[Term] id: PR:000004508 name: ataxin-7 def: "A protein that is a translation product of the human ATXN7 gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "SCA7" RELATED Gene-based [] synonym: "ATXN7" EXACT PRO-short-label [PRO:DNx] synonym: "spinocerebellar ataxia type 7 protein" EXACT [] synonym: "spinocerebellar ataxia type 7 protein homolog" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:O15265-2 name: ataxin-7 isoform b (human) def: "An ataxin-7 (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:O15265-2." [PRO:DNx, UniProtKB:O15265] comment: Category=organism-sequence. synonym: "hATXN7/iso:b" EXACT PRO-short-label [PRO:DNx] synonym: "ataxin-7 isoform SCA7b (human)" EXACT [UniProtKB:O15265] synonym: "ataxin-7 isoform Ataxin-7b (human)" EXACT [UniProtKB:O15265] xref: UniProtKB:O15265-2 is_a: PR:O15265 ! ataxin-7 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:O15265-3 name: ataxin-7 isoform h3 (human) def: "An ataxin-7 (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:O15265-3." [PRO:DNx, UniProtKB:O15265] comment: Category=organism-sequence. synonym: "hATXN7/iso:h3" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:O15265-3 is_a: PR:O15265 ! ataxin-7 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:O15265-1 name: ataxin-7 isoform 1 (human) def: "An ataxin-7 isoform 1 that is encoded in the genome of human." [PRO:PD] comment: Category=organism-sequence. synonym: "ataxin-7a" RELATED Gene-based [UniProtKB:O15265] synonym: "hATXN7/iso:1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:O15265-1 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000028659 ! ataxin-7 isoform 1 [Term] id: PR:O15265 name: ataxin-7 (human) def: "An ataxin-7 that is encoded in the genome of human." [PRO:DNx, UniProtKB:O15265] comment: Category=organism-gene. synonym: "SCA7" RELATED Gene-based [UniProtKB:O15265] synonym: "ATXN7" RELATED Gene-based [UniProtKB:O15265] synonym: "hATXN7" EXACT PRO-short-label [PRO:DNx] synonym: "spinocerebellar ataxia type 7 protein (human)" EXACT [UniProtKB:O15265] xref: Reactome:R-HSA-201591 "PR:O15265 located_in GO:0005829" xref: Reactome:R-HSA-8869458 "PR:O15265 located_in GO:0005654" xref: UniProtKB:O15265 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000004508 ! ataxin-7 relationship: has_gene_template HGNC:10560 ! ATXN7 (human) [Term] id: PR:000028659 name: ataxin-7 isoform 1 def: "An ataxin-7 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:O15265-1 or a 1:1 ortholog thereof." [PMID:19955365, PRO:PD] comment: Category=sequence. synonym: "ATXN7/iso:1" EXACT PRO-short-label [PRO:DNx] is_a: PR:000004508 ! ataxin-7 [Term] id: PR:000028662 name: ataxin-7 isoform 1 acetylated 1 (human) def: "An ataxin-7 isoform 1 acetylated 1 in human. UniProtKB:O15265-1, Lys-257, MOD:00064." [PMID:19955365, PRO:PD] comment: Category=organism-modification. Acetylase=("CREBBP"; PR:Q92793). synonym: "hATXN7/iso:1/Ac:1" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:O15265-1, Lys-257, MOD:00064" EXACT PRO-proteoform-std [PRO:DNx] intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000028661 ! ataxin-7 isoform 1 acetylated 1 relationship: has_part MOD:00064 ! N6-acetyl-L-lysine [Term] id: PR:Q8R4I1 name: ataxin-7 (mouse) def: "An ataxin-7 that is encoded in the genome of mouse." [OMA:Q8R4I1, PRO:DNx] comment: Category=organism-gene. synonym: "Sca7" RELATED Gene-based [UniProtKB:Q8R4I1] synonym: "Atxn7" RELATED Gene-based [UniProtKB:Q8R4I1] synonym: "mATXN7" EXACT PRO-short-label [PRO:DNx] synonym: "spinocerebellar ataxia type 7 protein homolog (mouse)" EXACT [UniProtKB:Q8R4I1] xref: UniProtKB:Q8R4I1 intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus intersection_of: PR:000004508 ! ataxin-7 relationship: has_gene_template MGI:2179277 ! Atxn7 (mouse) [Term] id: PR:000028661 name: ataxin-7 isoform 1 acetylated 1 def: "An ataxin-7 isoform 1 that has been acetylated in the first Lys residue of the conserved motif KVEKxHPKMD. Example: UniProtKB:O15265-1, Lys-257, MOD:00064." [PMID:19955365, PRO:PD] comment: Category=modification. synonym: "ATXN7/iso:1/Ac:1" EXACT PRO-short-label [PRO:DNx] is_a: PR:000028659 ! ataxin-7 isoform 1 relationship: has_part MOD:00064 ! N6-acetyl-L-lysine