U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 69740, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
Predicted to enable diphthine methyl ester synthase activity. Predicted to be involved in protein histidyl modification to diphthamide. 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, Nov 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Alleles

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

Pathways from PubChem

Go to the top of the page

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables diphthine methyl ester synthase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in methylation IEA
Inferred from Electronic Annotation
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
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

Go to the top of the page Help
Preferred Names
diphthine methyl ester synthase
Names
DPH5 homolog
diphthamide biosynthesis methyltransferase
diphthine synthase
NP_081469.2
XP_036019191.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous