CMAS (gene)

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)
End	142,721,440 bp
RNA expression pattern
	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
	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
	55907
	12764
	n/a
	ENSMUSG00000030282
	Q8NFW8
	Q99KK2
	NM_018686
	NM_009908
	NP_061156
	NP_034038
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

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]

Related Research Articles

Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone. The term "sialic acid" was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this group is N-acetylneuraminic acid found in animals and some prokaryotes.

A salvage pathway is a pathway in which a biological product is produced from intermediates in the degradative pathway of its own or a similar substance. The term often refers to nucleotide salvage in particular, in which nucleotides are synthesized from intermediates in their degradative pathway.

Exo-α-sialidase is a glycoside hydrolase that cleaves the glycosidic linkages of neuraminic acids:

N-Acetylmannosamine is a hexosamine monosaccharide. It is a neutral, stable naturally occurring compound. N-Acetylmannosamine is also known as N-Acetyl-D-mannosamine monohydrate,, N-Acetyl-D-mannosamine which can be abbreviated to ManNAc or, less commonly, NAM). ManNAc is the first committed biological precursor of N-acetylneuraminic acid. Sialic acids are the negatively charged, terminal monosaccharides of carbohydrate chains that are attached to glycoproteins and glycolipids (glycans).

In enzymology, a CMP-N-acetylneuraminate monooxygenase (EC 1.14.18.2) is an enzyme that catalyzes the chemical reaction

The enzyme CMP-N-acylneuraminate phosphodiesterase (EC 3.1.4.40) catalyzes the reaction

In enzymology, a lactosylceramide alpha-2,3-sialyltransferase is an enzyme that catalyzes the chemical reaction

<span class="mw-page-title-main">N-acylneuraminate cytidylyltransferase</span>

In enzymology, a N-acylneuraminate cytidylyltransferase is an enzyme that catalyzes the chemical reaction

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.

Uridine-cytidine kinase 2 (UCK2) is an enzyme that in humans is encoded by the UCK2 gene.

Sialic acid-binding Ig-like lectin 12, or Siglec-XII, is a protein that in humans, is encoded by the SIGLEC12 gene.

UMP-CMP kinase is an enzyme that in humans is encoded by the CMPK1 gene.

CMP-sialic acid transporter is a protein that in humans is encoded by the SLC35A1 gene.

Cytidine monophospho-N-acetylneuraminic acid hydroxylase (Cmah) is an enzyme that is encoded by the CMAH gene. In most mammals, the enzyme hydroxylates N-acetylneuraminic acid (Neu5Ac), producing N-glycolylneuraminic acid (Neu5Gc). Neu5Ac and Neu5Gc are mammalian glycans that compose the glycocalyx, especially in sialoglycoproteins, which are part of the sialic acid family. The CMAH equivalent in humans is a pseudogene (CMAHP); there is no detectable Neu5Gc in normal human tissue. This deficiency has a number of proposed effects on humans, including increased brain growth and improved self-recognition by the human immune system. Incorporation of Neu5Gc from red meat and dairy into human tissues has been linked to chronic disease, including type-2 diabetes and chronic inflammation.

Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene.

Sialic acid synthase is an enzyme that in humans is encoded by the NANS gene.

Long-chain-fatty-acid—CoA ligase ACSBG2 is an enzyme that in humans is encoded by the ACSBG2 gene.

CMAS may stand for:

N-Glycolylneuraminic acid (Neu5Gc) is a sialic acid molecule found in most non-human mammals. Humans cannot synthesize Neu5Gc because the human gene CMAH is irreversibly mutated, though it is found in other apes. It is absent in human tissues because of inactivation of gene encoding CMP-N-acetylneuraminic acid hydroxylase. The gene CMAH encodes for CMP-N-acetylneuraminic acid hydroxylase, which is the enzyme responsible for CMP-Neu5Gc from CMP-N-acetylneuraminic (CMP-Neu5Ac) acid. This loss of CMAH is estimated to have occurred 2-3 million years ago, just before the emergence of the genus Homo.

hCONDELs refer to regions of deletions within the human genome containing sequences that are highly conserved among closely related relatives. Almost all of these deletions fall within regions that perform non-coding functions. These represent a new class of regulatory sequences and may have played an important role in the development of specific traits and behavior that distinguish closely related organisms from each other.

References

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030282 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "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 .

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. 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.

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[refGRCm38Ensembl-1] 1 2 3 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.

[pmid8889549-4] 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.

[pmid7566098-5] 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.

[entrez-6] 1 2 "Entrez Gene: CMAS cytidine monophosphate N-acetylneuraminic acid synthetase".

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CMAS (gene)

Contents

Function

Related Research Articles

References

External links

Further reading