[Term]
id: PR:Q13496-2
name: myotubularin isoform h2 (human)
def: "A myotubularin (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:Q13496-2." [PRO:DNx, UniProtKB:Q13496]
comment: Category=organism-sequence.
synonym: "hMTM1/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q13496-2
is_a: PR:Q13496 ! myotubularin (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000010730
name: myotubularin
def: "A protein that is a translation product of the human MTM1 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "CG2" RELATED Gene-based []
synonym: "MTM1" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000000001 ! protein

[Term]
id: PR:Q13496-1
name: myotubularin isoform 1 (human)
def: "A myotubularin isoform 1 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hMTM1/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q13496-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000040441 ! myotubularin isoform 1

[Term]
id: PR:Q13496
name: myotubularin (human)
def: "A myotubularin that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q13496]
comment: Category=organism-gene.
synonym: "CG2" RELATED Gene-based [UniProtKB:Q13496]
synonym: "MTM1" RELATED Gene-based [UniProtKB:Q13496]
synonym: "hMTM1" EXACT PRO-short-label [PRO:DNx]
synonym: "phosphatidylinositol-3-phosphate phosphatase (human)" BROAD [UniProtKB:Q13496]
synonym: "phosphatidylinositol-3,5-bisphosphate 3-phosphatase (human)" BROAD [UniProtKB:Q13496]
xref: Reactome:R-HSA-1604646 "PR:Q13496 located_in GO:0005829"
xref: UniProtKB:Q13496
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000010730 ! myotubularin
relationship: has_gene_template HGNC:7448 ! MTM1 (human)