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    Dph1 Diphthamide biosynthesis 1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 39317, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Dph1provided by FlyBase
    Official Full Name
    Diphthamide biosynthesis 1provided by FlyBase
    Primary source
    FLYBASE:FBgn0036194
    Locus tag
    Dmel_CG11652
    See related
    AllianceGenome:FB:FBgn0036194
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG11652; Dmel\CG11652
    Summary
    Predicted to enable 2-(3-amino-3-carboxypropyl)histidine synthase activity. Predicted to be involved in protein histidyl modification to diphthamide. Predicted to be located in cytoplasm. Predicted to be part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in several structures, including amnioserosa; anterior endoderm; embryonic/larval midgut primordium; ganglia; and gut section. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 1. Orthologous to human DPH1 (diphthamide biosynthesis 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Dph1 in Genome Data Viewer
    Location:
    68D2-68D2; 3-36 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (11693879..11696963, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (11686979..11690063, complement)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR43887 Neighboring gene uncharacterized protein Neighboring gene dynein, axonemal, intermediate chain 2 Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Pseudomonas exotoxin kills Drosophila S2 cells via apoptosis. Sharma AK, et al. Toxicon, 2010 Nov. PMID 20659495, Free PMC Article
    2. Forward genetic screen in human podocytes identifies diphthamide biosynthesis genes as regulators of adhesion. Cinà DP, et al. Am J Physiol Renal Physiol, 2019 Dec 1. PMID 31566424, Free PMC Article
    3. Transcriptional coupling of distant regulatory genes in living embryos. Levo M, et al. Nature, 2022 May. PMID 35508662, Free PMC Article
    4. HIF-independent synthetic lethality between CDK4/6 inhibition and VHL loss across species. Nicholson HE, et al. Sci Signal, 2019 Oct 1. PMID 31575731, Free PMC Article
    5. Regulation of Drosophila hypoxia-inducible factor (HIF) activity in SL2 cells: identification of a hypoxia-induced variant isoform of the HIFalpha homolog gene similar. Gorr TA, et al. J Biol Chem, 2004 Aug 20. PMID 15169765

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables 2-(3-amino-3-carboxypropyl)histidine synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 2-(3-amino-3-carboxypropyl)histidine synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein histidyl modification to diphthamide IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    diphthamide biosynthesis 1
    Names
    CG11652-PA
    CG11652-PB
    CG11652-PC
    Dph1-PA
    Dph1-PB
    Dph1-PC
    diphthamide biosynthesis-like 1
    NP_001261722.1
    NP_648496.1
    NP_729735.1

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_037436.4 Reference assembly

      Range
      11693879..11696963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_140239.4 → NP_648496.1  diphthamide biosynthesis 1, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_648496.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VTM2
      Related
      FBpp0075861
      Conserved Domains (1) summary
      pfam01866
      Location:83 → 380
      Diphthamide_syn; Putative diphthamide synthesis protein

    2. NM_001274793.1 → NP_001261722.1  diphthamide biosynthesis 1, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001261722.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VTM2
      Conserved Domains (1) summary
      pfam01866
      Location:83 → 380
      Diphthamide_syn; Putative diphthamide synthesis protein

    3. NM_168471.3 → NP_729735.1  diphthamide biosynthesis 1, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_729735.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VTM2
      Related
      FBpp0075862
      Conserved Domains (1) summary
      pfam01866
      Location:83 → 380
      Diphthamide_syn; Putative diphthamide synthesis protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9VTM2 Q9VTM2

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