This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provide... See more...

Aliases for CMAS Gene

Aliases for CMAS Gene

  • Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase 2 3 5
  • N-Acylneuraminate Cytidylyltransferase 2 3 4
  • CMP-N-Acetylneuraminic Acid Synthase 3 4
  • CMP-Neu5Ac Synthetase 2 3
  • CMP-NeuNAc Synthase 3 4
  • EC 2.7.7.43 4 51
  • Cytidine 5'-Monophosphate N-Acetylneuraminic Acid Synthetase 3
  • CMP-N-Acetylneuraminic Acid Synthetase 3
  • CMP-Sialic Acid Synthetase 3
  • CMP-NeuNAc Synthetase 3
  • CMAS 5
  • 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

  • This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for CMAS Gene

CMAS (Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase) is a Protein Coding gene. Diseases associated with CMAS include Coffin-Siris Syndrome 1 and Coffin-Siris Syndrome 4. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CMAS Gene

Genomics for CMAS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CMAS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J022045 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.4 1379 3.9 PRDM10 ZNF629 SIX5 IKZF1 ZNF692 POLR2A JUND LARP7 ZNF143 ZIC2 CMAS RECQL ST8SIA1 LDHB RF00017-1108
GH12J022014 Enhancer 0.4 Ensembl 11.4 -31.5 -31473 0.6 GABPA RXRA RARA GABPB1 CMAS LDHB ENSG00000256615 THEM4P1 ABCC9
GH12J022130 Enhancer 0.4 ENCODE 11.4 +84.6 84625 1.1 ATF3 FOS JUND JUN CMAS piR-31534-125 SULT6B2P lnc-ABCC9-2 lnc-ST8SIA1-2 ST8SIA1
GH12J022041 Enhancer 0.8 FANTOM5 ENCODE 0.7 -3.1 -3069 3.8 JUND FOXA1 CEBPA SOX13 EGR1 CEBPB YBX1 FOS FOSL2 DPF2 ST8SIA1 CMAS THEM4P1 ABCC9
GH12J022034 Enhancer 0.6 Ensembl ENCODE 0.4 -11.0 -10974 2 PRDM1 ESR1 CREB1 MYNN NFIC CMAS THEM4P1 ABCC9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CMAS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CMAS

Top Transcription factor binding sites by QIAGEN in the CMAS gene promoter:
  • c-Ets-1
  • C/EBPalpha
  • FOXL1
  • Hlf
  • Lmo2
  • Pax-5
  • RP58
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for CMAS Gene

Genomic Locations for CMAS Gene
chr12:22,046,174-22,065,674
(GRCh38/hg38)
Size:
19,501 bases
Orientation:
Plus strand
chr12:22,199,108-22,218,608
(GRCh37/hg19)
Size:
19,501 bases
Orientation:
Plus strand

Genomic View for CMAS Gene

Genes around CMAS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMAS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for CMAS Gene

Q8NFW8:
  • RPRRQDWDGEL
  • SVDIDVDIDWP
  • AQKAVGYICK
  • LAGVPLIGWVLRAA
  • IQATSPCLHP
  • LARGGSKGIPLKNIK
  • EIQKGVRE
  • PRGRPSRGRPPKLQR
  • WVSTDHDEIENVAKQFGAQVHRRSSE
  • SKDSSTSLDAI

Post-translational modifications for CMAS Gene

  • Ubiquitination at Lys6, Lys382, and Lys399
  • Modification sites at PhosphoSitePlus

Other Protein References for CMAS Gene

Domains & Families for CMAS Gene

Gene Families for CMAS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CMAS Gene

Suggested Antigen Peptide Sequences for CMAS Gene

GenScript: Design optimal peptide antigens:
  • CMP-N-acetylneuraminic acid synthase (NEUA_HUMAN)

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

Function for CMAS Gene

Molecular function for CMAS Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylneuraminate + CTP = a CMP-N-acyl-beta-neuraminate + diphosphate; Xref=Rhea:RHEA:11344, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563, ChEBI:CHEBI:60073, ChEBI:CHEBI:68671; EC=2.7.7.43; Evidence={ECO:0000269|PubMed:11602804};.

