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DPH7 diphthamide biosynthesis 7 [ Homo sapiens (human) ]

Gene ID: 92715, updated on 21-Dec-2019

Summary

Official Symbol
DPH7provided by HGNC
Official Full Name
diphthamide biosynthesis 7provided by HGNC
Primary source
HGNC:HGNC:25199
See related
Ensembl:ENSG00000148399 MIM:613210
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

Genomic context

See DPH7 in Genome Data Viewer
Location:
9q34.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (137554444..137578925, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140449354..140473387, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene patatin like phospholipase domain containing 7 Neighboring gene 9q34.3 PNPLA7 recombination region Neighboring gene mitochondrial ribosomal protein L41 Neighboring gene Sharpr-MPRA regulatory region 4489 Neighboring gene zinc finger MYND-type containing 19 Neighboring gene arrestin domain containing 1 Neighboring gene ARRDC1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90634

Gene Ontology Provided by GOA

Function Evidence Code Pubs
diphthine methylesterase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

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)

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_001346370.2NP_001333299.1  diphthine methyltransferase isoform b

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  2. NM_001346371.2NP_001333300.1  diphthine methyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  3. NM_001346372.2NP_001333301.1  diphthine methyltransferase isoform d

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  4. NM_001346373.2NP_001333302.1  diphthine methyltransferase isoform e

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  5. NM_001346374.2NP_001333303.1  diphthine methyltransferase isoform f

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  6. NM_001346375.2NP_001333304.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  7. NM_001346376.2NP_001333305.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  8. NM_001346377.2NP_001333306.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  9. NM_001346378.2NP_001333307.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  10. NM_001346379.2NP_001333308.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  11. NM_001346380.2NP_001333309.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  12. NM_001346381.2NP_001333310.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  13. NM_001346382.2NP_001333311.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  14. NM_001346383.2NP_001333312.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  15. NM_001346384.2NP_001333313.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  16. NM_001346385.2NP_001333314.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  17. NM_001346386.2NP_001333315.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  18. NM_001346387.2NP_001333316.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  19. NM_001346388.2NP_001333317.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  20. NM_001346389.2NP_001333318.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  21. NM_001346390.2NP_001333319.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  22. NM_001346391.2NP_001333320.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  23. NM_001346392.2NP_001333321.1  diphthine methyltransferase isoform g

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
    Conserved Domains (2) summary
    COG2319
    Location:23138
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2261
    7WD40; WD40 repeat [structural motif]
  24. NM_001346393.2NP_001333322.1  diphthine methyltransferase isoform h

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  25. NM_001346394.2NP_001333323.1  diphthine methyltransferase isoform h

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  26. NM_001346395.2NP_001333324.1  diphthine methyltransferase isoform h

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  27. NM_001346396.2NP_001333325.1  diphthine methyltransferase isoform h

    Status: REVIEWED

    Source sequence(s)
    AA252248, AL365502
  28. NM_138778.5NP_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
    Q9BTV6
    Related
    ENSP00000277540.2, ENST00000277540.7
    Conserved Domains (2) summary
    COG2319
    Location:64314
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:91135
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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