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

Gene ID: 55907, updated on 6-Jan-2019

Summary

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
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

Genomic context

See CMAS in Genome Data Viewer
Location:
12p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (22046174..22065674)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22199108..22218608)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily C member 9 Neighboring gene VISTA enhancer hs2151 Neighboring gene thioesterase superfamily member 4 pseudogene 1 Neighboring gene uncharacterized LOC105369690 Neighboring gene sulfotransferase family 6B member 2, pseudogene 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

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acylneuraminate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acylneuraminate cytidylyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
N-acetylneuraminate metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 

General protein information

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)

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_018686.6NP_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
    Related
    ENSP00000229329.2, ENST00000229329.6
    Conserved Domains (2) summary
    cd02513
    Location:44259
    CMP-NeuAc_Synthase; CMP-NeuAc_Synthase activates N-acetylneuraminic acid by adding CMP moiety
    cl21460
    Location:270421
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. NR_135117.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    22046174..22065674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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