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    Dph3 diphthamine biosynthesis 3 [ Mus musculus (house mouse) ]

    Gene ID: 105638, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Dph3provided by MGI
    Official Full Name
    diphthamine biosynthesis 3provided by MGI
    Primary source
    MGI:MGI:1922658
    See related
    Ensembl:ENSMUSG00000021905 AllianceGenome:MGI:1922658
    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
    Desr1; KTI11; Zcsl2; DELGIP1; DelgipP1
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in peptidyl-diphthamide biosynthetic process from peptidyl-histidine and tRNA wobble uridine modification. Predicted to be located in cytoplasm and nucleoplasm. Predicted to be active in cytosol and nucleus. Orthologous to several human genes including DPH3 (diphthamide biosynthesis 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 10.1), cerebellum adult (RPKM 7.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 B; 14 19.4 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (31802474..31807649, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (32080517..32085692, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53841 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 15 Neighboring gene STARR-seq mESC enhancer starr_36333 Neighboring gene oxidoreductase NAD-binding domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_36334 Neighboring gene STARR-seq mESC enhancer starr_36335 Neighboring gene predicted gene, 57612 Neighboring gene STARR-seq mESC enhancer starr_36337 Neighboring gene STARR-seq mESC enhancer starr_36339 Neighboring gene predicted gene, 41127 Neighboring gene beta-microseminoprotein

    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. Silencing of diphthamide synthesis 3 (Dph3) reduces metastasis of murine melanoma. Wang L, et al. PLoS One, 2012. PMID 23185508, Free PMC Article
    2. Dph3, a small protein required for diphthamide biosynthesis, is essential in mouse development. Liu S, et al. Mol Cell Biol, 2006 May. PMID 16648478, Free PMC Article
    3. Retroviral insertional mutagenesis identifies a small protein required for synthesis of diphthamide, the target of bacterial ADP-ribosylating toxins. Liu S, et al. Mol Cell, 2003 Sep. PMID 14527407
    4. Upregulation of μ3A Drives Homeostatic Plasticity by Rerouting AMPAR into the Recycling Endosomal Pathway. Steinmetz CC, et al. Cell Rep, 2016 Sep 6. PMID 27568566, Free PMC Article
    5. Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo. Harrison SM, et al. Development, 1995 Aug. PMID 7671812

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we found that Dph3 promotes melanoma migration and invasion through the AKT signaling pathway.
      Title: Silencing of diphthamide synthesis 3 (Dph3) reduces metastasis of murine melanoma.
    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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    General gene information

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    Markers

    Homology

    Clone Names

    • 2610018L09Rik, 5730511P15Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein histidyl modification to diphthamide IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm 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 nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    diphthamide biosynthesis protein 3
    Names
    CSL-type zinc finger-containing protein 2
    DPH3 homolog (KTI11, S. cerevisiae)
    delGEF-interacting protein 1
    zinc finger, CSL domain containing 2

    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_001047433.2 → NP_001040898.1  diphthamide biosynthesis protein 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC154846, AK048097, DN175457
      Consensus CDS
      CCDS36860.1
      UniProtKB/TrEMBL
      D3YXV3
      Related
      ENSMUSP00000120583.2, ENSMUST00000124303.9
      Conserved Domains (1) summary
      pfam05207
      Location:6 → 45
      zf-CSL; CSL zinc finger

    2. NM_001284346.1 → NP_001271275.1  diphthamide biosynthesis protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001271275.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC154846, AK048097, DN175457
      Consensus CDS
      CCDS36861.1
      UniProtKB/Swiss-Prot
      Q8K0W9
      Related
      ENSMUSP00000022461.5, ENSMUST00000022461.11
      Conserved Domains (1) summary
      pfam05207
      Location:6 → 60
      zf-CSL; CSL zinc finger

    3. NM_172254.4 → NP_758458.1  diphthamide biosynthesis protein 3 isoform 1

      See identical proteins and their annotated locations for NP_758458.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AC154846, AK048097, DN175457
      Consensus CDS
      CCDS36861.1
      UniProtKB/Swiss-Prot
      Q8K0W9
      Related
      ENSMUSP00000068491.6, ENSMUST00000067955.12
      Conserved Domains (1) summary
      pfam05207
      Location:6 → 60
      zf-CSL; CSL zinc finger

    RNA

    1. NR_104303.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC154846, AK048097, DN175457

    2. NR_104304.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC154846, AK017764, AK048097, DN175457
      Related
      ENSMUST00000112001.9

    3. NR_104305.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC154846, AK048097, BG082470, BY257422

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      31802474..31807649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K0W9.1 GenPept UniProtKB/Swiss-Prot:Q8K0W9

    Gene LinkOut

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

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