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    Cmah cytidine monophospho-N-acetylneuraminic acid hydroxylase [ Mus musculus (house mouse) ]

    Gene ID: 12763, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cmahprovided by MGI
    Official Full Name
    cytidine monophospho-N-acetylneuraminic acid hydroxylaseprovided by MGI
    Primary source
    MGI:MGI:103227
    See related
    Ensembl:ENSMUSG00000016756 AllianceGenome:MGI:103227
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables CMP-N-acetylneuraminate monooxygenase activity. Acts upstream of or within CMP-N-acetylneuraminate metabolic process. Located in cytoplasm. Orthologous to human CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in spleen adult (RPKM 1.9), liver adult (RPKM 1.7) and 14 other tissues See more
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    Genomic context

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    See Cmah in Genome Data Viewer
    Location:
    13 A3.1; 13 10.34 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (24511387..24661272)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (24327404..24477289)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2401 Neighboring gene STARR-positive B cell enhancer ABC_E11536 Neighboring gene predicted gene, 23340 Neighboring gene ribosomal protein L27a pseudogene Neighboring gene STARR-seq mESC enhancer starr_33981 Neighboring gene predicted gene 11342 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:24484609-24484810 Neighboring gene STARR-positive B cell enhancer ABC_E11537 Neighboring gene STARR-positive B cell enhancer ABC_E9870 Neighboring gene STARR-positive B cell enhancer ABC_E4062 Neighboring gene STARR-positive B cell enhancer ABC_E3075 Neighboring gene STARR-positive B cell enhancer ABC_E5384 Neighboring gene STARR-positive B cell enhancer ABC_E8517 Neighboring gene STARR-seq mESC enhancer starr_33982 Neighboring gene STARR-positive B cell enhancer ABC_E5385 Neighboring gene STARR-positive B cell enhancer ABC_E3076 Neighboring gene predicted gene, 22013 Neighboring gene STARR-positive B cell enhancer ABC_E8518 Neighboring gene STARR-seq mESC enhancer starr_33983 Neighboring gene RHO family interacting cell polarization regulator 2 Neighboring gene X-linked lymphocyte-regulated 5 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Cmah deficiency blunts cellular senescence in adipose tissues and improves whole-body glucose metabolism in aged mice. Takeda R, et al. Geriatr Gerontol Int, 2023 Dec. PMID 37968438
    2. Pancreatic beta-cell failure in obese mice with human-like CMP-Neu5Ac hydroxylase deficiency. Kavaler S, et al. FASEB J, 2011 Jun. PMID 21350118, Free PMC Article
    3. Human xeno-autoantibodies against a non-human sialic acid serve as novel serum biomarkers and immunotherapeutics in cancer. Padler-Karavani V, et al. Cancer Res, 2011 May 1. PMID 21505105, Free PMC Article
    4. Metabolism of vertebrate amino sugars with N-glycolyl groups: mechanisms underlying gastrointestinal incorporation of the non-human sialic acid xeno-autoantigen N-glycolylneuraminic acid. Banda K, et al. J Biol Chem, 2012 Aug 17. PMID 22692204, Free PMC Article
    5. Germinal center marker GL7 probes activation-dependent repression of N-glycolylneuraminic acid, a sialic acid species involved in the negative modulation of B-cell activation. Naito Y, et al. Mol Cell Biol, 2007 Apr. PMID 17296732, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cmah deficiency blunts cellular senescence in adipose tissues and improves whole-body glucose metabolism in aged mice.
      Title: Cmah deficiency blunts cellular senescence in adipose tissues and improves whole-body glucose metabolism in aged mice.
    2. Human evolutionary loss of CMAH likely contributes to atherosclerosis predisposition via multiple intrinsic and extrinsic mechanisms.
      Title: Human species-specific loss of CMP-N-acetylneuraminic acid hydroxylase enhances atherosclerosis via intrinsic and extrinsic mechanisms.
    3. These findings have the potential to significantly advance our understanding of how this enigmatic tumor-associated antigen is produced in humans, and also suggest a possible mechanism of action of anti-tumor antibodies that recognize hypoxia markers, such as 14F7.
      Title: Hypothesis: Hypoxia induces de novo synthesis of NeuGc gangliosides in humans through CMAH domain substitute.
    4. this study shows that Cmah(-/-) mice manifest a decreased survival in endotoxemia following bacterial lipopolysaccharide injection, and that macrophages from Cmah(-/-) mice secrete more inflammatory cytokines with LPS stimulation and show more phagocytic activity
      Title: Loss of CMAH during Human Evolution Primed the Monocyte-Macrophage Lineage toward a More Inflammatory and Phagocytic State.
    5. Used CMP-Neu5Ac Hydroxylase null mouse models to study the modification/turnover of gene products that are altered in humans due to evolutionary loss of Neu5Gc.
      Title: CMP-Neu5Ac Hydroxylase Null Mice as a Model for Studying Metabolic Disorders Caused by the Evolutionary Loss of Neu5Gc in Humans.
    6. The target miRNAs are closely associated with dysregulation of insulin/PI3K-AKT signaling, suggesting that the Cmah-null mice could be a useful model for studying diabetes.
      Title: MicroRNA dysregulation in liver and pancreas of CMP-Neu5Ac hydroxylase null mice disrupts insulin/PI3K-AKT signaling.
    7. Mice bearing a human-like deletion of the Cmah gene serve as an important model for the study of abnormal pathogenesis and/or metabolism caused by the evolutionary loss of Neu5Gc synthesis in humans.
      Title: Gene expression and pathway analysis of effects of the CMAH deactivation on mouse lung, kidney and heart.
    8. In vitro T cell proliferation and activation is augmented in Cmah-deficient mice.
      Title: Enhanced T cell function in a mouse model of human glycosylation.
    9. This study showed that mice bearing a human-like deletion of the Cmah gene exhibit fasting hyperglycemia and glucose intolerance following a high-fat diet.
      Title: Pancreatic beta-cell failure in obese mice with human-like CMP-Neu5Ac hydroxylase deficiency.
    10. A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.
      Title: A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables CMP-N-acetylneuraminate monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CMP-N-acetylneuraminate monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables CMP-N-acetylneuraminate monooxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in CMP-N-acetylneuraminate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within CMP-N-acetylneuraminate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in N-acetylneuraminate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cytidine monophosphate-N-acetylneuraminic acid hydroxylase
    Names
    CMP-N-acetylneuraminate monooxygenase
    CMP-N-acetylneuraminic acid hydroxylase
    CMP-Neu5Ac hydroxylase
    CMP-NeuAc hydroxylase
    NP_001104580.1
    NP_001271448.1
    NP_001271449.1
    NP_031743.3
    XP_011242567.1
    XP_011242568.1
    XP_011242576.1
    XP_036013735.1

