BioPAX pathway converted from "4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]" in the Reactome database.

1.3.1.70

4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]

4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol + NADPH + H+ => 4,4-dimethylcholesta-8(9),24-dien-3beta-ol + NADP+ [LBR]This event has been computationally inferred from an event that has been demonstrated in another species.<p>The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.<p><a href='/electronic_inference_compara.html' target = 'NEW'>More details and caveats of the event inference in Reactome.</a> For details on PANTHER see also: <a href='http://www.pantherdb.org/about.jsp' target='NEW'>http://www.pantherdb.org/about.jsp</a>

Reactome DB_ID: 194725

nuclear envelopeGO0005635

NADPH [ChEBI:16474]

NADPH

TPNH

Reactomehttp://www.reactome.orgChEBI16474

Reactome DB_ID: 194688

hydron [ChEBI:15378]

hydron

ChEBI15378

Reactome DB_ID: 194681

4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol [ChEBI:17813]

4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol

ChEBI17813

Reactome DB_ID: 194668

NADP(+) [ChEBI:18009]

NADP(+)

ChEBI18009

Reactome DB_ID: 194704

14-demethyllanosterol [ChEBI:18364]

14-demethyllanosterol

ChEBI18364PHYSIOL-LEFT-TO-RIGHT

ACTIVATION

Reactome DB_ID: 10205843

UniProt:Q5RJ97lbr

Danio rerio

NCBI Taxonomy7955UniProtQ5RJ97

Chain Coordinates

EQUAL

615

EQUAL

GO0050613

GO molecular function

Reactome Database ID Release 7510205844Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=10205844Reactome Database ID Release 7510205846Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=10205846ReactomeR-DRE-194674

Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-DRE-194674.14,4-dimethylcholesta-8(9),14,24-trien-3beta-ol and NADPH + H+ react to form 4,4-dimethylcholesta-8(9),24-dien-3beta-ol and NADP+, catalyzed by LBR in the nuclear envelope. LBR protein spans the inner nuclear envelope, has an aminoterminal region with properties of a laminin receptor and a carboxyterminal domain with sequence similarity to sterol delta14-reductases (Holmer et al. 1998). Studies of material from an individual with HEM/Greenberg skeletal dysplasia indicate that LBR catalyzes the sterol delta14-reductase step of cholesterol biosynthesis in vivo. DNA sequencing revealed homozygosity for a mutant LBR allele encoding a truncated protein in the affected individual, and cells from the individual accumulated cholesta-8,14-dien-3beta-ol in culture. Transfection of wild-type LBR into the cultured cells reversed the accumulation of cholesta-8,14-dien-3beta-ol (Waterham et al. 2003). This observation is surprising because a second gene, TM7SF2, encodes an efficient sterol delta14-reductase that is localized to the endoplasmic reticulum whose expression is up-regulated in response to sterol depletion (Bennati et al. 2006). The physiological roles of LBR and TM7SF2 in vivo remain to be determined.

16784888Pubmed2006Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesisBennati, AMCastelli, MDella Fazia, MABeccari, TCaruso, DServillo, GRoberti, RBiochim Biophys Acta 1761:677-859878250Pubmed1998The human lamin B receptor/sterol reductase multigene familyHolmer, LPezhman, AWorman, HJGenomics 54:469-7612618959Pubmed2003Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneWaterham, HRKoster, JMooyer, Pvan Noort, GKelley, RIWilcox, WRHennekam, RCOosterwijk, JCAm J Hum Genet 72:1013-7inferred by electronic annotationIEAGOIEA