Human Gene CMAS (ENST00000229329.7_4) from GENCODE V47lift37
  Description: cytidine monophosphate N-acetylneuraminic acid synthetase, transcript variant 1 (from RefSeq NM_018686.6)
Gencode Transcript: ENST00000229329.7_4
Gencode Gene: ENSG00000111726.13_7
Transcript (Including UTRs)
   Position: hg19 chr12:22,199,152-22,218,602 Size: 19,451 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr12:22,199,238-22,218,245 Size: 19,008 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:22,199,152-22,218,602)mRNA (may differ from genome)Protein (434 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEUA_HUMAN
DESCRIPTION: RecName: Full=N-acylneuraminate cytidylyltransferase; EC=2.7.7.43; AltName: Full=CMP-N-acetylneuraminic acid synthase; Short=CMP-NeuNAc synthase;
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).
CATALYTIC ACTIVITY: CTP + N-acylneuraminate = diphosphate + CMP-N- acylneuraminate.
PATHWAY: Amino-sugar metabolism; N-acetylneuraminate metabolism.
SUBUNIT: Homotetramer; the active enzyme is formed by a dimer of dimers.
SUBCELLULAR LOCATION: Nucleus.
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.
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).
SIMILARITY: Belongs to the CMP-NeuNAc synthase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CMAS
Diseases sorted by gene-association score: flying phobia (3), chronic follicular conjunctivitis (2), tolosa-hunt syndrome (2), hemopneumothorax (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 65.34 RPKM in Testis
Total median expression: 1337.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.9086-0.255 Picture PostScript Text
3' UTR -63.10357-0.177 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003329 - Cytidylyl_trans
IPR023214 - HAD-like_dom

Pfam Domains:
PF02348 - Cytidylyltransferase

SCOP Domains:
56784 - HAD-like
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on Q8NFW8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008781 N-acylneuraminate cytidylyltransferase activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity

Biological Process:
GO:0006054 N-acetylneuraminate metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  JF432877 - Synthetic construct Homo sapiens clone IMAGE:100074200 cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS) gene, encodes complete protein.
KJ904820 - Synthetic construct Homo sapiens clone ccsbBroadEn_14214 CMAS-like gene, encodes complete protein.
BC016609 - Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase, mRNA (cDNA clone MGC:5424 IMAGE:3448277), complete cds.
AL832975 - Homo sapiens mRNA; cDNA DKFZp666I142 (from clone DKFZp666I142).
JD257155 - Sequence 238179 from Patent EP1572962.
JD445423 - Sequence 426447 from Patent EP1572962.
AK022927 - Homo sapiens cDNA FLJ12865 fis, clone NT2RP2003643, moderately similar to Mus musculus mRNA for CMP-N-acetylneuraminic acid synthetase.
JD282592 - Sequence 263616 from Patent EP1572962.
AK222981 - Homo sapiens mRNA for cytidine 5'-monophosphate N-acetylneuraminic acid synthetase variant, clone: HSI02232.
AF271388 - Homo sapiens CMP-N-acetylneuraminic acid synthase mRNA, complete cds.
JD211709 - Sequence 192733 from Patent EP1572962.
JD332977 - Sequence 314001 from Patent EP1572962.
AF397212 - Homo sapiens cytidine monophospho-sialic acid synthase mRNA, complete cds.
AK124990 - Homo sapiens cDNA FLJ43000 fis, clone BRTHA2012555, moderately similar to Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS).
JD313284 - Sequence 294308 from Patent EP1572962.
JD314896 - Sequence 295920 from Patent EP1572962.
JD183318 - Sequence 164342 from Patent EP1572962.
JD347609 - Sequence 328633 from Patent EP1572962.
JD164537 - Sequence 145561 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6138 - CMP-N-acetylneuraminate biosynthesis I (eukaryotes)

Reactome (by CSHL, EBI, and GO)

Protein Q8NFW8 (Reactome details) participates in the following event(s):

R-HSA-4084982 CMAS transfers CMP from CTP to Neu5Ac, forming CMP-Neu5Ac
R-HSA-4085001 Sialic acid metabolism
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000229329.1, ENST00000229329.2, ENST00000229329.3, ENST00000229329.4, ENST00000229329.5, ENST00000229329.6, NEUA_HUMAN, NM_018686, Q8NFW8, Q96AX5, Q9NQZ0, uc317dqj.1, uc317dqj.2
UCSC ID: ENST00000229329.7_4
RefSeq Accession: NM_018686.6
Protein: Q8NFW8 (aka NEUA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.