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    Impdh1 inosine monophosphate dehydrogenase 1 [ Mus musculus (house mouse) ]

    Gene ID: 23917, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Impdh1provided by MGI
    Official Full Name
    inosine monophosphate dehydrogenase 1provided by MGI
    Primary source
    MGI:MGI:96567
    See related
    Ensembl:ENSMUSG00000003500 AllianceGenome:MGI:96567
    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
    IMPDH-I; B930086D20Rik
    Summary
    Enables IMP dehydrogenase activity. Involved in 'de novo' XMP biosynthetic process and GMP biosynthetic process. Acts upstream of or within lymphocyte proliferation and purine nucleotide biosynthetic process. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in central nervous system and retina outer nuclear layer. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 11; retinitis pigmentosa; and retinitis pigmentosa 10. Orthologous to human IMPDH1 (inosine monophosphate dehydrogenase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thymus adult (RPKM 78.9), lung adult (RPKM 69.2) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Impdh1 in Genome Data Viewer
    Location:
    6 A3.3; 6 12.36 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (29200435..29216363, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (29200436..29216364, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 28 Neighboring gene STARR-positive B cell enhancer ABC_E3646 Neighboring gene proline-rich transmembrane protein 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:29155327-29155436 Neighboring gene STARR-positive B cell enhancer ABC_E8096 Neighboring gene STARR-seq mESC enhancer starr_15435 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:29182419-29182602 Neighboring gene predicted gene, 26021 Neighboring gene predicted gene, 40358

    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. Type I inosine monophosphate dehydrogenase: evidence for a single functional gene in mammalian species. Dayton JS, et al. Biochem Biophys Res Commun, 1993 Sep 15. PMID 7690562
    2. On the role of IMPDH1 in retinal degeneration. Kennan A, et al. Adv Exp Med Biol, 2003. PMID 15180242, Free PMC Article
    3. Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations. Aherne A, et al. Adv Exp Med Biol, 2006. PMID 17249559
    4. The functional impact of the C/N-terminal extensions of the mouse retinal IMPDH1 isoforms: a kinetic evaluation. Andashti B, et al. Mol Cell Biochem, 2020 Feb. PMID 31838626
    5. Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions. Plana-Bonamaisó A, et al. Elife, 2020 Apr 7. PMID 32254022, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Impact of Terminal Peptide Extensions of Retinal Inosine 5 Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities.
      Title: The Impact of Terminal Peptide Extensions of Retinal Inosine 5´Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities.
    2. Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions.
      Title: Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions.
    3. The functional impact of the C/N-terminal extensions of the mouse retinal IMPDH1 isoforms: a kinetic evaluation.
      Title: The functional impact of the C/N-terminal extensions of the mouse retinal IMPDH1 isoforms: a kinetic evaluation.
    4. TCR stimulation promotes IMPDH 1 and IMPDH 2 assembly in T lymphocytes.
      Title: T cell activation triggers reversible inosine-5'-monophosphate dehydrogenase assembly.
    5. IMPDH1 mutations cause photoreceptor degeneration in retinitis pigmentosa
      Title: Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations.
    6. Retinitis pigmentosa-causing mutations identified in IMPDH1 gene. High level of IMPDH1 in photoreceptors, low levels in other layers of retina.
      Title: On the role of IMPDH1 in retinal degeneration.
    7. We conclude that both IMPDH and HPRT activities contribute to normal T-lymphocyte activation and function
      Title: Targeted disruption of the inosine 5'-monophosphate dehydrogenase type I gene in mice.
    8. A mutation in this isozyme of Rho-/- mice was revealed in comparfative microarray analysis to be a homologue of the putative enzyme in human autosomal dominant retinitis pigmentosa.
      Title: Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (5) 
    • Targeted (1)  1 citation

    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 DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables IMP dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables IMP dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in 'de novo' XMP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GMP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GMP salvage TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in GTP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lymphocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within purine nucleotide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    inosine-5'-monophosphate dehydrogenase 1
    Names
    IMP dehydrogenase 1
    IMPD 1
    IMPDH 1
    inosine 5'-phosphate dehydrogenase 1
    NP_001289862.1
    NP_001289863.1
    NP_035959.2
    XP_006505128.2
    XP_006505129.2
    XP_011239360.1
    XP_030111227.1

    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_001302933.1 → NP_001289862.1  inosine-5'-monophosphate dehydrogenase 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI844845, AK047537, BC053416, BY203859, CK619435
      UniProtKB/TrEMBL
      F7DEU6
      Conserved Domains (1) summary
      PTZ00314
      Location:72 → 568
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

    2. NM_001302934.1 → NP_001289863.1  inosine-5'-monophosphate dehydrogenase 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter by one amino acid compared to isoform 1.
      Source sequence(s)
      AI844845, AK047537, BC053416, BY203859
      UniProtKB/TrEMBL
      F7DEU6
      Related
      ENSMUSP00000125077.3, ENSMUST00000162739.8
      Conserved Domains (1) summary
      PTZ00314
      Location:71 → 567
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

    3. NM_011829.3 → NP_035959.2  inosine-5'-monophosphate dehydrogenase 1 isoform 3

      See identical proteins and their annotated locations for NP_035959.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC079277, AI844845, BC053416
      Consensus CDS
      CCDS39449.1
      UniProtKB/Swiss-Prot
      P50096, Q7TSG7
      UniProtKB/TrEMBL
      E0CYE2
      Related
      ENSMUSP00000077289.6, ENSMUST00000078155.12
      Conserved Domains (3) summary
      cd00381
      Location:29 → 493
      IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...
      cd04602
      Location:115 → 230
      CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...
      PTZ00314
      Location:14 → 510
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      29200435..29216363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505066.3 → XP_006505129.2  inosine-5'-monophosphate dehydrogenase 1 isoform X2

      UniProtKB/TrEMBL
      F7DEU6
      Conserved Domains (1) summary
      PTZ00314
      Location:71 → 567
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

    2. XM_006505065.5 → XP_006505128.2  inosine-5'-monophosphate dehydrogenase 1 isoform X1

      UniProtKB/TrEMBL
      F7DEU6
      Conserved Domains (1) summary
      PTZ00314
      Location:72 → 568
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

    3. XM_011241058.4 → XP_011239360.1  inosine-5'-monophosphate dehydrogenase 1 isoform X3

      UniProtKB/TrEMBL
      F7DEU6
      Conserved Domains (1) summary
      PTZ00314
      Location:1 → 441
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

    4. XM_030255367.2 → XP_030111227.1  inosine-5'-monophosphate dehydrogenase 1 isoform X4

      UniProtKB/TrEMBL
      F7DEU6
      Conserved Domains (1) summary
      PTZ00314
      Location:1 → 441
      PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50096.2 GenPept UniProtKB/Swiss-Prot:P50096

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