U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CMAS cytidine monophosphate N-acetylneuraminic acid synthetase [ Homo sapiens (human) ]

Gene ID: 55907, updated on 27-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
CMASprovided by HGNC
Official Full Name
cytidine monophosphate N-acetylneuraminic acid synthetaseprovided by HGNC
Primary source
HGNC:HGNC:18290
See related
Ensembl:ENSG00000111726 MIM:603316; AllianceGenome:HGNC:18290
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSS
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 46.2), colon (RPKM 38.5) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CMAS in Genome Data Viewer
Location:
12p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (22046218..22065668)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21924274..21943724)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22199152..22218602)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369689 Neighboring gene ATP binding cassette subfamily C member 9 Neighboring gene VISTA enhancer hs2151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22052130-22052630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22052631-22053131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22093793-22094770 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22199579-22200284 Neighboring gene Sharpr-MPRA regulatory region 13841 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:22201245-22201850 Neighboring gene thioesterase superfamily member 4 pseudogene 1 Neighboring gene uncharacterized LOC105369690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4287 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22289754-22290362 Neighboring gene sulfotransferase family 6B member 2, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26529 Neighboring gene RNA, U1 small nuclear 149, pseudogene Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. Qu R, et al. Ann Hum Genet, 2020 Jan. PMID 31495922
  2. A C-terminal phosphatase module conserved in vertebrate CMP-sialic acid synthetases provides a tetramerization interface for the physiologically active enzyme. Oschlies M, et al. J Mol Biol, 2009 Oct 16. PMID 19666032
  3. Nuclear localization signal of murine CMP-Neu5Ac synthetase includes residues required for both nuclear targeting and enzymatic activity. Munster AK, et al. J Biol Chem, 2002 May 31. PMID 11893746
  4. Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells. Lawrence SM, et al. Glycoconj J, 2001 Mar. PMID 11602804
  5. CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1. Ma Y, et al. Mol Med Rep, 2016 Aug. PMID 27357083, Free PMC Article

See all (85) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acylneuraminate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in CMP-N-acetylneuraminate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in N-acetylneuraminate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
N-acylneuraminate cytidylyltransferase
Names
CMP-N-acetylneuraminic acid synthase
CMP-N-acetylneuraminic acid synthetase
CMP-Neu5Ac synthetase
CMP-NeuNAc synthase
CMP-NeuNAc synthetase
CMP-sialic acid synthetase
cytidine 5'-monophosphate N-acetylneuraminic acid synthetase
NP_061156.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_018686.6 → NP_061156.1  N-acylneuraminate cytidylyltransferase

    See identical proteins and their annotated locations for NP_061156.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AL832975, DA344740, DB527942
    Consensus CDS
    CCDS8696.1
    UniProtKB/Swiss-Prot
    Q8NFW8, Q96AX5, Q9NQZ0
    UniProtKB/TrEMBL
    Q53GF0
    Related
    ENSP00000229329.2, ENST00000229329.7
    Conserved Domains (2) summary
    cd02513
    Location:44 → 259
    CMP-NeuAc_Synthase; CMP-NeuAc_Synthase activates N-acetylneuraminic acid by adding CMP moiety
    cl21460
    Location:270 → 421
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. NR_135117.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC016609, DA344740, DB527942
    Related
    ENST00000534981.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    22046218..22065668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    21924274..21943724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFW8.2 GenPept UniProtKB/Swiss-Prot:Q8NFW8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous