CMAS (gene)

Protein-coding gene in the species Homo sapiens

CMAS

Identifiers
Aliases| CMAS, CSS, cytidine monophosphate N-acetylneuraminic acid synthetase
External IDs| OMIM: 603316 MGI: 1337124 HomoloGene: 7670 GeneCards: CMAS
| 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

* conjunctival fornix

* blood

* submandibular gland

* left colon

* facial motor nucleus

* superior cervical ganglion

* medial vestibular nucleus

* dorsal tegmental nucleus

* corneal stroma

* dorsomedial hypothalamic 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[edit]

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[edit]

1. ^ a b c 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. ^ a b "Entrez Gene: CMAS cytidine monophosphate N-acetylneuraminic acid synthetase".

## External links[edit]

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

## Further reading[edit]

* 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.

* v
* t
* e

PDB gallery

* 1qwj: The Crystal Structure of Murine CMP-5-N-Acetylneuraminic Acid Synthetase

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