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

    Gene ID: 55907, updated on 3-Nov-2024

    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; 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
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    Genomic context

    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

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    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)

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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_018686.6NP_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, Q96AX5, Q9NQZ0
      UniProtKB/TrEMBL
      Q53GF0
      Related
      ENSP00000229329.2, ENST00000229329.7
      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_135117.2 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)
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