uniprot:Q9NPC4 in Computationally mapped citations

14 results for uniprot:Q9NPC4 in Computationally mapped citations

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Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins. Furukawa K., Yokoyama K., Sato T., Wiels J., Hirayama Y., Ohta M., Furukawa K. J. Biol. Chem. 277:11247-11254(2002) GeneRIF 53947 · Mapped (9) expression in megakaryoblastic leukemia cells GeneRIF 53947
The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle. Iwamura K., Furukawa K., Uchikawa M., Sojka B.N., Kojima Y., Wiels J., Shiku H., Urano T., Furukawa K. J. Biol. Chem. 278:44429-44438(2003) GeneRIF 53947 · Mapped (9) results strongly suggested that P1 synthase is identical to Gb3/CD77 synthase GeneRIF 53947
Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype. Hellberg A., Schmidt-Melbye A.C., Reid M.E., Olsson M.L. Transfusion 48:479-487(2008) GeneRIF 53947 · UniProtKB (1) · Mapped (9) Data show that a novel A4GALT missense mutation causes the p phenotype in Amish individuals. GeneRIF 53947
Identification and characterization of the human Gb3/CD77 synthase gene promoter. Okuda T., Nakayama K. Glycobiology 18:1028-1035(2008) GeneRIF 53947 · Mapped (9) the transcriptional regulation of the Gb3S gene by Sp1 might affect the verotoxin sensitivity of endothelial cell and Hemolytic uremic syndrome progression. GeneRIF 53947
The human P(k) histo-blood group antigen provides protection against HIV-1 infection. Lund N., Olsson M.L., Ramkumar S., Sakac D., Yahalom V., Levene C., Hellberg A., Ma X.Z., Binnington B., Jung D. et al. Blood 113:4980-4991(2009) GeneRIF 53947 · Mapped (9) P(k) expression strongly influences susceptibility to HIV-1 infection which implicates P(k) as a new endogenous cell-surface factor that may provide protection against HIV-1 infection. GeneRIF 53947
Globotriaosylceramide (Gb3) content in HeLa cells is correlated to Shiga toxin-induced cytotoxicity and Gb3 synthase expression. Shin I.S., Ishii S., Shin J.S., Sung K.I., Park B.S., Jang H.Y., Kim B.W. BMB Rep 42:310-314(2009) GeneRIF 53947 · Mapped (9) These data show that globotriaosylceramide (Gb3) content which is regulated by the expression of Gb3 synthase determines the sensitivity of HeLa cells toward Shiga toxin. GeneRIF 53947
Human intestinal tissue and cultured colonic cells contain globotriaosylceramide synthase mRNA and the alternate Shiga toxin receptor globotetraosylceramide. Zumbrun S.D., Hanson L., Sinclair J.F., Freedy J., Melton-Celsa A.R., Rodriguez-Canales J., Hanson J.C., O'Brien A.D. Infect. Immun. 78:4488-4499(2010) GeneRIF 53947 · Mapped (9) We established by quantitative real-time PCR that both fresh colonic epithelial sections and HCT-8 cells express Gb3 synthase mRNA and the alternate Shiga toxin receptor globotetraosylceramide. GeneRIF 53947
Transmembrane BAX inhibitor motif containing (TMBIM) family proteins perturbs a trans-Golgi network enzyme, Gb3 synthase, and reduces Gb3 biosynthesis. Yamaji T., Nishikawa K., Hanada K. J. Biol. Chem. 285:35505-35518(2010) GeneRIF 53947 · Mapped (11) Data showed that GRINA-C was associated with Gb3 synthase and may demonstrate a new type of posttranscriptional regulation of glycosyltransferases. GeneRIF 53947
Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease. Shiozuka C., Taguchi A., Matsuda J., Noguchi Y., Kunieda T., Uchio-Yamada K., Yoshioka H., Hamanaka R., Yano S., Yokoyama S. et al. J. Biochem. 149:161-170(2011) GeneRIF 53947 · Mapped (9) Increased globotriaosylceramide levels are detected in a transgenic mouse expressing human alpha1 4-galactosyltransferase in a mouse model for treating Fabry disease. GeneRIF 53947
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. Thuresson B., Westman J.S., Olsson M.L. Blood 117:678-687(2011) GeneRIF 53947 · UniProtKB (2) · Mapped (9) of A4GALT mRNA in cultured human bone marrow cells revealed novel transcripts containing only the noncoding exon 1 and a sequence (here termed exon 2a) from intron 1. GeneRIF 53947
Functional characterisation of a complex mutation in the alpha(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype. Wang Y.C., Chang C.F., Lin H.C., Lin K.S., Lin K.T., Hung C.M., Lin T.M. Transfus Med 21:84-89(2011) GeneRIF 53947 · Mapped (9) 2 Taiwanese individuals with p phenotype were homozygous for a & 428. No expression of P(k) & no enzyme activity were observed in cells transfected with the mutant construct. GeneRIF 53947
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study. Paschke E., Fauler G., Winkler H., Schlagenhauf A., Plecko B., Erwa W., Breunig F., Urban W., Vujkovac B., Sunder-Plassmann G. et al. Am. J. Kidney Dis. 57:673-681(2011) GeneRIF 53947 · Mapped (9) Total urinary protein isoforms of globotriaosylceramide were used to identify Fabry disease in women. GeneRIF 53947
A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. Suchanowska A., Kaczmarek R., Duk M., Lukasiewicz J., Smolarek D., Majorczyk E., Jaskiewicz E., Laskowska A., Wasniowska K., Grodecka M. et al. J. Biol. Chem. 287:38220-38230(2012) GeneRIF 53947 · UniProtKB (1) · Mapped (9) Results suggest that the C631G mutation alters the acceptor specificity of Gb3/CD77 synthase rendering it able to catalyze synthesis of the Gal(alpha1-4)Gal and Gal(alpha1-4)GalNAc moieties. GeneRIF 53947
XRab40 and XCullin5 form a ubiquitin ligase complex essential for the noncanonical Wnt pathway. Lee R.H., Iioka H., Ohashi M., Iemura S., Natsume T., Kinoshita N. EMBO J. 26:3592-3606(2007) MINT MINT-5210812 · Mapped (9) MINT-5224739. 1.4-galactosyltransferase (uniprotkb:Q9NPC4) and Rab40 (uniprotkb:Q5XHF6) colocalize (MI:0403) by fluorescence microscopy (MI:0416). From mint MINT MINT-5210812

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