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    DPH7 diphthamide biosynthesis 7 [ Homo sapiens (human) ]

    Gene ID: 92715, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DPH7provided by HGNC
    Official Full Name
    diphthamide biosynthesis 7provided by HGNC
    Primary source
    HGNC:HGNC:25199
    See related
    Ensembl:ENSG00000148399 MIM:613210; AllianceGenome:HGNC:25199
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RRT2; WDR85; C9orf112
    Summary
    Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in testis (RPKM 4.1), spleen (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137554444..137578925, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149807598..149830591, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140448896..140473377, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140355491-140356424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140356425-140357357 Neighboring gene patatin like phospholipase domain containing 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140377541-140378740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140389307-140389807 Neighboring gene 9q34.3 PNPLA7 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140438353-140438854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140443963-140444464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20628 Neighboring gene uncharacterized LOC124902317 Neighboring gene mitochondrial ribosomal protein L41 Neighboring gene Sharpr-MPRA regulatory region 4489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140473657-140474628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140482491-140483009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140483010-140483527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20633 Neighboring gene uncharacterized LOC124902318 Neighboring gene zinc finger MYND-type containing 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20634

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A modified form of diphthamide causes immunotoxin resistance in a lymphoma cell line with a deletion of the WDR85 gene. Wei H, et al. J Biol Chem, 2013 Apr 26. PMID 23486472, Free PMC Article
    2. Haploid genetic screens in human cells identify host factors used by pathogens. Carette JE, et al. Science, 2009 Nov 27. PMID 19965467
    3. The inhibitor of growth protein 5 (ING5) depends on INCA1 as a co-factor for its antiproliferative effects. Zhang F, et al. PLoS One, 2011. PMID 21750715, Free PMC Article
    4. Novel Cul3 binding proteins function to remodel E3 ligase complexes. Wimuttisuk W, et al. BMC Cell Biol, 2014 Jul 10. PMID 25011449, Free PMC Article
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ90634

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables diphthine methylesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    diphthine methyltransferase
    Names
    WD repeat-containing protein 85
    NP_001333299.1
    NP_001333300.1
    NP_001333301.1
    NP_001333302.1
    NP_001333303.1
    NP_001333304.1
    NP_001333305.1
    NP_001333306.1
    NP_001333307.1
    NP_001333308.1
    NP_001333309.1
    NP_001333310.1
    NP_001333311.1
    NP_001333312.1
    NP_001333313.1
    NP_001333314.1
    NP_001333315.1
    NP_001333316.1
    NP_001333317.1
    NP_001333318.1
    NP_001333319.1
    NP_001333320.1
    NP_001333321.1
    NP_001333322.1
    NP_001333323.1
    NP_001333324.1
    NP_001333325.1
    NP_620133.1

    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.

    Genomic

    1. NG_051807.1 RefSeqGene

      Range
      5011..29492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346370.2 → NP_001333299.1  diphthine methyltransferase isoform b

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    2. NM_001346371.2 → NP_001333300.1  diphthine methyltransferase isoform c

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    3. NM_001346372.2 → NP_001333301.1  diphthine methyltransferase isoform d

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    4. NM_001346373.2 → NP_001333302.1  diphthine methyltransferase isoform e

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    5. NM_001346374.2 → NP_001333303.1  diphthine methyltransferase isoform f

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    6. NM_001346375.2 → NP_001333304.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    7. NM_001346376.2 → NP_001333305.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    8. NM_001346377.2 → NP_001333306.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    9. NM_001346378.2 → NP_001333307.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    10. NM_001346379.2 → NP_001333308.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    11. NM_001346380.2 → NP_001333309.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    12. NM_001346381.2 → NP_001333310.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    13. NM_001346382.2 → NP_001333311.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    14. NM_001346383.2 → NP_001333312.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    15. NM_001346384.2 → NP_001333313.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    16. NM_001346385.2 → NP_001333314.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    17. NM_001346386.2 → NP_001333315.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    18. NM_001346387.2 → NP_001333316.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    19. NM_001346388.2 → NP_001333317.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    20. NM_001346389.2 → NP_001333318.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    21. NM_001346390.2 → NP_001333319.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    22. NM_001346391.2 → NP_001333320.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    23. NM_001346392.2 → NP_001333321.1  diphthine methyltransferase isoform g

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502
      Conserved Domains (2) summary
      COG2319
      Location:23 → 138
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 61
      7WD40; WD40 repeat [structural motif]

    24. NM_001346393.2 → NP_001333322.1  diphthine methyltransferase isoform h

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    25. NM_001346394.2 → NP_001333323.1  diphthine methyltransferase isoform h

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    26. NM_001346395.2 → NP_001333324.1  diphthine methyltransferase isoform h

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    27. NM_001346396.2 → NP_001333325.1  diphthine methyltransferase isoform h

      Status: REVIEWED

      Source sequence(s)
      AA252248, AL365502

    28. NM_138778.5 → NP_620133.1  diphthine methyltransferase isoform a

      See identical proteins and their annotated locations for NP_620133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA252248, AK075115, AL365502, BC017335
      Consensus CDS
      CCDS7047.1
      UniProtKB/Swiss-Prot
      Q96AB7, Q9BTV6
      Related
      ENSP00000277540.2, ENST00000277540.7
      Conserved Domains (2) summary
      COG2319
      Location:64 → 314
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:91 → 135
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137554444..137578925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149807598..149830591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTV6.2 GenPept UniProtKB/Swiss-Prot:Q9BTV6

    Gene LinkOut

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