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    Dph1 diphthamide biosynthesis 1 [ Mus musculus (house mouse) ]

    Gene ID: 116905, updated on 27-Nov-2024

    Summary

    Official Symbol
    Dph1provided by MGI
    Official Full Name
    diphthamide biosynthesis 1provided by MGI
    Primary source
    MGI:MGI:2151233
    See related
    Ensembl:ENSMUSG00000078789 AllianceGenome:MGI:2151233
    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
    Ovca1; Dph2l1; 2310011M22Rik; 4930488F09Rik
    Summary
    Enables 2-(3-amino-3-carboxypropyl)histidine synthase activity. Involved in protein histidyl modification to diphthamide. Acts upstream of or within fibroblast proliferation. Predicted to be located in cell junction and nucleoplasm. Predicted to be part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; liver; and lung. Used to study Miller-Dieker lissencephaly syndrome and diphthamide deficiency syndrome 1. 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, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 36.9), ovary adult (RPKM 28.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Dph1 in Genome Data Viewer
    Location:
    11 B5; 11 45.76 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (75068469..75081309, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (75177643..75190483, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700016P03 gene Neighboring gene microRNA 212 Neighboring gene microRNA 132 Neighboring gene candidate tumor suppressor in ovarian cancer 2 Neighboring gene STARR-positive B cell enhancer ABC_E7016 Neighboring gene reticulon 4 receptor-like 1 Neighboring gene STARR-seq mESC enhancer starr_29983 Neighboring gene STARR-seq mESC enhancer starr_29985 Neighboring gene STARR-seq mESC enhancer starr_29986 Neighboring gene predicted gene, 35169 Neighboring gene predicted gene, 35117

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2-(3-amino-3-carboxypropyl)histidine synthase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    contributes_to 2-(3-amino-3-carboxypropyl)histidine synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables 4 iron, 4 sulfur cluster binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
    Names
    DPH1 homolog
    DPH2-like 1
    S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1
    diphthamide biosynthesis protein 1
    diphthamide biosynthesis protein 2 homolog-like 1
    diphtheria toxin resistance protein 1
    diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1
    mmDph1
    ovarian cancer-associated gene 1 protein homolog
    NP_652762.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_144491.2NP_652762.2  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1

      See identical proteins and their annotated locations for NP_652762.2

      Status: VALIDATED

      Source sequence(s)
      AK082812, AY078170, BB651982
      Consensus CDS
      CCDS25042.1
      UniProtKB/Swiss-Prot
      Q5NCQ5, Q80UX6, Q8R445
      Related
      ENSMUSP00000042162.5, ENSMUST00000044949.11
      Conserved Domains (1) summary
      pfam01866
      Location:76372
      Diphthamide_syn; Putative diphthamide synthesis protein

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      75068469..75081309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)