Reactome | SRD5A3 reduces pPNOL to DCHOL

SRD5A3 reduces pPNOL to DCHOL

Stable Identifier

R-HSA-4419979

Type

Reaction [transition]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, cytosol

ReviewStatus

5/5

Locations in the PathwayBrowser

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Metabolism of proteins (Homo sapiens)

- Post-translational protein modification (Homo sapiens)
  - Asparagine N-linked glycosylation (Homo sapiens)
    - Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein (Homo sapiens)
      - Synthesis of substrates in N-glycan biosythesis (Homo sapiens)
        
        Synthesis of Dolichyl-phosphate (Homo sapiens)
        
        SRD5A3 reduces pPNOL to DCHOL (Homo sapiens)

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Polyprenol reductase (SRD5A3), resident on the endoplasmic reticulum membrane, mediates the reduction of the alpha-isoprene unit of polyprenol (pPNOL) to form dolichol (DCHOL) in a NADPH-dependent manner (Cantagrel et al. 2010). Defects in SRD5A3 cause congenital disorder of glycosylation 1q (SRD5A3-CDG, CDG1Q; MIM:612379), a neurodevelopmental disorder characterised by under-glycosylated serum glycoproteins resulting in nervous system development, psychomotor retardation, hypotonia, coagulation disorders and immunodeficiency (Cantagrel et al. 2010, Kasapkara et al. 2012). Defects in SRD5A3 can also cause Kahrizi syndrome (KHRZ; MIM:612713), a neurodevelopmental disorder characterised by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (Kahrizi et al. 2011).

Literature References

PubMed ID	Title	Journal	Year
20700148	Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 Kuss, AW, Chen, W, Ullmann, R, Kahrizi, K, Tzschach, A, Garshasbi, M, Abedini, SS, Najmabadi, H, Kariminejad, R, Ropers, HH, Hu, CH, Ghadami, S	Eur. J. Hum. Genet.	2011
20637498	SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder Swistun, D, Ali, BR, De Brouwer, AP, Morava, E, Freeze, HH, Ng, BG, Dobyns, WB, Blümel, P, Babovic-Vuksanovic, D, Houliston, S, Adamowicz, M, Hombauer, H, Lefeber, DJ, Swiezewska, E, Sykut-Cegielska, J, Guan, Z, Bielas, SL, Cantagrel, V, van Bokhoven, H, Gleeson, JG, Raetz, CR, Wevers, RA, Al-Gazali, L, Lehle, L, Silhavy, JL	Cell	2010
22240719	SRD5A3-CDG: a patient with a novel mutation Kasapkara, CS, Hasanoğlu, A, Tümer, L, Ezgü, FS, Matthijs, G, Race, V, Jaeken, J	Eur. J. Paediatr. Neurol.	2012