Enzyme Numbers (IUBMB) for CMAS Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
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

CRISPR Products

miRNA for CMAS Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMAS

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMAS gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CMAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,HDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane HDA 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.

Gene Ontology (GO) - Biological Process for CMAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006054 N-acetylneuraminate metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Cytidine-5'-Monophosphate-5-N-Acetylneuraminic Acid Experimental Pharma Target 0
Cytidine monophosphate Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0
Aceneuramic acid Investigational Pharma 0

(8) 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 N-acetylneuraminic acid
  • CMP-beta-Neu5ac
  • CMP-N-Acetylneuraminate
  • CMP-Sialic acid
  • CYTIDINE-5'-monophosphATE-5-N-acetylneuraminIC ACID
  • CMP-b-Neu5ac
22-12-8
N-glycolylneuraminic acid
  • GcNeu
  • N-Glycolyl-beta-neuraminic acid
  • Neu5GC
  • NeuGc
  • NGNA
1113-83-3
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with CMAS: view

Transcripts for CMAS Gene

mRNA/cDNA for CMAS Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMAS

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

Expression for CMAS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CMAS Gene



Protein tissue co-expression partners for CMAS Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CMAS

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.

Evidence on tissue expression from TISSUES for CMAS Gene

  • Liver(4.5)
  • Stomach(4.4)
  • Nervous system(4)
  • Intestine(3.2)
  • Blood(3.1)
  • Skin(2.7)
  • Kidney(2.4)
  • Heart(2.4)
  • Muscle(2.3)
  • Bone marrow(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with CMAS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia CMAS 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CMAS 30 31
  • 95.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CMAS 30 31
  • 93.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cmas 30 17 31
  • 87.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cmas 30
  • 86.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia CMAS 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CMAS 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CMAS 30 31
  • 75.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CMAS 31
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7491 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.20222 30
Zebrafish
(Danio rerio)
Actinopterygii CMAS (3 of 3) 31
  • 60 (a)
OneToMany
cmasa 30 31
  • 58.63 (n)
OneToMany
cmasb 31
  • 37 (a)
OneToMany
Dr.7145 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12074 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004527 30
  • 50.66 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Csas 30 31
  • 50.29 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToOne
Species where no ortholog for CMAS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CMAS: view image

Paralogs for CMAS Gene

No data available for Paralogs for CMAS Gene

Variants for CMAS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CMAS Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
778585 Benign: not provided 22,046,381(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
779520 Benign: not provided 22,062,440(+) T/TATC INTRON_VARIANT
790461 Benign: not provided 22,065,215(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CMAS Gene

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

Variant ID Type Subtype PubMed ID
esv2759883 CNV gain+loss 17122850
nsv1134208 CNV deletion 24896259
nsv438196 CNV loss 16468122

Variation tolerance for CMAS Gene

Residual Variation Intolerance Score: 30.7% 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)

Additional Variant Information for CMAS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMAS

SNP Genotyping and Copy Number Assay Products

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

Disorders for CMAS Gene

MalaCards: The human disease database

(7) MalaCards diseases for CMAS Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search CMAS in MalaCards View complete list of genes associated with diseases
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells. (PMID: 11602804) Lawrence SM … Betenbaugh MJ (Glycoconjugate journal 2001) 3 4
  4. Mammalian cytidine 5'-monophosphate N-acetylneuraminic acid synthetase: a nuclear protein with evolutionarily conserved structural motifs. (PMID: 9689047) Münster AK … Gerardy-Schahn R (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3
  5. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3

Products for CMAS Gene

  • Signalway Proteins for CMAS

Sources for CMAS Gene