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DPH5 diphthamide biosynthesis 5 [ Homo sapiens (human) ]

Gene ID: 51611, updated on 22-May-2022

Summary

Official Symbol
DPH5provided by HGNC
Official Full Name
diphthamide biosynthesis 5provided by HGNC
Primary source
HGNC:HGNC:24270
See related
Ensembl:ENSG00000117543 MIM:611075; AllianceGenome:HGNC:24270
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
AD-018; CGI-30; NPD015; HSPC143
Summary
This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 15.2), thyroid (RPKM 9.2) and 25 other tissues See more
Orthologs
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Genomic context

See DPH5 in Genome Data Viewer
Location:
1p21.2
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100989623..101025784, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100838455..100874624, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (101455179..101491340, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5467 Neighboring gene exostosin like glycosyltransferase 2 Neighboring gene solute carrier family 30 member 7 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 Neighboring gene DPH5 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 5182

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

Phenotypes

EBI GWAS Catalog

Description
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC61450

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables diphthine synthase activity EXP
Inferred from Experiment
more info
PubMed 
enables diphthine synthase activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
diphthine methyl ester synthase
Names
DPH5 homolog
diphthamide biosynthesis methyltransferase
diphthine synthase
protein x 0011
NP_001070862.1
NP_001070863.1
NP_057042.2
XP_005270995.1
XP_011539872.1
XP_024303368.1
XP_047278469.1
XP_047278470.1
XP_047278471.1

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_001077394.2NP_001070862.1  diphthine methyl ester synthase isoform a

    See identical proteins and their annotated locations for NP_001070862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the longer isoform (a).
    Source sequence(s)
    AK125485, BI907367, BM808505, CK002046
    Consensus CDS
    CCDS41358.1
    UniProtKB/Swiss-Prot
    Q9H2P9
    UniProtKB/TrEMBL
    B3KWP1
    Related
    ENSP00000418282.1, ENST00000488176.1
    Conserved Domains (1) summary
    PTZ00175
    Location:1272
    PTZ00175; diphthine synthase; Provisional
  2. NM_001077395.2NP_001070863.1  diphthine methyl ester synthase isoform b

    See identical proteins and their annotated locations for NP_001070863.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform b) is one amino acid shorter than isoform a.
    Source sequence(s)
    AC093157, AK125485, AK225469, BM808505
    Consensus CDS
    CCDS41359.1
    UniProtKB/Swiss-Prot
    Q9H2P9
    UniProtKB/TrEMBL
    B3KWP1
    Related
    ENSP00000339630.7, ENST00000342173.11
    Conserved Domains (1) summary
    PTZ00175
    Location:1271
    PTZ00175; diphthine synthase; Provisional
  3. NM_015958.3NP_057042.2  diphthine methyl ester synthase isoform a

    See identical proteins and their annotated locations for NP_057042.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK125485, BC053857, BM808505, DA133565
    Consensus CDS
    CCDS41358.1
    UniProtKB/Swiss-Prot
    Q9H2P9
    UniProtKB/TrEMBL
    B3KWP1
    Related
    ENSP00000359127.3, ENST00000370109.8
    Conserved Domains (1) summary
    PTZ00175
    Location:1272
    PTZ00175; diphthine synthase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    100989623..101025784 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422514.1XP_047278470.1  diphthine methyl ester synthase isoform X3

  2. XM_005270938.3XP_005270995.1  diphthine methyl ester synthase isoform X2

    Conserved Domains (1) summary
    cl00304
    Location:1177
    TP_methylase; S-AdoMet dependent tetrapyrrole methylases
  3. XM_024447600.2XP_024303368.1  diphthine methyl ester synthase isoform X2

    Conserved Domains (1) summary
    cl00304
    Location:1177
    TP_methylase; S-AdoMet dependent tetrapyrrole methylases
  4. XM_047422513.1XP_047278469.1  diphthine methyl ester synthase isoform X1

  5. XM_047422515.1XP_047278471.1  diphthine methyl ester synthase isoform X5

  6. XM_011541570.4XP_011539872.1  diphthine methyl ester synthase isoform X4

    See identical proteins and their annotated locations for XP_011539872.1

    UniProtKB/TrEMBL
    B3KWP1
    Conserved Domains (1) summary
    cl00304
    Location:1159
    TP_methylase; S-AdoMet dependent tetrapyrrole methylases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    100838455..100874624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)