    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_001111110.2 → NP_001104580.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform a

      See identical proteins and their annotated locations for NP_001104580.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 encode the same protein (isoform a).
      Source sequence(s)
      AA122526, AB061276, AK083394, AL589744, AL590864
      Consensus CDS
      CCDS26376.1
      UniProtKB/Swiss-Prot
      Q61419, Q7TMR9, Q8JZM9
      UniProtKB/TrEMBL
      Q3TLI9
      Related
      ENSMUSP00000129007.2, ENSMUST00000167746.8
      Conserved Domains (3) summary
      COG2220
      Location:135 → 252
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:6 → 112
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
      cl23716
      Location:138 → 208
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    2. NM_001284519.1 → NP_001271448.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform a

      See identical proteins and their annotated locations for NP_001271448.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA122526, AB061277, AK083394, AL589744, AL590864
      Consensus CDS
      CCDS26376.1
      UniProtKB/Swiss-Prot
      Q61419, Q7TMR9, Q8JZM9
      UniProtKB/TrEMBL
      Q3TLI9
      Related
      ENSMUSP00000061045.6, ENSMUST00000050859.13
      Conserved Domains (3) summary
      COG2220
      Location:135 → 252
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:6 → 112
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
      cl23716
      Location:138 → 208
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    3. NM_001284520.1 → NP_001271449.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform b

      See identical proteins and their annotated locations for NP_001271449.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region, compared to variant 3. The resulting protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AA122526, AK083394, AL589744, BC055079, CA577904
      UniProtKB/TrEMBL
      Q3TLI9
      Related
      ENSMUSP00000153248.2, ENSMUST00000224819.2
      Conserved Domains (3) summary
      COG2220
      Location:135 → 252
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:6 → 112
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
      cl23716
      Location:138 → 208
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    4. NM_007717.5 → NP_031743.3  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform a

      See identical proteins and their annotated locations for NP_031743.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 encode the same protein (isoform a).
      Source sequence(s)
      AA122526, AK083394, AL589744, BC055079, CA577904
      Consensus CDS
      CCDS26376.1
      UniProtKB/Swiss-Prot
      Q61419, Q7TMR9, Q8JZM9
      UniProtKB/TrEMBL
      Q3TLI9
      Related
      ENSMUSP00000153495.2, ENSMUST00000224657.2
      Conserved Domains (3) summary
      COG2220
      Location:135 → 252
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:6 → 112
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
      cl23716
      Location:138 → 208
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      24511387..24661272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157842.1 → XP_036013735.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X3

    2. XM_011244265.4 → XP_011242567.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X1

      See identical proteins and their annotated locations for XP_011242567.1

      UniProtKB/TrEMBL
      Q3TLI9
      Conserved Domains (2) summary
      COG2220
      Location:138 → 255
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:9 → 115
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...

    3. XM_011244266.4 → XP_011242568.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X1

      See identical proteins and their annotated locations for XP_011242568.1

      UniProtKB/TrEMBL
      Q3TLI9
      Conserved Domains (2) summary
      COG2220
      Location:138 → 255
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:9 → 115
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...

    4. XM_011244274.4 → XP_011242576.1  cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X2

      UniProtKB/TrEMBL
      Q3TLI9
      Conserved Domains (2) summary
      COG2220
      Location:138 → 255
      UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
      cd03473
      Location:9 → 115
      Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61419.1 GenPept UniProtKB/Swiss-Prot:Q61419

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