NSDHL

Protein-coding gene in the species Homo sapiens
NSDHL
Identifiers
AliasesNSDHL, H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like
External IDsOMIM: 300275; MGI: 1099438; HomoloGene: 5951; GeneCards: NSDHL; OMA:NSDHL - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for NSDHL
Genomic location for NSDHL
BandXq28Start152,830,967 bp[1]
End152,869,729 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for NSDHL
Genomic location for NSDHL
BandX A7.3|X 37.29 cMStart71,962,163 bp[2]
End72,002,120 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of esophagus

  • endothelial cell

  • gingival epithelium

  • right adrenal cortex

  • left adrenal gland

  • left adrenal cortex

  • mucosa of transverse colon

  • ganglionic eminence

  • gonad

  • right lobe of liver
Top expressed in
  • left lobe of liver

  • efferent ductule

  • superior cervical ganglion

  • medial vestibular nucleus

  • transitional epithelium of urinary bladder

  • brown adipose tissue

  • dorsal tegmental nucleus

  • anterior horn of spinal cord

  • facial motor nucleus

  • endothelial cell of lymphatic vessel
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
SpeciesHumanMouse
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 MbChr X: 71.96 – 72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000147383 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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)
  • v
  • t
  • e
1.1.1: NAD/NADP acceptor
1.1.2: cytochrome acceptor
  • D-lactate dehydrogenase (cytochrome)
  • D-lactate dehydrogenase (cytochrome c-553)
  • Mannitol dehydrogenase (cytochrome)
1.1.3: oxygen acceptor1.1.4: disulfide as acceptor
1.1.5: quinone/similar acceptor
1.1.99: other acceptors


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