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    Dph5 diphthamide biosynthesis 5 [ Mus musculus (house mouse) ]

    Gene ID: 69740, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Dph5provided by MGI
    Official Full Name
    diphthamide biosynthesis 5provided by MGI
    Primary source
    MGI:MGI:1916990
    See related
    Ensembl:ENSMUSG00000033554 AllianceGenome:MGI:1916990
    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
    2410012M04Rik
    Summary
    Enables diphthine synthase activity. Involved in protein histidyl modification to diphthamide. Is active in cytosol. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties. Orthologous to human DPH5 (diphthamide biosynthesis 5). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 6.2), CNS E11.5 (RPKM 5.5) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dph5 in Genome Data Viewer
    Location:
    3 G1; 3 50.13 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (115681785..115728010)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (115888116..115934361)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11211 Neighboring gene STARR-positive B cell enhancer ABC_E2096 Neighboring gene STARR-seq mESC enhancer starr_08763 Neighboring gene predicted gene 9889 Neighboring gene STARR-positive B cell enhancer ABC_E7938 Neighboring gene STARR-positive B cell enhancer ABC_E11212 Neighboring gene STARR-seq mESC enhancer starr_08765 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:115518463-115518646 Neighboring gene STARR-seq mESC enhancer starr_08766 Neighboring gene RIKEN cDNA A930005H10 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:115591074-115591257 Neighboring gene predicted gene, 54180 Neighboring gene solute carrier family 30 (zinc transporter), member 7 Neighboring gene E74-like factor 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E4581 Neighboring gene microRNA 669n

    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. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Shankar SP, et al. Genet Med, 2022 Jul. PMID 35482014, Free PMC Article
    2. The post-translational trimethylation of diphthamide studied in vitro. Moehring JM, et al. J Biol Chem, 1988 Mar 15. PMID 3346227
    3. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. Young JE, et al. J Neurosci, 2009 Feb 18. PMID 19228953, Free PMC Article
    4. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. Liu S, et al. Mol Cell Biol, 2004 Nov. PMID 15485916, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
      Title: A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
    2. Misfolded AR protein in the cytosol thus initiates a cascade of events beginning with JNK and culminating in Bax-dependent, intrinsic pathway activation, mediated in part by DP5/Hrk.
      Title: Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 diphthine methyl ester synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables diphthine synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein histidyl modification to diphthamide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein histidyl modification to diphthamide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein histidyl modification to diphthamide ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    diphthine methyl ester synthase
    Names
    DPH5 homolog
    diphthamide biosynthesis methyltransferase
    diphthine synthase
    NP_081469.2
    XP_036019191.1

    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_027193.3 → NP_081469.2  diphthine methyl ester synthase

      See identical proteins and their annotated locations for NP_081469.2

      Status: VALIDATED

      Source sequence(s)
      AC131113
      Consensus CDS
      CCDS17782.1
      UniProtKB/Swiss-Prot
      Q6PAC5, Q9CWQ0
      Related
      ENSMUSP00000043730.10, ENSMUST00000043342.10
      Conserved Domains (1) summary
      PTZ00175
      Location:1 → 272
      PTZ00175; diphthine synthase; 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_000069.7 Reference GRCm39 C57BL/6J

      Range
      115681785..115728010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163298.1 → XP_036019191.1  diphthine methyl ester synthase isoform X1

      UniProtKB/TrEMBL
      V9GXP1
      Related
      ENSMUSP00000139249.2, ENSMUST00000185098.8
      Conserved Domains (1) summary
      cl00304
      Location:1 → 178
      TP_methylase; S-AdoMet-dependent tetrapyrrole methylases

    RNA

    1. XR_003954378.2 RNA Sequence

    2. XR_003954379.2 RNA Sequence

    3. XR_004941388.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CWQ0.2 GenPept UniProtKB/Swiss-Prot:Q9CWQ0

    Gene LinkOut

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

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