_template MGI:1277215 ! Bbs1 (mouse) [Term] id: PR:Q9NEZ7 name: Bardet-Biedl syndrome 1 protein homolog (worm) def: "A Bardet-Biedl syndrome 1 protein that is encoded in the genome of worm." [OMA:Q9NEZ7, PRO:DNx] comment: Category=organism-gene. synonym: "bbs-1" RELATED Gene-based [UniProtKB:Q9NEZ7] synonym: "Y105E8A.5" RELATED Gene-based [UniProtKB:Q9NEZ7] synonym: "BBS1 (worm)" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9NEZ7 intersection_of: only_in_taxon NCBITaxon:6239 ! Caenorhabditis elegans intersection_of: PR:000004663 ! Bardet-Biedl syndrome 1 protein relationship: has_gene_template WormBase:WBGene00000241 ! bbs-1 (worm) [Term] id: PR:Q8NFJ9-1 name: Bardet-Biedl syndrome 1 protein isoform h1 (human) def: "A Bardet-Biedl syndrome 1 protein (human) 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:Q8NFJ9-1." [PRO:DNx, UniProtKB:Q8NFJ9] comment: Category=organism-sequence. synonym: "hBBS1/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q8NFJ9-1 is_a: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q8NFJ9-2 name: DPP3-BBS1 readthrough protein (human) def: "A Bardet-Biedl syndrome 1 protein (human) that is a translation product of some readthrough mRNA between the human DPP3 and BBS1 genes, giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NFJ9-2." [PRO:DAN, UniProtKB:Q8NFJ9] comment: Category=organism-sequence. synonym: "hBBS1/iso:DPP3-BBS1" EXACT PRO-short-label [PRO:DNx] synonym: "Bardet-Biedl syndrome 1 protein isoform DPP3-BBS1 (human)" EXACT [UniProtKB:Q8NFJ9] xref: UniProtKB:Q8NFJ9-2 is_a: PR:Q8NFJ9 ! Bardet-Biedl syndrome 1 protein (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000004663 name: Bardet-Biedl syndrome 1 protein def: "A protein that is a translation product of the human BBS1 gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "BBS1" EXACT PRO-short-label [PRO:DNx] synonym: "BBS2L2" RELATED Gene-based [] synonym: "BBS2-like protein 2" EXACT [] is_a: PR:000000001 ! protein