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

Gene ID: 23917, updated on 21-Apr-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 cytosol and 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, Apr 2022]
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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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. 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
  2. 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
  3. Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations. Aherne A, et al. Adv Exp Med Biol, 2006. PMID 17249559
  4. On the role of IMPDH1 in retinal degeneration. Kennan A, et al. Adv Exp Med Biol, 2003. PMID 15180242, Free PMC Article
  5. 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

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. TCR stimulation promotes IMPDH 1 and IMPDH 2 assembly in T lymphocytes.
    Title: T cell activation triggers reversible inosine-5'-monophosphate dehydrogenase assembly.
  4. IMPDH1 mutations cause photoreceptor degeneration in retinitis pigmentosa
    Title: Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations.
  5. 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.
  6. 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.
  7. 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)
  • Targeted (1)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (5) 

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 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 catalytic activity IEA
Inferred from Electronic Annotation
more info
  
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 oxidoreductase activity 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 nucleus ISO
Inferred from Sequence Orthology
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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