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    Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 [ Mus musculus (house mouse) ]

    Gene ID: 107652, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Uap1provided by MGI
    Official Full Name
    UDP-N-acetylglucosamine pyrophosphorylase 1provided by MGI
    Primary source
    MGI:MGI:1334459
    See related
    Ensembl:ENSMUSG00000026670 AllianceGenome:MGI:1334459
    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
    Also known as
    AgX; AGX1; AGX-1; AGX-2; SPAG2; ESTM38
    Summary
    Predicted to enable UDP-N-acetylglucosamine diphosphorylase activity; carbohydrate binding activity; and identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Predicted to be located in cytosol; nucleoplasm; and plasma membrane. Orthologous to human UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 10.9), colon adult (RPKM 10.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 H3; 1 76.84 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (169967473..170002358, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (170141223..170174964, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 3110045C21 gene Neighboring gene STARR-positive B cell enhancer ABC_E501 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 7 Neighboring gene discoidin domain receptor family, member 2 Neighboring gene STARR-seq mESC enhancer starr_02981 Neighboring gene STARR-seq mESC enhancer starr_02982 Neighboring gene STARR-seq mESC enhancer starr_02983 Neighboring gene STARR-seq mESC enhancer starr_02984 Neighboring gene STARR-seq mESC enhancer starr_02986 Neighboring gene STARR-positive B cell enhancer ABC_E4380 Neighboring gene STARR-seq mESC enhancer starr_02987 Neighboring gene STARR-positive B cell enhancer ABC_E3325 Neighboring gene U2AF homology motif (UHM) kinase 1 Neighboring gene STARR-seq mESC enhancer starr_02988 Neighboring gene STARR-seq mESC enhancer starr_02989 Neighboring gene SH2 domain containing 1B2

    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
    • 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. Metabolic enzyme UAP1 mediates IRF3 pyrophosphorylation to facilitate innate immune response. Yang S, et al. Mol Cell, 2023 Jan 19. PMID 36603579
    2. Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate. Cibi DM, et al. Elife, 2019 Jun 26. PMID 31241461, Free PMC Article
    3. Large tumor suppressor homologs 1 and 2 regulate mouse liver progenitor cell proliferation and maturation through antagonism of the coactivators YAP and TAZ. Yi J, et al. Hepatology, 2016 Nov. PMID 27531557, Free PMC Article
    4. The splicing regulators Esrp1 and Esrp2 direct an epithelial splicing program essential for mammalian development. Bebee TW, et al. Elife, 2015 Sep 15. PMID 26371508, Free PMC Article
    5. Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp). Eddleston J, et al. Genomics, 1999 Mar 1. PMID 10051400

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Metabolic enzyme UAP1 mediates IRF3 pyrophosphorylation to facilitate innate immune response.
      Title: Metabolic enzyme UAP1 mediates IRF3 pyrophosphorylation to facilitate innate immune response.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 MGI

    Function Evidence Code Pubs
    enables UDP-N-acetylgalactosamine diphosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-N-acetylglucosamine diphosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine diphosphorylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine pyrophosphorylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables uridylyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in UDP-N-acetylglucosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-N-acetylglucosamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in antiviral innate immune response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of type I interferon production ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    UDP-N-acetylhexosamine pyrophosphorylase
    Names
    UDP-N-acetylgalactosamine pyrophosphorylase
    antigen X
    protein-pyrophosphorylation enzyme
    sperm associated antigen 2
    NP_001291974.1
    NP_001291975.1
    NP_001407623.1
    NP_001407624.1
    NP_001407625.1
    NP_001407626.1
    NP_001407627.1
    NP_598567.2
    XP_006496671.3

    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_001305045.3 → NP_001291974.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 1

      See identical proteins and their annotated locations for NP_001291974.1

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      Consensus CDS
      CCDS83632.1
      UniProtKB/Swiss-Prot
      Q8BG76, Q8BXD6, Q8VD59, Q91YN5
      UniProtKB/TrEMBL
      Q3UHZ7
      Related
      ENSMUSP00000106983.4, ENSMUST00000111351.10
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    2. NM_001305046.3 → NP_001291975.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 3

      See identical proteins and their annotated locations for NP_001291975.1

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      Consensus CDS
      CCDS83631.1
      UniProtKB/Swiss-Prot
      Q8BG76, Q8BXD6, Q8VD59, Q91YN5
      UniProtKB/TrEMBL
      A0A0R4J1F6
      Related
      ENSMUSP00000106982.4, ENSMUST00000111350.10
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    3. NM_001420694.1 → NP_001407623.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      UniProtKB/TrEMBL
      Q3UHZ7

    4. NM_001420695.2 → NP_001407624.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      UniProtKB/TrEMBL
      A0A0R4J085

    5. NM_001420696.2 → NP_001407625.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      UniProtKB/TrEMBL
      A0A0R4J085

    6. NM_001420697.1 → NP_001407626.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      UniProtKB/TrEMBL
      A0A0R4J1F6

    7. NM_001420698.2 → NP_001407627.1  UDP-N-acetylhexosamine pyrophosphorylase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      UniProtKB/TrEMBL
      A0A0R4J1F6

    8. NM_133806.7 → NP_598567.2  UDP-N-acetylhexosamine pyrophosphorylase isoform 2

      See identical proteins and their annotated locations for NP_598567.2

      Status: VALIDATED

      Source sequence(s)
      AC119893, AC123650
      Consensus CDS
      CCDS15467.1
      UniProtKB/Swiss-Prot
      Q8BG76, Q8BXD6, Q8VD59, Q91YN5
      UniProtKB/TrEMBL
      A0A0R4J085
      Related
      ENSMUSP00000027981.8, ENSMUST00000027981.8
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      169967473..170002358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496608.5 → XP_006496671.3  UDP-N-acetylhexosamine pyrophosphorylase isoform X3

      UniProtKB/Swiss-Prot
      Q8BG76, Q8BXD6, Q8VD59, Q91YN5
      Conserved Domains (1) summary
      cd04193
      Location:112 → 434
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YN5.1 GenPept UniProtKB/Swiss-Prot:Q91YN5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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