CMAS (gene)

CMAS
Identifiers
Aliases	CMAS , CSS, cytidine monophosphate N-acetylneuraminic acid synthetase
External IDs	OMIM: 603316; MGI: 1337124; HomoloGene: 7670; GeneCards: CMAS; OMA:CMAS - orthologs
Gene location (Mouse) Chr. Chromosome 6 (mouse) [1] Band 6 G2|6 74.66 cM Start 142,702,412 bp [1] End 142,721,440 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in rectum prefrontal cortex left adrenal gland dorsolateral prefrontal cortex Brodmann area 9 amygdala islet of Langerhans monocyte nucleus accumbens duodenum Top expressed in fetal liver hematopoietic progenitor cell conjunctival fornix blood submandibular gland left colon facial motor nucleus tibiofemoral joint superior cervical ganglion medial vestibular nucleus dorsal tegmental nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotidyltransferase activity N-acylneuraminate cytidylyltransferase activity Cellular component membrane nucleus nucleoplasm Biological process N-acetylneuraminate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55907 12764 Ensembl n/a ENSMUSG00000030282 UniProt Q8NFW8 Q99KK2 RefSeq (mRNA) NM_018686 NM_009908 RefSeq (protein) NP_061156 NP_034038 Location (UCSC) n/a Chr 6: 142.7 – 142.72 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

N-acylneuraminate cytidylyltransferase is an enzyme that in humans is encoded by the CMAS gene. ^{[4] [5] [6]}

Function

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. ^[6]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000030282 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M (September 1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807–28. doi: 10.1101/gr.6.9.807 . PMID   8889549.
5. Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (September 1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID   7566098.
6. "Entrez Gene: CMAS cytidine monophosphate N-acetylneuraminic acid synthetase".

External links

• Human CMAS genome location and CMAS gene details page in the UCSC Genome Browser .

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Münster AK, Eckhardt M, Potvin B, Mühlenhoff M, Stanley P, Gerardy-Schahn R (August 1998). "Mammalian cytidine 5'-monophosphate N-acetylneuraminic acid synthetase: a nuclear protein with evolutionarily conserved structural motifs". Proceedings of the National Academy of Sciences of the United States of America. 95 (16): 9140–5. Bibcode:1998PNAS...95.9140M. doi: 10.1073/pnas.95.16.9140 . PMC   21305 . PMID   9689047.
• Angata T, Varki NM, Varki A (October 2001). "A second uniquely human mutation affecting sialic acid biology". The Journal of Biological Chemistry. 276 (43): 40282–7. doi: 10.1074/jbc.M105926200 . PMID   11546777.
• Lawrence SM, Huddleston KA, Tomiya N, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ (March 2001). "Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells". Glycoconjugate Journal. 18 (3): 205–13. doi:10.1023/A:1012452705349. PMID   11602804. S2CID   21504026.
• Munster AK, Weinhold B, Gotza B, Muhlenhoff M, Frosch M, Gerardy-Schahn R (May 2002). "Nuclear localization signal of murine CMP-Neu5Ac synthetase includes residues required for both nuclear targeting and enzymatic activity". The Journal of Biological Chemistry. 277 (22): 19688–96. doi: 10.1074/jbc.M201093200 . PMID   11893746.
• Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG, Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W, Wahlestedt C, Zabarovsky ER (July 2002). "NotI flanking sequences: a tool for gene discovery and verification of the human genome". Nucleic Acids Research. 30 (14): 3163–70. doi:10.1093/nar/gkf428. PMC   135748 . PMID   12136098.