CMAS (gene)

From Wikipedia, the free encyclopedia


Cytidine monophosphate N-acetylneuraminic acid synthetase
PDB rendering based on 1qwj.
Available structures: 1qwj
Identifiers
Symbol(s) CMAS;
External IDs OMIM: 603316 MGI1337124 HomoloGene7670
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 55907 12764
Ensembl ENSG00000111726 ENSMUSG00000030282
Uniprot Q8NFW8 Q99KK2
Refseq NM_018686 (mRNA)
NP_061156 (protein)
NM_009908 (mRNA)
NP_034038 (protein)
Location Chr 12: 22.09 - 22.11 Mb Chr 6: 142.71 - 142.73 Mb
Pubmed search [1] [2]

Cytidine monophosphate N-acetylneuraminic acid synthetase, also known as CMAS, is a human gene.[1]

The enzyme encoded by this gene catalyzes the activation of Neu5Ac to Cytidine 5-prime-monophosphate N-acetylneuraminic acid (CMP-Neu5Ac), which provides the substrate required for the addition of sialic acid. Sialic acids of cell surface glycoproteins and glycolipids play a pivotal role in the structure and function of animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development, and changes with stages of differentiation. Studies of a similar murine protein suggest that this protein localizes to the nucleus.[1]

[edit] References

[edit] Further reading

  • Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.". Nature 377 (6547 Suppl): 3-174. PMID 7566098. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548. 
  • Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807-28. PMID 8889549. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149. 
  • Münster AK, Eckhardt M, Potvin B, et al. (1998). "Mammalian cytidine 5'-monophosphate N-acetylneuraminic acid synthetase: a nuclear protein with evolutionarily conserved structural motifs.". Proc. Natl. Acad. Sci. U.S.A. 95 (16): 9140-5. PMID 9689047. 
  • Angata T, Varki NM, Varki A (2001). "A second uniquely human mutation affecting sialic acid biology.". J. Biol. Chem. 276 (43): 40282-7. doi:10.1074/jbc.M105926200. PMID 11546777. 
  • Lawrence SM, Huddleston KA, Tomiya N, et al. (2002). "Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells.". Glycoconj. J. 18 (3): 205-13. PMID 11602804. 
  • Munster AK, Weinhold B, Gotza B, et al. (2002). "Nuclear localization signal of murine CMP-Neu5Ac synthetase includes residues required for both nuclear targeting and enzymatic activity.". J. Biol. Chem. 277 (22): 19688-96. doi:10.1074/jbc.M201093200. PMID 11893746. 
  • Kutsenko AS, Gizatullin RZ, Al-Amin AN, et al. (2002). "NotI flanking sequences: a tool for gene discovery and verification of the human genome.". Nucleic Acids Res. 30 (14): 3163-70. PMID 12136098. 
  • 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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • 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. PMID 15489334.