[Term] id: PR:O76090-3 name: bestrophin-1 isoform h3 (human) def: "A bestrophin-1 (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:O76090-3." [PRO:DNx, UniProtKB:O76090] comment: Category=organism-sequence. synonym: "hBEST1/iso:h3" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:O76090-3 is_a: PR:O76090 ! bestrophin-1 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:O76090-1 name: bestrophin-1 isoform h1 (human) def: "A bestrophin-1 (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:O76090-1." [PRO:DNx, UniProtKB:O76090] comment: Category=organism-sequence. synonym: "hBEST1/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:O76090-1 is_a: PR:O76090 ! bestrophin-1 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:O76090-4 name: bestrophin-1 isoform h4 (human) def: "A bestrophin-1 (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:O76090-4." [PRO:DNx, UniProtKB:O76090] comment: Category=organism-sequence. synonym: "hBEST1/iso:h4" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:O76090-4 is_a: PR:O76090 ! bestrophin-1 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000045615 name: bestrophin-1 phosphorylated 1 (human) def: "A bestrophin-1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-358 of the amino acid sequence represented by UniProtKB:O76090-1. Example: UniProtKB:O76090-1, Ser-358, MOD:00046." [PMID:19635817, iPTMnet:O76090] comment: Category=organism-modification. Evidence=(ECO:0000006, based on PMID:19635817). Status=unreviewed. synonym: "hBEST1/Phos:1" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:O76090-1, Ser-358, MOD:00046" NARROW PRO-proteoform-std [PRO:DNx] is_a: PR:O76090 ! bestrophin-1 (human) relationship: has_part MOD:00046 ! O-phospho-L-serine relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000004721 name: bestrophin-1 def: "A protein that is a translation product of the human BEST1 gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "Bmd1" RELATED Gene-based [] synonym: "VMD2" RELATED Gene-based [] synonym: "BEST1" EXACT PRO-short-label [PRO:DNx] synonym: "TU15B" EXACT [] synonym: "vitelliform macular dystrophy protein 2" EXACT [] synonym: "vitelliform macular dystrophy protein 2 homolog" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:O76090 name: bestrophin-1 (human) def: "A bestrophin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:O76090] comment: Category=organism-gene. synonym: "VMD2" RELATED Gene-based [UniProtKB:O76090] synonym: "BEST1" RELATED Gene-based [UniProtKB:O76090] synonym: "hBEST1" EXACT PRO-short-label [PRO:DNx] synonym: "TU15B (human)" EXACT [UniProtKB:O76090] synonym: "vitelliform macular dystrophy protein 2 (human)" EXACT [UniProtKB:O76090] xref: Reactome:R-HSA-2744365 "PR:O76090 located_in GO:0005886" xref: DTO:01100030 xref: UniProtKB:O76090 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000004721 ! bestrophin-1 relationship: has_gene_template HGNC:12703 ! BEST1 (human)