[Term] id: PR:Q16637 name: survival motor neuron protein (human) def: "A survival motor neuron protein that is encoded in the genome of human." [PRO:DAN, UniProtKB:Q16637] comment: Category=organism-gene. Note: The SMN1 and SMN2 genes encode identical proteins. synonym: "SMN" RELATED Gene-based [UniProtKB:Q16637] synonym: "SMN1" RELATED Gene-based [UniProtKB:Q16637] synonym: "SMN2" RELATED Gene-based [UniProtKB:Q16637] synonym: "SMNC" RELATED Gene-based [UniProtKB:Q16637] synonym: "SMNT" RELATED Gene-based [UniProtKB:Q16637] synonym: "hSMN" EXACT PRO-short-label [PRO:DAN] synonym: "gemin-1 (human)" EXACT [UniProtKB:Q16637] synonym: "component of gems 1 (human)" EXACT [UniProtKB:Q16637] xref: UniProtKB:Q16637 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000026269 ! survival motor neuron protein relationship: has_gene_template HGNC:11117 ! SMN1 (human) relationship: has_gene_template HGNC:11118 ! SMN2 (human) [Term] id: PR:000049296 name: survival motor neuron protein, initiator methionine removed form (human) def: "A survival motor neuron protein (human) that has had the initiator methionine removed. UniProtKB:Q16637, 2-294." [PRO:DNx, Reactome:R-HSA-191839, Reactome:R-HSA-191892] comment: Category=organism-modification. synonym: "hSMN/InitMet-" EXACT PRO-short-label [PRO:DNx] synonym: "PRO_0000218903" EXACT PRO-proteoform-ftid [PRO:DNx] synonym: "UniProtKB:Q16637, 2-294" EXACT PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-191839 "PR:000049296 located_in GO:0005829" xref: Reactome:R-HSA-191892 "PR:000049296 located_in GO:0005654" intersection_of: lacks_part PR:000021937 ! initiator methionine intersection_of: PR:Q16637 ! survival motor neuron protein (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q16637-4 name: survival motor neuron protein isoform hSMN-delta57 (human) def: "A survival motor neuron protein (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:Q16637-4." [PRO:DNx, UniProtKB:Q16637] comment: Category=organism-sequence. synonym: "hSMN/iso:hSMN-delta57" EXACT PRO-short-label [PRO:DNx] synonym: "survival motor neuron protein isoform Iso57-SMN (human)" EXACT [UniProtKB:Q16637] xref: UniProtKB:Q16637-4 is_a: PR:Q16637 ! survival motor neuron protein (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000026269 name: survival motor neuron protein def: "A protein that is a translation product of the human SMN1 or SMN2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof." [PRO:DAN] comment: Category=gene. Note: The human SMN1 and SMN2 genes encode identical proteins. synonym: "SMN" EXACT PRO-short-label [PRO:DAN] synonym: "SMN1" RELATED Gene-based [] synonym: "SMN2" RELATED Gene-based [] synonym: "SMNC" RELATED Gene-based [] synonym: "SMNT" RELATED Gene-based [] synonym: "Gemin-1" EXACT [] synonym: "Component of gems 1" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q16637-1 name: survival motor neuron protein isoform 1 (human) def: "A survival motor neuron protein isoform 1 that is encoded in the genome of human." [PRO:CNx] comment: Category=organism-sequence. synonym: "full-SMN" RELATED [] synonym: "hSMN/iso:1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q16637-1 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000026270 ! survival motor neuron protein isoform 1 [Term] id: PR:Q16637-2 name: survival motor neuron protein isoform 2 (human) def: "A survival motor neuron protein isoform 2 that is encoded in the genome of human." [PRO:CNx] comment: Category=organism-sequence. synonym: "hSMN/iso:2" EXACT PRO-short-label [PRO:DNx] synonym: "SMN-delta5 (human)" EXACT [] xref: UniProtKB:Q16637-2 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000026273 ! survival motor neuron protein isoform 2 [Term] id: PR:Q16637-3 name: survival motor neuron protein isoform 3 (human) def: "A survival motor neuron protein isoform 3 that is encoded in the genome of human." [PMID:15494309] comment: Category=organism-sequence. synonym: "hSMN/iso:3" EXACT PRO-short-label [PRO:DNx] synonym: "SMN-delta7 (human)" EXACT [] xref: UniProtKB:Q16637-3 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000026276 ! survival motor neuron protein isoform 3