@prefix this: . @prefix sub: . @prefix beldoc: . @prefix rdfs: . @prefix rdf: . @prefix xsd: . @prefix dct: . @prefix dce: . @prefix pav: . @prefix np: . @prefix belv: . @prefix prov: . @prefix go: . @prefix Protein: . @prefix hgnc: . @prefix geneProductOf: . @prefix hasAgent: . @prefix BiochemicalReaction: . @prefix hasInput: . @prefix hasOutput: . @prefix schem: . @prefix chebi: . @prefix species: . @prefix occursIn: . @prefix orcid: . sub:Head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:pubinfo; a np:Nanopublication . } sub:assertion { sub:_1 hasAgent: sub:_2; a go:0003824 . sub:_2 geneProductOf: hgnc:13398; a Protein: . sub:_3 hasOutput: schem:4-methylcholesta-8%289%29%2C24-dien-3-one, schem:H%2B, chebi:48829, chebi:7423; hasInput: schem:4-methyl%2C4-carboxycholesta-8%289%29%2C24-dien-3beta-ol, schem:Nadide; a BiochemicalReaction: . sub:_4 occursIn: species:9606; rdf:object sub:_3; rdf:predicate belv:directlyIncreases; rdf:subject sub:_1; a rdf:Statement . sub:assertion rdfs:label "cat(p(HGNC:NSDHL)) => rxn(reactants(a(SCHEM:\"4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol\"),a(SCHEM:Nadide)),products(a(SCHEM:\"4-methylcholesta-8(9),24-dien-3-one\"),a(CHEBI:NADH),a(SCHEM:\"H+\"),a(CHEBI:\"carbon dioxide\")))" . } sub:provenance { beldoc: dce:description "Approximately 61,000 statements."; dce:rights "Copyright (c) 2011-2012, Selventa. All rights reserved."; dce:title "BEL Framework Large Corpus Document"; pav:authoredBy sub:_7; pav:version "1.4" . sub:_5 dce:identifier "Reactome Pathway"; dce:title "Reactome Pathway"; dce:type "Other" . sub:_6 prov:value "4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol is decarboxylated and oxidized to form 4-methylcholesta-8(9),24-dien-3-one. 4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol and NAD+ react to form 4-methylcholesta-8(9),24-dien-3-one, CO2, and NADH + H+. This reaction occurs in the endoplasmic reticulum, catalyzed by NSDHL (Caldas and Herman 2003). Defects in this enzyme are associated with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects) (Konig et al. 2000), but cholesterol biosynthesis in cells and tissues from affected individuals has not been characterized. Instead, the mechanism and stoichiometry of the reaction are inferred from biochemical studies of partially purified rat enzyme (Rahimtula and Gaylor 1972)."; prov:wasQuotedFrom sub:_5 . sub:_7 rdfs:label "Selventa" . sub:assertion prov:hadPrimarySource sub:_5; prov:wasDerivedFrom beldoc:, sub:_6 . } sub:pubinfo { this: dct:created "2014-07-03T14:29:44.837+02:00"^^xsd:dateTime; pav:createdBy orcid:0000-0001-6818-334X, orcid:0000-0002-1267-0234 . }