Human Gene DPH1 (uc002ftt.3)
  Description: Homo sapiens diphthamide biosynthesis 1 (DPH1), mRNA.
RefSeq Summary (NM_001383): The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016].
Transcript (Including UTRs)
   Position: hg19 chr17:1,933,431-1,946,725 Size: 13,295 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr17:1,933,464-1,945,151 Size: 11,688 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:1,933,431-1,946,725)mRNA (may differ from genome)Protein (427 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: I3L1H5_HUMAN
DESCRIPTION: RecName: Full=Diphthamide biosynthesis protein 1; Flags: Fragment;
SIMILARITY: Belongs to the DPH1/DPH2 family. DPH1 subfamily.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DPH1
Diseases sorted by gene-association score: developmental delay with short stature, dysmorphic features, and sparse hair* (1281), diphtheria (12), ritscher-schinzel syndrome (10), intellectual disability (6), cranioectodermal dysplasia 1 (5), miller-dieker lissencephaly syndrome (4), sotos syndrome 1 (4), ovarian cancer, somatic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.98 RPKM in Brain - Cerebellum
Total median expression: 671.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.3033-0.191 Picture PostScript Text
3' UTR -326.95845-0.387 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002728 - DPH1/DPH2
IPR016435 - eu_DPH1/arc_DPH2

Pfam Domains:
PF01866 - Putative diphthamide synthesis protein

ModBase Predicted Comparative 3D Structure on I3L1H5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine

Cellular Component:
GO:0005654 nucleoplasm
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  S81752 - DPH2L=candidate tumor suppressor gene {ovarian cancer critical region of deletion} [human, 9 week fetal and placental tissues, mRNA, 2233 nt].
U34880 - Homo sapiens DPH2L mRNA, complete cds.
AF321876 - Homo sapiens candidate tumor suppressor (DPH2L1) mRNA, complete cds.
AK314015 - Homo sapiens cDNA, FLJ94672, highly similar to Homo sapiens DPH2-like 1 (S. cerevisiae) (DPH2L1), mRNA.
BC096086 - Homo sapiens cDNA clone IMAGE:40000793, **** WARNING: chimeric clone ****.
BC096087 - Homo sapiens cDNA clone IMAGE:40000794, **** WARNING: chimeric clone ****.
BC096088 - Homo sapiens DPH1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:116728 IMAGE:40000799), complete cds.
BC096089 - Homo sapiens cDNA clone IMAGE:40000802, **** WARNING: chimeric clone ****.
BC003099 - Homo sapiens DPH1 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3502082), partial cds.
AK297947 - Homo sapiens cDNA FLJ55582 complete cds, highly similar to Homo sapiens DPH1 homolog (DPH1), mRNA.
JD363163 - Sequence 344187 from Patent EP1572962.
JD095535 - Sequence 76559 from Patent EP1572962.
CU678376 - Synthetic construct Homo sapiens gateway clone IMAGE:100017108 5' read DPH1 mRNA.
BT019878 - Homo sapiens diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) mRNA, complete cds.
DQ891858 - Synthetic construct clone IMAGE:100004488; FLH180662.01X; RZPDo839E08134D DPH1 homolog (S. cerevisiae) (DPH1) gene, encodes complete protein.
DQ895047 - Synthetic construct Homo sapiens clone IMAGE:100009507; FLH180658.01L; RZPDo839E08133D DPH1 homolog (S. cerevisiae) (DPH1) gene, encodes complete protein.
KJ904452 - Synthetic construct Homo sapiens clone ccsbBroadEn_13846 DPH1 gene, encodes complete protein.
DQ598543 - Homo sapiens piRNA piR-36609, complete sequence.
JD022799 - Sequence 3823 from Patent EP1572962.
AK090530 - Homo sapiens cDNA FLJ33211 fis, clone ADRGL2009489, highly similar to Homo sapiens DPH1 homolog (DPH1), mRNA.
BC013205 - Homo sapiens DPH1 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4155628), with apparent retained intron.
AK098268 - Homo sapiens cDNA FLJ40949 fis, clone UTERU2009776, moderately similar to OVCA2=candidate tumor suppressor.
BC040696 - Homo sapiens candidate tumor suppressor in ovarian cancer 2, mRNA (cDNA clone MGC:49937 IMAGE:6158258), complete cds.
BC041170 - Homo sapiens candidate tumor suppressor in ovarian cancer 2, mRNA (cDNA clone MGC:48980 IMAGE:5738727), complete cds.
CU691978 - Synthetic construct Homo sapiens gateway clone IMAGE:100021058 5' read OVCA2 mRNA.
GQ129352 - Synthetic construct Homo sapiens clone HAIB:100068687; DKFZo004E0136 candidate tumor suppressor in ovarian cancer 2 protein (OVCA2) gene, partial cds.
HQ448533 - Synthetic construct Homo sapiens clone IMAGE:100071968; CCSB011272_02 candidate tumor suppressor in ovarian cancer 2 (OVCA2) gene, encodes complete protein.
KJ895394 - Synthetic construct Homo sapiens clone ccsbBroadEn_04788 OVCA2 gene, encodes complete protein.
GQ129353 - Synthetic construct Homo sapiens clone HAIB:100068590; DKFZo008E0135 candidate tumor suppressor in ovarian cancer 2 protein (OVCA2) gene, complete cds.
AF073528 - Homo sapiens ovarian cancer gene-2 protein (OVCA2) mRNA, complete cds.
AF321875 - Homo sapiens candidate tumor suppressor OVCA2 (OVCA2) mRNA, complete cds.
JD043671 - Sequence 24695 from Patent EP1572962.
JD154206 - Sequence 135230 from Patent EP1572962.
JD125181 - Sequence 106205 from Patent EP1572962.
JD497210 - Sequence 478234 from Patent EP1572962.
JD155685 - Sequence 136709 from Patent EP1572962.
JD534537 - Sequence 515561 from Patent EP1572962.
JD131357 - Sequence 112381 from Patent EP1572962.
JD348430 - Sequence 329454 from Patent EP1572962.
JD432088 - Sequence 413112 from Patent EP1572962.
JD520767 - Sequence 501791 from Patent EP1572962.
JD387997 - Sequence 369021 from Patent EP1572962.
JD367897 - Sequence 348921 from Patent EP1572962.
JD552632 - Sequence 533656 from Patent EP1572962.
JD280462 - Sequence 261486 from Patent EP1572962.
JD495355 - Sequence 476379 from Patent EP1572962.
JD495356 - Sequence 476380 from Patent EP1572962.
JD356077 - Sequence 337101 from Patent EP1572962.
JD356078 - Sequence 337102 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BC096087, I3L1H5, I3L1H5_HUMAN, NM_001383, NP_001374
UCSC ID: uc002ftt.3
RefSeq Accession: NM_001383
Protein: I3L1H5 CCDS: CCDS42228.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC096087.1
exon count: 13CDS single in 3' UTR: no RNA size: 1733
ORF size: 1284CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 2630.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.