[Term] id: PR:Q9BQS7-3 name: hephaestin isoform h3 (human) def: "A hephaestin (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:Q9BQS7-3." [PRO:DNx, UniProtKB:Q9BQS7] comment: Category=organism-sequence. synonym: "hHEPH/iso:h3" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9BQS7-3 is_a: PR:Q9BQS7 ! hephaestin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9BQS7-2 name: hephaestin isoform h2 (human) def: "A hephaestin (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:Q9BQS7-2." [PRO:DNx, UniProtKB:Q9BQS7] comment: Category=organism-sequence. synonym: "hHEPH/iso:h2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9BQS7-2 is_a: PR:Q9BQS7 ! hephaestin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9BQS7-1 name: hephaestin isoform h1 (human) def: "A hephaestin (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:Q9BQS7-1." [PRO:DNx, UniProtKB:Q9BQS7] comment: Category=organism-sequence. synonym: "hHEPH/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9BQS7-1 is_a: PR:Q9BQS7 ! hephaestin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000008511 name: hephaestin def: "A protein that is a translation product of the human HEPH gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "HEPH" EXACT PRO-short-label [PRO:DNx] synonym: "KIAA0698" RELATED Gene-based [] synonym: "UNQ2562/PRO6242" RELATED Gene-based [] is_a: PR:000000001 ! protein [Term] id: PR:Q9BQS7-4 name: hephaestin isoform h4 (human) def: "A hephaestin (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:Q9BQS7-4." [PRO:DNx, UniProtKB:Q9BQS7] comment: Category=organism-sequence. synonym: "hHEPH/iso:h4" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9BQS7-4 is_a: PR:Q9BQS7 ! hephaestin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000047692 name: hephaestin, signal peptide removed form (human) def: "A hephaestin (human) that has had the signal peptide removed. UniProtKB:Q9BQS7, 24-1158." [PRO:DNx, Reactome:R-HSA-904820] comment: Category=organism-modification. synonym: "hHEPH/SigPep-" EXACT PRO-short-label [PRO:DNx] synonym: "PRO_0000002915" EXACT PRO-proteoform-ftid [PRO:DNx] synonym: "UniProtKB:Q9BQS7, 24-1158" EXACT PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-904820 "PR:000047692 located_in GO:0005886" intersection_of: PR:Q9BQS7 ! hephaestin (human) intersection_of: lacks_part SO:0000418 ! signal_peptide relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9BQS7 name: hephaestin (human) def: "A hephaestin that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9BQS7] comment: Category=organism-gene. synonym: "HEPH" RELATED Gene-based [UniProtKB:Q9BQS7] synonym: "hHEPH" EXACT PRO-short-label [PRO:DNx] synonym: "KIAA0698" RELATED Gene-based [UniProtKB:Q9BQS7] synonym: "UNQ2562/PRO6242" RELATED Gene-based [UniProtKB:Q9BQS7] xref: UniProtKB:Q9BQS7 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000008511 ! hephaestin relationship: has_gene_template HGNC:4866 ! HEPH (human)