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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 64
  • Cytidine 5-Monophosphate N-Acetylneuraminic Acid Synthetase 3
  • CMP-N-Acetylneuraminic Acid Synthetase 3
  • N-Acylneuraminate Cytidylyltransferase 3
  • CMP-Sialic Acid Synthetase 3
  • CMP-NeuNAc Synthetase 3
  • CSS 3

External Ids for CMAS Gene

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 kidney sarcoma. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar 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

Genomic Location for CMAS Gene

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

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys382 and Lys399

Other Protein References for CMAS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CMAS Gene

Protein Domains for CMAS Gene

UniProtKB/Swiss-Prot:

NEUA_HUMAN
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).:
    • Q8NFW8
Family:
  • Belongs to the CMP-NeuNAc synthase family.:
    • Q8NFW8
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

Phenotypes for CMAS Gene

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

miRNA for CMAS Gene

No data available for Animal Models , Transcription Factor Targeting 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
endoplasmic reticulum 1
plasma membrane 1
vacuole 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:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CMAS: view

Pathways for CMAS Gene

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

Pathways by source for CMAS Gene

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:0009103 lipopolysaccharide biosynthetic process --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with CMAS: view

Compounds for CMAS Gene

(9) HMDB Compounds for CMAS Gene

Compound Synonyms Cas Number PubMed IDs
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
22594-61-2
CMP-N-glycoloylneuraminate
  • CMP-n-glycolylneuraminate
98300-80-2
Cytidine monophosphate
  • 5'-CMP
63-37-6
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-acetylneuraminate
22-12-8
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4

(1) Drugbank Compounds for CMAS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cytidine-5'-Monophosphate-5-N-Acetylneuraminic Acid
target

(3) Novoseek inferred chemical compound relationships for CMAS Gene

Compound -log(P) Hits PubMed IDs
ctp 77.1 1
sialic acid 69.1 3
polysaccharide 60.5 1
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with CMAS: view

Orthologs for CMAS Gene

This gene was present in the common ancestor of animals.

Orthologs for CMAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CMAS 36
  • 99.77 (n)
  • 99.77 (a)
CMAS 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CMAS 36
  • 93.32 (n)
  • 95.85 (a)
CMAS 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CMAS 36
  • 95.31 (n)
  • 97.7 (a)
CMAS 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cmas 36
  • 87.65 (n)
  • 94.21 (a)
Cmas 16
Cmas 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CMAS 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CMAS 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cmas 36
  • 86.34 (n)
  • 94.21 (a)
chicken
(Gallus gallus)
Aves CMAS 36
  • 75.97 (n)
  • 77 (a)
CMAS 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMAS 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7491 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20222 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12074 36
zebrafish
(Danio rerio)
Actinopterygii CMAS (3 of 3) 37
  • 60 (a)
OneToMany
cmasa 36
  • 58.63 (n)
  • 59.9 (a)
cmasa 37
  • 56 (a)
OneToMany
cmasb 37
  • 37 (a)
OneToMany
Dr.7145 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004527 36
  • 50.66 (n)
  • 46.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Csas 36
  • 50.29 (n)
  • 38.01 (a)
Csas 37
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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
rs7606 -- 22,065,633(+) ACATG(A/C)CCTTC utr-variant-3-prime
rs14472 -- 22,065,449(-) AGAAA(A/G)GTAGA utr-variant-3-prime
rs728034 -- 22,060,185(+) TCCAC(A/G)AAATC intron-variant
rs1044655 -- 22,061,326(+) CTTTT(G/T)GTTTG reference, missense
rs1477146 -- 22,059,150(-) AAAAA(A/T)ATATA intron-variant

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

Relevant External Links for CMAS Gene

HapMap Linkage Disequilibrium report
CMAS

Disorders for CMAS Gene

(1) MalaCards Diseases for CMAS Gene

Search for CMAS Gene in MalaCards »

(1) University of Copenhagen DISEASES for CMAS Gene

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

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

Publications for CMAS Gene

  1. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PMID: 7566098) Adams M.D. … White O. (Nature 1995) 2 3
  2. Generation and analysis of 280,000 human expressed sequence tags. (PMID: 8889549) Hillier L.D. … Marra M. (Genome Res. 1996) 2 3
  3. Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells. (PMID: 11602804) Lawrence S.M. … Betenbaugh M.J. (Glycoconj. J. 2001) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CMAS Gene

Sources for CMAS Gene

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