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Gene Review

PIGQ  -  phosphatidylinositol glycan anchor...

Homo sapiens

Synonyms: GPI1, N-acetylglucosamyl transferase component GPI1, PIG-Q, Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q, Phosphatidylinositol-glycan biosynthesis class Q protein, ...
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Disease relevance of PIGQ


Psychiatry related information on PIGQ

  • In contrast, expression of GPI-linked proteins is normal in lymphatic cell lines from individuals with the alpha thalassaemia/mental retardation syndrome, which is characterised by large deletions from chromosome 16p removing one of the two GPI1 alleles along with the haemoglobin alpha locus [2].

High impact information on PIGQ

  • PIG-P, a 134-amino acid protein having two hydrophobic domains, associates with PIG-A and GPI1 [3].
  • Here, we report cloning of a human homolog of GPI1 (hGPI1) and demonstrate that four mammalian gene products form a protein complex in the endoplasmic reticulum membrane [4].
  • Therefore, GPI1 stabilizes the enzyme by tying up PIG-C with a complex of PIG-A and PIG-H [1].
  • Two genes, gpi 1 and 2 encode for GPI, but only gpi1 is expressed during encystment [5].
  • The allele frequencies of the AAT-2, GPD-2, and GPI-1 loci, were used in genetic comparisons of samples from the two stocks [6].

Biological context of PIGQ

  • The locus (Gpi-1) controlling the more anodally migrated isozyme (GPI-1) was located on linkage group 1 (sex chromosome) of this species; the gene arrangement being Gpi-1--(18.2 map units)--To-2 (tetrazolium oxidase-2)--(27.3 map units)--M/m(sex)--(about 40 map units, as estimated by previous studies)--s (straw-colored larva) [7].

Other interactions of PIGQ

  • A lack of GPI1 also caused partial decreases of PIG-C and PIG-H [1].


  1. GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T. J. Biol. Chem. (1999) [Pubmed]
  2. The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. Tiede, A., Daniels, R.J., Higgs, D.R., Mehrein, Y., Schmidt, R.E., Schubert, J. Gene (2001) [Pubmed]
  3. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. Watanabe, R., Murakami, Y., Marmor, M.D., Inoue, N., Maeda, Y., Hino, J., Kangawa, K., Julius, M., Kinoshita, T. EMBO J. (2000) [Pubmed]
  4. The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. Watanabe, R., Inoue, N., Westfall, B., Taron, C.H., Orlean, P., Takeda, J., Kinoshita, T. EMBO J. (1998) [Pubmed]
  5. Regulation of carbohydrate metabolism during Giardia encystment. Jarroll, E.L., Macechko, P.T., Steimle, P.A., Bulik, D., Karr, C.D., van Keulen, H., Paget, T.A., Gerwig, G., Kamerling, J., Vliegenthart, J., Erlandsen, S. J. Eukaryot. Microbiol. (2001) [Pubmed]
  6. Genetic variation in the hooded seal, Cystophora cristata, based on enzyme polymorphism and multi-locus DNA fingerprinting. Sundt, R.C., Dahle, G., Naevdal, G. Hereditas (1994) [Pubmed]
  7. Inheritance of glucosephosphate isomerase in Aedes togoi. Tadano, T. J. Am. Mosq. Control Assoc. (1986) [Pubmed]
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