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DPH7 diphthamide biosynthesis 7 [ Homo sapiens (human) ]

Gene ID: 92715, updated on 2-Nov-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
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Genomic context

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See DPH7 in Genome Data Viewer
Location:
9q34.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137554444..137578925, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149807598..149830591, complement)
RS_2024_09 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 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 (19) 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_2024_08

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

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