[Term] id: PR:000060161 name: guanine nucleotide exchange factor C9orf72 def: "A protein that is a translation product of the human C9orf72 gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "DENND9" RELATED Gene-based [] synonym: "C9orf72" EXACT PRO-short-label [PRO:DNx] synonym: "DENNL72" RELATED Gene-based [] synonym: "guanine nucleotide exchange C9orf72" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q96LT7 name: guanine nucleotide exchange factor C9orf72 (human) def: "A guanine nucleotide exchange factor C9orf72 that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q96LT7] comment: Category=organism-gene. synonym: "DENND9" RELATED Gene-based [UniProtKB:Q96LT7] synonym: "C9orf72" RELATED Gene-based [UniProtKB:Q96LT7] synonym: "DENNL72" RELATED Gene-based [UniProtKB:Q96LT7] synonym: "hC9orf72" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q96LT7 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000060161 ! guanine nucleotide exchange factor C9orf72 relationship: has_gene_template HGNC:28337 ! C9orf72 (human) [Term] id: PR:Q96LT7-2 name: guanine nucleotide exchange factor C9orf72 isoform h2 (human) def: "A guanine nucleotide exchange factor C9orf72 (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:Q96LT7-2." [PRO:DNx, UniProtKB:Q96LT7] comment: Category=organism-sequence. synonym: "hC9orf72/iso:h2" EXACT PRO-short-label [PRO:DNx] synonym: "guanine nucleotide exchange factor C9orf72 isoform C9-S (human)" EXACT [UniProtKB:Q96LT7] synonym: "guanine nucleotide exchange factor C9orf72 isoform C9(SF) (human)" EXACT [UniProtKB:Q96LT7] xref: UniProtKB:Q96LT7-2 is_a: PR:Q96LT7 ! guanine nucleotide exchange factor C9orf72 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q96LT7-1 name: guanine nucleotide exchange factor C9orf72 isoform h1 (human) def: "A guanine nucleotide exchange factor C9orf72 (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:Q96LT7-1." [PRO:DNx, UniProtKB:Q96LT7] comment: Category=organism-sequence. synonym: "hC9orf72/iso:h1" EXACT PRO-short-label [PRO:DNx] synonym: "guanine nucleotide exchange C9orf72 isoform C9-L (human)" EXACT [UniProtKB:Q96LT7] xref: UniProtKB:Q96LT7-1 is_a: PR:Q96LT7 ! guanine nucleotide exchange factor C9orf72 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens