NSDHL

NSDHL
Identifiers
Aliases	NSDHL , H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like
External IDs	OMIM: 300275 MGI: 1099438 HomoloGene: 5951 GeneCards: NSDHL
Gene location (Human) Chr. X chromosome (human) [1] Band Xq28 Start 152,830,967 bp [1] End 152,869,729 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A7.3|X 37.29 cM Start 71,962,163 bp [2] End 72,002,120 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell left adrenal gland ganglionic eminence right lobe of liver islet of Langerhans vagina skin of abdomen stromal cell of endometrium left ventricle oral cavity Top expressed in left lobe of liver superior cervical ganglion medial vestibular nucleus brown adipose tissue dorsal tegmental nucleus anterior horn of spinal cord facial motor nucleus kidney medial ganglionic eminence abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 3-beta-hydroxy-delta5-steroid dehydrogenase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity oxidoreductase activity C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity Cellular component integral component of membrane endoplasmic reticulum membrane lipid droplet membrane endoplasmic reticulum Biological process lipid metabolism labyrinthine layer blood vessel development smoothened signaling pathway steroid metabolic process hair follicle development cholesterol metabolic process cholesterol biosynthetic process steroid biosynthetic process sterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50814 18194 Ensembl ENSG00000147383 ENSMUSG00000031349 UniProt Q15738 Q9R1J0 RefSeq (mRNA) NM_001129765 NM_015922 NM_010941 RefSeq (protein) NP_001123237 NP_057006 NP_035071 Location (UCSC) Chr X: 152.83 – 152.87 Mb Chr X: 71.96 – 72 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. ^{[5] [6]} This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. ^[7]

Clinical significance

Mutations in the NSDHL gene are associated with CHILD syndrome which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. ^{[7] [8]}

References

1. GRCh38: Ensembl release 89: ENSG00000147383 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031349 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ohashi M, Mizushima N, Kabeya Y, Yoshimori T (Sep 2003). "Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets". J Biol Chem. 278 (38): 36819–29. doi: 10.1074/jbc.M301408200 . PMID   12837764.
6. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC   2896744 . PMID   19027726.
7. "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like".
8. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH (Apr 2000). "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am J Med Genet. 90 (4): 339–46. doi:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5. PMID   10710235.

Further reading

• Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID   1602151.
• Angel TA, Faust CJ, Gonzales JC, et al. (1993). "Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28". Mamm. Genome. 4 (3): 171–6. doi:10.1007/BF00352233. PMID   8439729. S2CID   1689347.
• Levin ML, Chatterjee A, Pragliola A, et al. (1996). "A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28". Genome Res. 6 (6): 465–77. doi: 10.1101/gr.6.6.465 . PMID   8828036.
• Heiss NS, Rogner UC, Kioschis P, et al. (1996). "Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)". Genome Res. 6 (6): 478–91. doi: 10.1101/gr.6.6.478 . PMID   8828037.
• Mallon AM, Platzer M, Bate R, et al. (2000). "Comparative Genome Sequence Analysis of the Bpa/Str Region in Mouse and Man". Genome Res. 10 (6): 758–75. doi:10.1101/gr.10.6.758. PMC   310879 . PMID   10854409.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• König A, Happle R, Fink-Puches R, et al. (2002). "A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement". J. Am. Acad. Dermatol. 46 (4): 594–6. doi:10.1067/mjd.2002.113680. PMID   11907515.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Hummel M, Cunningham D, Mullett CJ, et al. (2004). "Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene". Am. J. Med. Genet. A. 122 (3): 246–51. doi:10.1002/ajmg.a.20248. PMID   12966526. S2CID   2737912.
• Caldas H, Herman GE (2004). "NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets". Hum. Mol. Genet. 12 (22): 2981–91. doi: 10.1093/hmg/ddg321 . PMID   14506130.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Cunningham D, Swartzlander D, Liyanarachchi S, et al. (2005). "Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts". J. Lipid Res. 46 (6): 1150–62. doi: 10.1194/jlr.M400462-JLR200 . PMID   15805545.
• Mehra S, Li L, Fan CY, et al. (2005). "A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma". Archives of Dermatology. 141 (10): 1263–7. doi:10.1001/archderm.141.10.1263. PMID   16230564. S2CID   27980953.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Guggenberger C, Ilgen D, Adamski J (2007). "Functional analysis of cholesterol biosynthesis by RNA interference". J. Steroid Biochem. Mol. Biol. 104 (3–5): 105–9. doi:10.1016/j.jsbmb.2007.03.001. PMID   17498944. S2CID   20838858.

External links

• GeneReviews/NCBI/NIH/UW entry on NSDHL related disorders including CHILD syndrome CK syndrome
• Nsdhl+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)