[Term] id: PR:000007811 name: galactocerebrosidase def: "A protein that is a translation product of the human GALC gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "GALC" EXACT PRO-short-label [PRO:DNx] synonym: "GALCERase" EXACT [] synonym: "galactosylceramidase" EXACT [] synonym: "galactocerebroside beta-galactosidase" EXACT [] synonym: "galactosylceramide beta-galactosidase" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:P54803 name: galactocerebrosidase (human) def: "A galactocerebrosidase that is encoded in the genome of human." [PRO:DNx, UniProtKB:P54803] comment: Category=organism-gene. synonym: "GALC" RELATED Gene-based [UniProtKB:P54803] synonym: "hGALC" EXACT PRO-short-label [PRO:DNx] synonym: "GALCERase (human)" EXACT [UniProtKB:P54803] synonym: "galactosylceramidase (human)" EXACT [UniProtKB:P54803] synonym: "galactocerebroside beta-galactosidase (human)" EXACT [UniProtKB:P54803] synonym: "galactosylceramide beta-galactosidase (human)" EXACT [UniProtKB:P54803] xref: UniProtKB:P54803 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000007811 ! galactocerebrosidase relationship: has_gene_template HGNC:4115 ! GALC (human) [Term] id: PR:P54803-4 name: galactocerebrosidase isoform h4 (human) def: "A galactocerebrosidase (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:P54803-4." [PRO:DNx, UniProtKB:P54803] comment: Category=organism-sequence. synonym: "hGALC/iso:h4" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P54803-4 is_a: PR:P54803 ! galactocerebrosidase (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:P54803-5 name: galactocerebrosidase isoform h5 (human) def: "A galactocerebrosidase (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:P54803-5." [PRO:DNx, UniProtKB:P54803] comment: Category=organism-sequence. synonym: "hGALC/iso:h5" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P54803-5 is_a: PR:P54803 ! galactocerebrosidase (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:P54803-3 name: galactocerebrosidase isoform h3 (human) def: "A galactocerebrosidase (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:P54803-3." [PRO:DNx, UniProtKB:P54803] comment: Category=organism-sequence. synonym: "hGALC/iso:h3" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P54803-3 is_a: PR:P54803 ! galactocerebrosidase (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:P54803-1 name: galactocerebrosidase isoform h1 (human) def: "A galactocerebrosidase (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:P54803-1." [PRO:DNx, UniProtKB:P54803] comment: Category=organism-sequence. synonym: "hGALC/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P54803-1 is_a: PR:P54803 ! galactocerebrosidase (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000047507 name: galactocerebrosidase, signal peptide removed form (human) def: "A galactocerebrosidase (human) that has had the signal peptide removed. UniProtKB:P54803, 43-685." [PRO:DNx, Reactome:R-HSA-1606575] comment: Category=organism-modification. synonym: "hGALC/SigPep-" EXACT PRO-short-label [PRO:DNx] synonym: "PRO_0000012230" EXACT PRO-proteoform-ftid [PRO:DNx] synonym: "UniProtKB:P54803, 43-685" EXACT PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-1606575 "PR:000047507 located_in GO:0043202" intersection_of: PR:P54803 ! galactocerebrosidase (human) intersection_of: lacks_part SO:0000418 ! signal_peptide relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens