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CMAS Gene

protein-coding   GIFtS: 59
GCID: GC12P022199

Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase1 2     CMP-N-Acetylneuraminic Acid Synthetase2
CMP-Neu5Ac Synthetase1 2     CMP-NeuNAc Synthetase2
CMP-N-Acetylneuraminic Acid Synthase2 3     CMP-Sialic Acid Synthetase2
CMP-NeuNAc Synthase2 3     Cytidine 5'-Monophosphate N-Acetylneuraminic Acid Synthetase2
EC 2.7.7.433 8     N-Acylneuraminate Cytidylyltransferase2
CSS2     

External Ids:    HGNC: 182901   Entrez Gene: 559072   Ensembl: ENSG000001117267   OMIM: 6033165   UniProtKB: Q8NFW83   

Export aliases for CMAS gene to outside databases

Previous GC identifers: GC12P022551 GC12P022200 GC12P022099 GC12P022090 GC12P021972


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CMAS Gene:
Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal
role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is
highly regulated during embryonic development and N-glycosylation is a common post-translational modification
during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune
responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a
cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase.
(provided by RefSeq, Jul 2012)

GeneCards Summary for CMAS Gene:
CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase) is a protein-coding gene. Diseases associated with CMAS include kidney sarcoma, and childhood type dermatomyositis. GO annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.

UniProtKB/Swiss-Prot: NEUA_HUMAN, Q8NFW8
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)

Gene Wiki entry for CMAS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009714.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CMAS gene promoter:
         STAT1   RP58   Pax-5   STAT1beta   Lmo2   STAT1alpha   c-Ets-1   C/EBPalpha   FOXL1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCMAS promoter sequence
   Search Chromatin IP Primers for CMAS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CMAS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

CMAS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMAS gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P022199:  view genomic region     (about GC identifiers)

Start:
22,199,108 bp from pter      End:
22,218,608 bp from pter
Size:
19,501 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NEUA_HUMAN, Q8NFW8 (See protein sequence)
Recommended Name: N-acylneuraminate cytidylyltransferase  
Size: 434 amino acids; 48379 Da
Subunit: Homotetramer; the active enzyme is formed by a dimer of dimers
Secondary accessions: Q96AX5 Q9NQZ0
Alternative splicing: 2 isoforms:  Q8NFW8-1   Q8NFW8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CMAS: NX_Q8NFW8

Explore proteomics data for CMAS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys382, Lys399
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CMAS (Q8NFW8) (see all 10)
     EIQKGVRE  IQATSPCLHP  AQKAVGYICK  RPRRQDWDGEL 


    See CMAS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061156.1  
    ENSEMBL proteins: 
     ENSP00000229329   ENSP00000446239   ENSP00000439404   ENSP00000440605  
    Reactome Protein details: Q8NFW8

    CMAS Human Recombinant Protein Products:

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    Novus Biologicals CMAS Proteins
    Novus Biologicals CMAS Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CMAS

    CMAS Antibody Products:

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    CMAS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for CMAS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR023214 HAD-like_dom
     IPR003329 Cytidylyl_trans

    Graphical View of Domain Structure for InterPro Entry Q8NFW8

    ProtoNet protein and cluster: Q8NFW8

    UniProtKB/Swiss-Prot: NEUA_HUMAN, Q8NFW8
    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


    CMAS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEUA_HUMAN, Q8NFW8
    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

         Enzyme Number (IUBMB): EC 2.7.7.431 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008781N-acylneuraminate cytidylyltransferase activity IEA--
         
    CMAS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CMAS:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CMAS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CMAS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CMAS

    miRNA
    Products:
        
    miRTarBase miRNAs that target CMAS:
    hsa-mir-320a (MIRT044783), hsa-mir-375 (MIRT019892), hsa-mir-320b (MIRT036233), hsa-mir-34a-5p (MIRT025499), hsa-mir-421 (MIRT039435)

    Block miRNA regulation of human, mouse, rat CMAS using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CMAS:
    hsa-miR-4311 hsa-miR-520d-5p hsa-miR-4251 hsa-miR-200c* hsa-miR-524-5p hsa-miR-548c-3p hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidCMAS 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CMAS
    Predesigned siRNA for gene silencing in human, mouse, rat CMAS

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CMAS (see all 6)
    OriGene ORF clones in mouse, rat for CMAS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CMAS (NM_018686)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CMAS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CMAS
    Browse ESI BIO Cell Lines and PureStem Progenitors for CMAS 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEUA_HUMAN, Q8NFW8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    endoplasmic reticulum1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    CMAS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CMAS About    
    See pathways by source

    SuperPathContained pathways About
    1Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    CMP-N-acetylneuraminate biosynthesis I (eukaryotes)0.00
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CMAS
        CMP-N-acetylneuraminate biosynthesis I (eukaryotes)

    1 Reactome Pathway for CMAS
        Sialic acid metabolism


    2 Kegg Pathways  (Kegg details for CMAS):
        Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NEUA_HUMAN, Q8NFW8
    Pathway: Amino-sugar metabolism; N-acetylneuraminate metabolism


    CMAS for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CMAS
    Interactions:

        Search GeneGlobe Interaction Network for CMAS

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for CMAS (Q8NFW83 ENSP000002293294) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXO3O435243I2D: score=1 
    PRKAA1Q131313I2D: score=1 
    SIGLEC12Q96PQ13I2D: score=1 
    NANPENSP000003024414STRING: ENSP00000302441
    NANSENSP000002104444STRING: ENSP00000210444
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006054N-acetylneuraminate metabolic process IEA--
    GO:0009103lipopolysaccharide biosynthetic process IEA--

    CMAS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CMAS (NEUA)

    9 HMDB Compounds for CMAS    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid2-KDN (see all 18)22594-61-2--
    CMP-N-glycoloylneuraminateCMP-n-glycolylneuraminate (see all 5)98300-80-2--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Cytidine monophosphate N-acetylneuraminic acidCMP-N-acetylneuraminate (see all 6)22-12-8--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    N-Acetylneuraminic acidSialic acid (see all 55)131-48-6--
    N-Glycolylneuraminic acid3,5-dideoxy-5-((hydroxyacetyl)amino)-D-glycero-D-galacto-2-Nonulosonate (see all 9)1113-83-3--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for CMAS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cytidine-5'-Monophosphate-5-N-Acetylneuraminic Acid-- --target--17139284 17016423 10592235

    3 Novoseek inferred chemical compound relationships for CMAS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ctp 77.1 1 10052589 (1)
    sialic acid 69.1 7 7961510 (1), 10052589 (1), 10094482 (1)
    polysaccharide 60.5 1 7961510 (1)



    CMAS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CMAS gene: 
    NM_018686.4  

    Unigene Cluster for CMAS:

    Cytidine monophosphate N-acetylneuraminic acid synthetase
    Hs.311346  [show with all ESTs]
    Unigene Representative Sequence: AK124990
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000229329(uc001rfm.3) ENST00000534981(uc001rfn.3) ENST00000535610
    ENST00000538498 ENST00000537658
    miRNA
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    Block miRNA regulation of human, mouse, rat CMAS using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CMAS:
    hsa-miR-4311 hsa-miR-520d-5p hsa-miR-4251 hsa-miR-200c* hsa-miR-524-5p hsa-miR-548c-3p hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidCMAS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CMAS
    Clone
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    OriGene clones in human, mouse for CMAS (see all 6)
    OriGene ORF clones in mouse, rat for CMAS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CMAS (NM_018686)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CMAS
    Primer
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    OriGene qPCR primer pairs and template standards for CMAS
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CMAS
      QuantiTect SYBR Green Assays in human, mouse, rat CMAS
      QuantiFast Probe-based Assays in human, mouse, rat CMAS

    Additional mRNA sequence: 

    AF271388.1 AF397212.1 AK022927.1 AK124990.1 AK222981.1 AL832975.1 BC016609.1 

    12 DOTS entries:

    DT.446033  DT.100000533  DT.86854509  DT.100776067  DT.100783633  DT.100783642  DT.100783644  DT.121124287 
    DT.92440630  DT.121124206  DT.121124210  DT.95137723 

    Selected AceView cDNA sequences (see all 241):

    BU676876 AI950286 CA772120 NM_018686 CK818927 AU126663 BM671960 BC016609 
    CR625607 AL533530 AA307074 AL832975 AI298307 AA886305 AL542712 CR626093 
    AL537974 CR622845 AW836252 BQ438805 BQ777215 CR614682 AA843338 AI340362 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CMAS    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
    SP1:                                -                                 
    SP2:                                -           -                     
    SP3:                                                                  


    ECgene alternative splicing isoforms for CMAS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CMAS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTCTATT
    CMAS Expression
    About this image


    CMAS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CMAS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CMAS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.311346

    UniProtKB/Swiss-Prot: NEUA_HUMAN, Q8NFW8
    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

        Custom PCR Arrays for CMAS
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    QuantiFast Probe-based Assays in human, mouse, rat CMAS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CMAS gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cmas1 , 5 cytidine monophospho-N-acetylneuraminic acid synthetase1, 5 87.65(n)1
    94.21(a)1
      6 (74.66 cM)5
    127641  NM_009908.21  NP_034038.21 
     1427566865 
    chicken
    (Gallus gallus)
    Aves CMAS1 cytidine monophosphate N-acetylneuraminic acid synthetase 75.97(n)
    77(a)
      418199  XM_416429.4  XP_416429.1 
    lizard
    (Anolis carolinensis)
    Reptilia CMAS6
    cytidine monophosphate N-acetylneuraminic acid syn...
    79(a)
    1 ↔ 1
    5(6549843-6564885)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74912 Xenopus laevis transcribed sequence with moderate similarity more 72.85(n)    BU912074.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.71452 Transcribed sequence with weak similarity to protein more 76.2(n)    57058298 
    fruit fly
    (Drosophila melanogaster)
    Insecta Csas1 CMP-sialic acid synthase 50.29(n)
    38.01(a)
      317923  NM_168828.2  NP_730474.1 


    ENSEMBL Gene Tree for CMAS (if available)
    TreeFam Gene Tree for CMAS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CMAS (see all 494)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs339468201,2
    C--22082906(+) AATCC-/T/T   
       T
    /TTT
    TTTTT
    1 -- int11NA 2
    rs1897888491,2
    --22197370(+) CAAAGA/GCCCTA 1 -- us2k10--------
    rs1156443111,2
    F--22197416(+) TTGCCC/GTTCAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1488205841,2
    --22197481(+) CTCACA/CGCCTC 1 -- us2k10--------
    rs1835406171,2
    --22197495(+) TATCTG/TTGTCT 1 -- us2k10--------
    rs29555021,2
    C,F,H--22197504(+) CTGCAT/CGAAGC 1 -- us2k127Minor allele frequency- C:0.09NS EA NA WA CSA 2053
    rs1887726981,2
    --22197608(+) AAAACA/GTCAAA 1 -- us2k10--------
    rs1932102721,2
    --22197643(+) GGCCAA/GGACCT 1 -- us2k10--------
    rs38092051,2
    C,F,H--22197751(-) AGTAGA/GGTCTT 1 -- us2k115Minor allele frequency- G:0.05NS EA NA 2104
    rs714486201,2
    C--22197848(+) CCTAAG/AAGAGG 1 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for CMAS (22199108 - 22218608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CMAS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv438196CNV Loss16468122
    essv14178CNV CNV17122850
    dgv482e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CMAS
    DNA2.0 Custom Variant and Variant Library Synthesis for CMAS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603316    OMIM disorders: --

    16 diseases for CMAS:    
    About MalaCards
    kidney sarcoma    childhood type dermatomyositis    kidney fibrosarcoma    chancroid
    dermatomyositis    fibrosarcoma    meningitis    influenza
    alzheimer's disease    sarcoma    tonsillitis    cerebritis
    malaria    thyroiditis    prostatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for CMAS:
    Kidney sarcoma

    CMAS for disorders           About GeneDecksing


    Export disorders for CMAS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CMAS gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with CMAS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells. (PubMed id 11602804)1, 2 Lawrence S.M.... Betenbaugh M.J. (Glycoconj. J. 2001)
    4. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1, 3 Hillier L.D....Marra M. (Genome Res. 1996)
    5. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1, 3 Adams M.D.... White O. (Nature 1995)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55907 HGNC: 18290 AceView: CMAS Ensembl:ENSG00000111726 euGenes: HUgn55907
    ECgene: CMAS Kegg: 55907 H-InvDB: CMAS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CMAS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CMAS gene:
    Search GeneIP for patents involving CMAS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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