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Aliases for CMAS Gene

Aliases for CMAS Gene

  • Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase 2 3 5
  • 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
  • N-Acylneuraminate Cytidylyltransferase 2
  • 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

  • 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 and Flying Phobia. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Transport to the Golgi and subsequent modification. 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

Enhancers for CMAS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CMAS on UCSC Golden Path with GeneCards custom track

Promoters for CMAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CMAS on UCSC Golden Path with GeneCards custom track

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

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

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

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

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

Animal Model Products

miRNA for CMAS Gene

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CMAS Gene COMPARTMENTS Subcellular localization image for CMAS gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CMAS Gene

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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0043687 post-translational protein modification 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, 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

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
rs2058849 -- 22,058,997(-) ATTAC(A/G)TAGTT intron-variant
rs7135019 -- 22,056,157(+) GTTTC(A/G/T)TAGGG intron-variant
rs7138727 -- 22,062,937(+) CTTAA(A/G)TGTCC intron-variant
rs7138799 -- 22,062,724(+) AAACT(A/G)GAGAT intron-variant
rs12816759 -- 22,057,219(+) GTAAC(C/T)AGCTA 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

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CMAS Gene

Disorders for CMAS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
coffin-siris syndrome
  • dwarfism-onychodysplasia
flying phobia
tolosa-hunt syndrome
  • tolosa hunt syndrome
chronic follicular conjunctivitis
orbital plasma cell granuloma
  • orbital myositis
- elite association - COSMIC cancer census association via MalaCards
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Mammalian cytidine 5'-monophosphate N-acetylneuraminic acid synthetase: a nuclear protein with evolutionarily conserved structural motifs. (PMID: 9689047) MA1nster A.K. … Gerardy-Schahn R. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for CMAS Gene

Sources for CMAS Gene

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