[Term]
id: PR:P54252-1
name: ataxin-3 isoform h1 (human)
def: "An ataxin-3 (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:P54252-1." [PRO:DNx, UniProtKB:P54252]
comment: Category=organism-sequence.
synonym: "hATXN3/iso:h1" EXACT PRO-short-label [PRO:DNx]
synonym: "ataxin-3 isoform MJD1a (human)" EXACT [UniProtKB:P54252]
xref: UniProtKB:P54252-1
is_a: PR:P54252 ! ataxin-3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045835
name: ataxin-3 phosphorylated 1 (human)
def: "An ataxin-3 (human) that has been phosphorylated at the position equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:P54252. UniProtKB:P54252, Ser-256, MOD:00046." [PMID:17434145, iPTMnet:P54252]
comment: Category=organism-modification. Evidence=(ECO:0000006, based on PMID:17434145). Status=unreviewed.
synonym: "hATXN3/Phos:1" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P54252, Ser-256, MOD:00046" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P54252-1, Ser-256, MOD:00046" NARROW PRO-proteoform-std [PRO:DNx]
is_a: PR:P54252 ! ataxin-3 (human)
relationship: has_part MOD:00046 ! O-phospho-L-serine
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000004507
name: ataxin-3
def: "A protein that is a translation product of the human ATXN3 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "MJD" RELATED Gene-based []
synonym: "ATX3" RELATED Gene-based []
synonym: "MJD1" RELATED Gene-based []
synonym: "SCA3" RELATED Gene-based []
synonym: "ATXN3" EXACT PRO-short-label [PRO:DNx]
synonym: "machado-Joseph disease protein 1" EXACT []
synonym: "spinocerebellar ataxia type 3 protein" EXACT []
synonym: "machado-Joseph disease protein 1 homolog" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:P54252-2
name: ataxin-3 isoform h2 (human)
def: "An ataxin-3 (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:P54252-2." [PRO:DNx, UniProtKB:P54252]
comment: Category=organism-sequence.
synonym: "hATXN3/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P54252-2
is_a: PR:P54252 ! ataxin-3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P54252-3
name: ataxin-3 isoform h3 (human)
def: "An ataxin-3 (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:P54252-3." [PRO:DNx, UniProtKB:P54252]
comment: Category=organism-sequence.
synonym: "hATXN3/iso:h3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P54252-3
is_a: PR:P54252 ! ataxin-3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P54252
name: ataxin-3 (human)
def: "An ataxin-3 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P54252]
comment: Category=organism-gene.
synonym: "MJD" RELATED Gene-based [UniProtKB:P54252]
synonym: "ATX3" RELATED Gene-based [UniProtKB:P54252]
synonym: "MJD1" RELATED Gene-based [UniProtKB:P54252]
synonym: "SCA3" RELATED Gene-based [UniProtKB:P54252]
synonym: "ATXN3" RELATED Gene-based [UniProtKB:P54252]
synonym: "hATXN3" EXACT PRO-short-label [PRO:DNx]
synonym: "Machado-Joseph disease protein 1 (human)" EXACT [UniProtKB:P54252]
synonym: "spinocerebellar ataxia type 3 protein (human)" EXACT [UniProtKB:P54252]
xref: Reactome:R-HSA-5625607 "PR:P54252 located_in GO:0005829"
xref: Reactome:R-HSA-6783285 "PR:P54252 located_in GO:0005654"
xref: UniProtKB:P54252
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000004507 ! ataxin-3
relationship: has_gene_template HGNC:7106 ! ATXN3 (human)

[Term]
id: PR:P54252-4
name: ataxin-3 isoform h4 (human)
def: "An ataxin-3 (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:P54252-4." [PRO:DNx, UniProtKB:P54252]
comment: Category=organism-sequence.
synonym: "hATXN3/iso:h4" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P54252-4
is_a: PR:P54252 ! ataxin-3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P54252-5
name: ataxin-3 isoform h5 (human)
def: "An ataxin-3 (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:P54252-5." [PRO:DNx, UniProtKB:P54252]
comment: Category=organism-sequence.
synonym: "hATXN3/iso:h5" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P54252-5
is_a: PR:P54252 ! ataxin-3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens