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Aliases for CMAS Gene

Aliases for CMAS Gene

  • Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase 2 3
  • CMP-N-Acetylneuraminic Acid Synthase 3 4
  • CMP-Neu5Ac Synthetase 2 3
  • CMP-NeuNAc Synthase 3 4
  • EC 2.7.7.43 4 63
  • Cytidine 5-Monophosphate N-Acetylneuraminic Acid Synthetase 3
  • CMP-N-Acetylneuraminic Acid Synthetase 3
  • CMP-Sialic Acid Synthetase 3
  • CMP-NeuNAc Synthetase 3
  • CSS 3

External Ids for CMAS Gene

Previous GeneCards Identifiers for CMAS Gene

  • GC12P022551
  • GC12P022200
  • GC12P022099
  • GC12P022090
  • GC12P021972
  • GC12P022199

Summaries for CMAS Gene

Entrez Gene Summary for CMAS Gene

  • Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development and N-glycosylation is a common post-translational modification during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase. [provided by RefSeq, Jul 2012]

GeneCards Summary for CMAS Gene

CMAS (Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase) is a Protein Coding gene. Diseases associated with CMAS include flying phobia and coffin-siris syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.

UniProtKB/Swiss-Prot for CMAS Gene

  • Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN)

Gene Wiki entry for CMAS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMAS Gene

Genomics for CMAS Gene

Regulatory Elements for CMAS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CMAS Gene

Chromosome:
12
Start:
22,046,174 bp from pter
End:
22,065,674 bp from pter
Size:
19,501 bases
Orientation:
Plus strand

Genomic View for CMAS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CMAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMAS Gene

Proteins for CMAS Gene

  • Protein details for CMAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFW8-NEUA_HUMAN
    Recommended name:
    N-acylneuraminate cytidylyltransferase
    Protein Accession:
    Q8NFW8
    Secondary Accessions:
    • Q96AX5
    • Q9NQZ0

    Protein attributes for CMAS Gene

    Size:
    434 amino acids
    Molecular mass:
    48379 Da
    Quaternary structure:
    • Homotetramer; the active enzyme is formed by a dimer of dimers

    Alternative splice isoforms for CMAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CMAS Gene

Proteomics data for CMAS Gene at MOPED

Post-translational modifications for CMAS Gene

  • Ubiquitination at Lys 6, Lys 382, and Lys 399
  • Modification sites at PhosphoSitePlus

Other Protein References for CMAS Gene

Antibody Products

Domains & Families for CMAS Gene

Protein Domains for CMAS Gene

Suggested Antigen Peptide Sequences for CMAS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFW8

UniProtKB/Swiss-Prot:

NEUA_HUMAN :
  • The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity).
  • Belongs to the CMP-NeuNAc synthase family.
Domain:
  • The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity).
Family:
  • Belongs to the CMP-NeuNAc synthase family.
genes like me logo Genes that share domains with CMAS: view

No data available for Gene Families for CMAS Gene

Function for CMAS Gene

Molecular function for CMAS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + N-acylneuraminate = diphosphate + CMP-N-acylneuraminate.
UniProtKB/Swiss-Prot Function:
Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN)

Enzyme Numbers (IUBMB) for CMAS Gene

Gene Ontology (GO) - Molecular Function for CMAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008781 N-acylneuraminate cytidylyltransferase activity TAS --
genes like me logo Genes that share ontologies with CMAS: view
genes like me logo Genes that share phenotypes with CMAS: view

Animal Model Products

miRNA for CMAS Gene

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CMAS Gene

Localization for CMAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMAS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CMAS Gene COMPARTMENTS Subcellular localization image for CMAS gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CMAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CMAS: view

Pathways & Interactions for CMAS Gene

genes like me logo Genes that share pathways with CMAS: view

UniProtKB/Swiss-Prot Q8NFW8-NEUA_HUMAN

  • Pathway: Amino-sugar metabolism; N-acetylneuraminate metabolism

Interacting Proteins for CMAS Gene

Gene Ontology (GO) - Biological Process for CMAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006054 N-acetylneuraminate metabolic process IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with CMAS: view

No data available for SIGNOR curated interactions for CMAS Gene

Drugs & Compounds for CMAS Gene

(3) Drugs for CMAS Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine-5'-Monophosphate-5-N-Acetylneuraminic Acid Experimental Pharma Target 0
Cytidine triphosphate Experimental Pharma 0
Diphosphate Experimental Pharma 0

(10) Additional Compounds for CMAS Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
  • 2-Keto-3-deoxy-D-glycero-D-galacto-nononate
  • 2-Keto-3-deoxy-D-glycero-D-galacto-nononic acid
  • 2-Oxo-3-deoxy-D-glycero-galactononulosonate
  • 2-Oxo-3-deoxy-D-glycero-galactononulosonic acid
22594-61-2
CMP-N-glycoloylneuraminate
  • (2R,4S,5R,6R)-2-[({[(2R,3S,4R,5R)-5-(4-amino-2-oxo-1,2-dihydropyrimidin-1-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}phosphinato)oxy]-4-hydroxy-5-(2-hydroxyacetamido)-6-[(1R,2R)-1,2,3-trihydroxypropyl]oxane-2-carboxylate
  • CMP-N-Glycolylneuraminate
  • CMP-N-Glycolylneuraminic acid
  • CMP-Neu5Gc
  • CMP-Neungc
98300-80-2
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-Acetylneuraminate
  • CMP-N-Acylneuraminate
  • CMP-NeuNAc
  • Cytidine 5'-monophosphate N-acetylneuraminic acid
  • Cytidine Monophosphate N-Acetylneuraminate
22-12-8
N-Acetylneuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-delta-glycero-beta-delta-galacto-2-Nonulopyranosonate
131-48-6
genes like me logo Genes that share compounds with CMAS: view

Transcripts for CMAS Gene

Unigene Clusters for CMAS Gene

Cytidine monophosphate N-acetylneuraminic acid synthetase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CMAS Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1: -
SP2: - -
SP3:

Relevant External Links for CMAS Gene

GeneLoc Exon Structure for
CMAS
ECgene alternative splicing isoforms for
CMAS

Expression for CMAS Gene

mRNA expression in normal human tissues for CMAS Gene

Protein differential expression in normal tissues from HIPED for CMAS Gene

This gene is overexpressed in Testis (10.2), Peripheral blood mononuclear cells (10.0), and Fetal testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CMAS Gene



SOURCE GeneReport for Unigene cluster for CMAS Gene Hs.311346

mRNA Expression by UniProt/SwissProt for CMAS Gene

Q8NFW8-NEUA_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen.
genes like me logo Genes that share expression patterns with CMAS: view

Protein tissue co-expression partners for CMAS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CMAS Gene

Orthologs for CMAS Gene

This gene was present in the common ancestor of animals.

Orthologs for CMAS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CMAS 35
  • 93.32 (n)
  • 95.85 (a)
CMAS 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CMAS 35
  • 95.31 (n)
  • 97.7 (a)
CMAS 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cmas 35
  • 87.65 (n)
  • 94.21 (a)
Cmas 16
Cmas 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CMAS 35
  • 99.77 (n)
  • 99.77 (a)
CMAS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cmas 35
  • 86.34 (n)
  • 94.21 (a)
oppossum
(Monodelphis domestica)
Mammalia CMAS 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CMAS 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CMAS 35
  • 75.97 (n)
  • 77 (a)
CMAS 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMAS 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20222 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7491 35
zebrafish
(Danio rerio)
Actinopterygii cmasa 35
  • 58.63 (n)
  • 59.9 (a)
Dr.7145 35
CMAS (3 of 3) 36
  • 60 (a)
OneToMany
cmasa 36
  • 56 (a)
OneToMany
cmasb 36
  • 37 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12074 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004527 35
  • 50.66 (n)
  • 46.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Csas 35
  • 50.29 (n)
  • 38.01 (a)
Csas 36
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for CMAS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CMAS Gene

ENSEMBL:
Gene Tree for CMAS (if available)
TreeFam:
Gene Tree for CMAS (if available)

Paralogs for CMAS Gene

No data available for Paralogs for CMAS Gene

Variants for CMAS Gene

Sequence variations from dbSNP and Humsavar for CMAS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs728034 -- 22,060,185(+) TCCAC(A/G)AAATC intron-variant
rs1044655 -- 22,061,326(+) CTTTT(G/T)GTTTG reference, missense, intron-variant
rs1477146 -- 22,059,150(-) AAAAA(A/T)ATATA intron-variant
rs2058849 -- 22,058,997(-) ATTAC(A/G)TAGTT intron-variant
rs2955502 -- 22,044,570(+) CTGCA(C/T)GAAGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CMAS Gene

Variant ID Type Subtype PubMed ID
essv14178 CNV CNV 17122850
dgv482e1 CNV Complex 17122850
nsv438196 CNV Loss 16468122

Variation tolerance for CMAS Gene

Residual Variation Intolerance Score: 30.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CMAS Gene

HapMap Linkage Disequilibrium report
CMAS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMAS Gene

Disorders for CMAS Gene

MalaCards: The human disease database

(6) MalaCards diseases for CMAS Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
flying phobia
coffin-siris syndrome
  • short stature-onychodysplasia.
tolosa-hunt syndrome
  • tolosa hunt syndrome
chronic follicular conjunctivitis
orbital plasma cell granuloma
  • orbital myositis
- elite association
Search CMAS in MalaCards View complete list of genes associated with diseases

Relevant External Links for CMAS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CMAS
genes like me logo Genes that share disorders with CMAS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CMAS Gene

Publications for CMAS Gene

  1. Expression of human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter in tobacco suspension-cultured cell. (PMID: 16343442) Misaki R. … Seki T. (Biochem. Biophys. Res. Commun. 2006) 23 67
  2. Nontypeable Haemophilus influenzae strain 2019 produces a biofilm containing N-acetylneuraminic acid that may mimic sialylated O-linked glycans. (PMID: 15213170) Greiner L.L. … Apicella M.A. (Infect. Immun. 2004) 23 67
  3. Catalytic mechanism of CMP:2-keto-3-deoxy-manno-octonic acid synthetase as derived from complexes with reaction educt and product. (PMID: 11802716) Jelakovic S. … Schulz G.E. (Biochemistry 2002) 23 67
  4. Regulation of capsular polysialic acid biosynthesis by temperature in Pasteurella haemolytica A2. (PMID: 10094482) Barrallo S. … Ferrero M.A. (FEBS Lett. 1999) 23 67
  5. Biochemical conditions for the production of polysialic acid by Pasteurella haemolytica A2. (PMID: 10052589) Puente-Polledo L. … Ferrero M.A. (Glycoconj. J. 1998) 23 67

Products for CMAS Gene

Sources for CMAS Gene

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