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    Dph6 diphthamine biosynthesis 6 [ Mus musculus (house mouse) ]

    Gene ID: 66632, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Dph6provided by MGI
    Official Full Name
    diphthamine biosynthesis 6provided by MGI
    Primary source
    MGI:MGI:1913882
    See related
    Ensembl:ENSMUSG00000057147 AllianceGenome:MGI:1913882
    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
    Atpbd4; 5730421E18Rik
    Summary
    Predicted to enable diphthine-ammonia ligase activity. Predicted to be involved in protein histidyl modification to diphthamide. Orthologous to human DPH6 (diphthamine biosynthesis 6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 4.9), bladder adult (RPKM 3.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dph6 in Genome Data Viewer
    Location:
    2 E4; 2 57.74 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (114346897..114485518, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (114516416..114655046, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05409 Neighboring gene predicted gene, 31146 Neighboring gene STARR-seq mESC enhancer starr_05410 Neighboring gene predicted gene, 54144 Neighboring gene STARR-seq mESC enhancer starr_05411 Neighboring gene STARR-positive B cell enhancer ABC_E11151 Neighboring gene STARR-positive B cell enhancer ABC_E5960 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene VISTA enhancer mm1099 Neighboring gene STARR-seq mESC enhancer starr_05412 Neighboring gene predicted gene 13974

    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 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. Chemogenomic approach identified yeast YLR143W as diphthamide synthetase. Su X, et al. Proc Natl Acad Sci U S A, 2012 Dec 4. PMID 23169644, Free PMC Article
    2. A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. van der Weyden L, et al. G3 (Bethesda), 2020 Jun 1. PMID 32245826, Free PMC Article
    3. Characterization of the zinc-induced Shank3 interactome of mouse synaptosome. Lee Y, et al. Biochem Biophys Res Commun, 2017 Dec 16. PMID 29111324
    4. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    5. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables diphthine-ammonia ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables diphthine-ammonia ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables diphthine-ammonia ligase activity ISO
    Inferred from Sequence Orthology
    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
    		  

    General protein information

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    Preferred Names
    diphthine--ammonia ligase
    Names
    ATP binding domain 4
    ATP-binding domain-containing protein 4
    diphthamide synthase
    diphthamide synthetase
    protein DPH6 homolog
    NP_001343367.1
    NP_001343368.1
    NP_079951.1
    XP_006500082.1
    XP_036018356.1

    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_001356438.1 → NP_001343367.1  diphthine--ammonia ligase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK088160, AK145789, AL732404
      Consensus CDS
      CCDS89536.1
      Related
      ENSMUSP00000060730.8, ENSMUST00000055144.8
      Conserved Domains (1) summary
      cd01994
      Location:2 → 215
      Alpha_ANH_like_IV; This is a subfamily of Adenine nucleotide alpha hydrolases superfamily.Adeninosine nucleotide alpha hydrolases superfamily includes N type ATP PPases and ATP sulphurylases. It forms a apha/beta/apha fold which binds to Adenosine group. This subfamily ...

    2. NM_001356439.1 → NP_001343368.1  diphthine--ammonia ligase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon and uses an alternate splice junction compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL732404
      Consensus CDS
      CCDS89535.1
      Related
      ENSMUSP00000028640.8, ENSMUST00000028640.14
      Conserved Domains (1) summary
      cd01994
      Location:2 → 189
      Alpha_ANH_like_IV; This is a subfamily of Adenine nucleotide alpha hydrolases superfamily.Adeninosine nucleotide alpha hydrolases superfamily includes N type ATP PPases and ATP sulphurylases. It forms a apha/beta/apha fold which binds to Adenosine group. This subfamily ...

    3. NM_025675.5 → NP_079951.1  diphthine--ammonia ligase isoform 2

      See identical proteins and their annotated locations for NP_079951.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL732404
      Consensus CDS
      CCDS16567.1
      UniProtKB/Swiss-Prot
      Q3UL00, Q8R1W5, Q9CQ28
      Related
      ENSMUSP00000099601.4, ENSMUST00000102542.10
      Conserved Domains (1) summary
      cd01994
      Location:2 → 215
      Alpha_ANH_like_IV; This is a subfamily of Adenine nucleotide alpha hydrolases superfamily.Adeninosine nucleotide alpha hydrolases superfamily includes N type ATP PPases and ATP sulphurylases. It forms a apha/beta/apha fold which binds to Adenosine group. This subfamily ...

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      114346897..114485518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500019.5 → XP_006500082.1  diphthine--ammonia ligase isoform X1

      Conserved Domains (1) summary
      cl00292
      Location:46 → 148
      AANH_like; Adenine nucleotide alpha hydrolases superfamily including N type ATP PPases, ATP sulphurylases Universal Stress Response protein and electron transfer flavoprotein (ETF). The domain forms a apha/beta/apha fold which binds to Adenosine nucleotide.

    2. XM_036162463.1 → XP_036018356.1  diphthine--ammonia ligase isoform X2

      Conserved Domains (1) summary
      cl00292
      Location:46 → 149
      AANH_like; Adenine nucleotide alpha hydrolases superfamily including N type ATP PPases, ATP sulphurylases Universal Stress Response protein and electron transfer flavoprotein (ETF). The domain forms a apha/beta/apha fold which binds to Adenosine nucleotide.

    RNA

    1. XR_004940694.1 RNA Sequence

    2. XR_866334.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQ28.1 GenPept UniProtKB/Swiss-Prot:Q9CQ28

    Gene LinkOut

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

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