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

    Gene ID: 55907, updated on 28-Oct-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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. 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
    3. 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
    4. 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
    5. 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

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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.

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